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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
IGSF22	283284	broad.mit.edu	37	11	18730994	18730994	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18730994C>T	uc009yht.2	-	17	3128	c.2938G>A	c.(2938-2940)Gag>Aag	p.E980K	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	879										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ACCCCAGCCTCATTCACAGCC	0.577000														71			40		0	0	0.000781405	0	0
GTDC1	79712	broad.mit.edu	37	2	144765040	144765040	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:144765040C>T	uc002tvp.3	-	6	863	c.584G>A	c.(583-585)gGt>gAt	p.G195D	GTDC1_uc002tvo.3_Missense_Mutation_p.G195D|GTDC1_uc021vqf.1_Missense_Mutation_p.G195D|GTDC1_uc010fnn.3_Missense_Mutation_p.G195D|GTDC1_uc002tvs.3_Missense_Mutation_p.G163D|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.G195D|GTDC1_uc010fno.3_Missense_Mutation_p.G66D|GTDC1_uc002tvt.2_Missense_Mutation_p.G195D	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	195					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CAGAACCGCACCGCCATTTCC	0.408000														51			12		0	0	0.000219431	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606553	47606553	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47606553C>T	uc001cqv.1	+	1	348	c.297C>T	c.(295-297)ctC>ctT	p.L99L	CYP4A22_uc009vyo.3_Silent_p.L99L|CYP4A22_uc009vyp.3_Silent_p.L99L	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	99						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGTCCAGCTCTATGACCCTG	0.517000														105			8		0	0	0.000978159	0	0
TDRD9	122402	broad.mit.edu	37	14	104470649	104470649	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:104470649G>A	uc001yom.4	+	13	1588	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	TDRD9_uc001yon.4_Missense_Mutation_p.D258N	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	520	Helicase C-terminal.				DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTCCATCCCTGATCATGTTGT	0.393000														30			9		0	0	0.000978159	0	0
CRHR1	1394	broad.mit.edu	37	17	43912069	43912069	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:43912069C>T	uc010dap.3	+	13	1539	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	CRHR1_uc010wjx.2_Missense_Mutation_p.S221F|CRHR1_uc002ijp.3_Missense_Mutation_p.P250S|CRHR1_uc002ijm.3_Missense_Mutation_p.S396F|CRHR1_uc002ijn.3_Missense_Mutation_p.S356F|CRHR1_uc010dar.3_Missense_Mutation_p.S382F|CRHR1_uc010dao.3_Missense_Mutation_p.S295F|CRHR1_uc010daq.3_Missense_Mutation_p.S221F|CRHR1_uc021tyu.1_Missense_Mutation_p.S207F	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	425					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CGTGCCATGTCCATCCCCACC	0.632000														44			19		0	0	0.00229938	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629685	122629685	+	Splice_Site	SNP	A	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:122629685A>C	uc003efz.1	-	22	3601	c.3297_splice	c.e22+1	p.K1099_splice	SEMA5B_uc011bju.1_Splice_Site_p.K1005_splice|SEMA5B_uc003ega.1_Splice_Site|SEMA5B_uc003efy.1_Splice_Site_p.K77_splice	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	1099					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		gaaGGCTCCCACCTTGAATTC	0.527000														47			7		0	0	0.000958276	0	0
IREB2	3658	broad.mit.edu	37	15	78789604	78789604	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:78789604C>T	uc002bdr.2	+	20	2894	c.2732C>T	c.(2731-2733)tCt>tTt	p.S911F	IREB2_uc010unb.1_Missense_Mutation_p.S661F	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	911							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GAAACATTTTCTTTAACATTT	0.348000														39			8		0	0	0.000157383	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718375	142718375	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:142718375C>T	uc022cfm.1	-	0	550	c.550G>A	c.(550-552)Gat>Aat	p.D184N	SLITRK4_uc022cfl.1_Missense_Mutation_p.D184N|SLITRK4_uc004fbx.3_Missense_Mutation_p.D184N|SLITRK4_uc004fby.3_Missense_Mutation_p.D184N	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	184						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGTATATCCAGATGGGTC	0.418000														27			18		0	0	0.000958276	0	0
NOBOX	135935	broad.mit.edu	37	7	144097286	144097286	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:144097286C>T	uc022aoj.1	-	4	964	c.964G>A	c.(964-966)Ggc>Agc	p.G322S		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	322					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)					ACCAGTGAGCCGGCCCCCTTT	0.582000														74			18		0	0	0.00188189	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906161	906161	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:906161C>T	uc001ace.3	+	4	542	c.507C>T	c.(505-507)gcC>gcT	p.A169A	PLEKHN1_uc001acd.3_Intron|PLEKHN1_uc001acf.3_Intron	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	169	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTCCCGGGCCCCCAGAGGCA	0.672000														36			13		0	0	0.000219431	0	0
DAGLA	747	broad.mit.edu	37	11	61504722	61504722	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61504722C>T	uc001nsa.3	+	13	1556	c.1440C>T	c.(1438-1440)atC>atT	p.I480I		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	480					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGCTGCCATCCTCTCCTTCC	0.647000														129			60		0	0	0.000781405	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504608	51504608	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:51504608C>T	uc001zyz.4	-	9	1423	c.1172G>A	c.(1171-1173)gGg>gAg	p.G391E	CYP19A1_uc001zza.4_Missense_Mutation_p.G391E|CYP19A1_uc001zzb.2_Missense_Mutation_p.G391E	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	391					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AATGTTTGTCCCCTTTTTCAC	0.423000														76			15		0	0	0.000422831	0	0
TACC2	10579	broad.mit.edu	37	10	123843518	123843518	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:123843518G>T	uc001lfv.3	+	3	1863	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.L501F|TACC2_uc010qtv.2_Missense_Mutation_p.L501F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	501	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGAGCACTTGAACACGGAGC	0.602000														63			17		2.48551e-13	1.18544e-12	0.000566183	1	0
SLC13A5	284111	broad.mit.edu	37	17	6597468	6597468	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:6597468G>A	uc002gdj.3	-	7	1192	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SLC13A5_uc010clq.3_Silent_p.F325F|SLC13A5_uc002gdk.3_Silent_p.F351F|SLC13A5_uc010vtf.2_Silent_p.F368F	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	368						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AAGGCACAATGAATAGCAGGG	0.527000														33			16		0	0	0.00121646	0	0
NUDCD1	84955	broad.mit.edu	37	8	110305711	110305711	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110305711G>A	uc003ynb.4	-	3	613	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	NUDCD1_uc003yna.3_Missense_Mutation_p.H139Y|NUDCD1_uc010mcl.3_Missense_Mutation_p.H81Y|NUDCD1_uc010mcm.1_Missense_Mutation_p.H81Y	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	168										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GAGATACTGTGAATTATAATA	0.323000														65			7		0	0	0.000157383	0	0
COL3A1	1281	broad.mit.edu	37	2	189852835	189852835	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189852835G>A	uc002uqj.1	+	5	674	c.557G>A	c.(556-558)gGt>gAt	p.G186D		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	186	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCCCCTGGTACATCTGGT	0.388000														34			18		0	0	0.00188189	0	0
OR5H14	403273	broad.mit.edu	37	3	97868593	97868593	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:97868593C>T	uc003dsg.1	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGCATATGATCGCTATGTAGC	0.403000														101			10		0	0	0.000442599	0	0
SYN2	6854	broad.mit.edu	37	3	12232083	12232084	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:12232083_12232084CC>TT	uc003bwm.3	+	15	1859_1860	c.1695_1696CC>TT	c.(1693-1698)atccgg>atTTgg	p.R566W	SYN2_uc003bwn.3_Missense_Mutation_p.R244W	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	570					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CAGAGACCATCCGGAGCTTGAG	0.525000														237			58		0	0	6.4e-05	0	0
SULF1	23213	broad.mit.edu	37	8	70498635	70498635	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:70498635C>T	uc003xyg.2	+	5	1017	c.456C>T	c.(454-456)atC>atT	p.I152I	SULF1_uc010lza.1_Silent_p.I152I|SULF1_uc003xyd.2_Silent_p.I152I|SULF1_uc003xye.2_Silent_p.I152I|SULF1_uc003xyf.2_Silent_p.I152I	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	152					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGCTACATCCCCCCTGGGT	0.348000														53			17		0	0	0.00152264	0	0
PRKAA2	5563	broad.mit.edu	37	1	57159464	57159464	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:57159464G>A	uc001cyk.4	+	4	573	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	168	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTCAGATGGTGAATTTCTGAG	0.318000														172			77		0	0	0.000781405	0	0
TSTD2	158427	broad.mit.edu	37	9	100380096	100380097	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:100380096_100380097GG>AA	uc004axn.3	-	3	1033_1034	c.545_546CC>TT	c.(544-546)ccc>cTT	p.P182L	TSTD2_uc004axo.3_5'UTR|TSTD2_uc004axp.1_5'UTR	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	182								p.P182P(2)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGATCCATTGGGGATCCTCCAG	0.500000														30			20		0	0	6.4e-05	0	0
abParts	0	broad.mit.edu	37	14	106733388	106733388	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106733388G>A	uc021ser.1	-	876		c.21158C>T								Parts of antibodies, mostly variable regions.																		GACCTTCACTGAGGCCCCAGG	0.577000														113			16		0	0	0.000422831	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071169	102071169	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:102071169G>A	uc001tii.3	+	25	3225	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	MYBPC1_uc001tig.3_Missense_Mutation_p.D1036N|MYBPC1_uc010svr.2_Missense_Mutation_p.D1011N|MYBPC1_uc010svs.2_Missense_Mutation_p.D1029N|MYBPC1_uc001tij.3_Missense_Mutation_p.D1011N|MYBPC1_uc010svt.2_Missense_Mutation_p.D999N|MYBPC1_uc010svu.2_Missense_Mutation_p.D992N|MYBPC1_uc001tik.3_Missense_Mutation_p.D985N|MYBPC1_uc001tih.3_Missense_Mutation_p.D1036N|MYBPC1_uc010svq.2_Missense_Mutation_p.D998N|MYBPC1_uc001til.3_Missense_Mutation_p.D54N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	1029					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GATCGCCAGGGATGGTGAGTT	0.448000														19			14		0	0	0.000308642	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500143	220500143	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220500143C>T	uc002vmo.4	+	12	2187	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	SLC4A3_uc002vmp.4_Missense_Mutation_p.L633F|SLC4A3_uc010fwm.3_Missense_Mutation_p.L183F|SLC4A3_uc010fwn.1_Missense_Mutation_p.L142F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	633					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGAGAGCTGCTTAGGAAGCG	0.632000														36			12		0	0	0.000219431	0	0
MS4A6A	64231	broad.mit.edu	37	11	59942994	59942994	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:59942994G>A	uc010rla.2	-	5	987	c.514C>T	c.(514-516)Cct>Tct	p.P172S	MS4A6A_uc001noq.3_Missense_Mutation_p.P144S|MS4A6A_uc009ymv.3_Missense_Mutation_p.P144S|MS4A6A_uc001not.3_Missense_Mutation_p.P144S|MS4A6A_uc010rlb.2_Missense_Mutation_p.P99S	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	144						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGAGGCAGGATTTAAGGTG	0.428000														37			12		0	0	0.00136819	0	0
SPTB	6710	broad.mit.edu	37	14	65263392	65263392	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:65263392C>T	uc001xht.3	-	9	1275	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	SPTB_uc001xhr.3_Silent_p.L408L|SPTB_uc001xhs.3_Silent_p.L408L|SPTB_uc001xhu.3_Silent_p.L408L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	408					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTCAGGGCCAGCTCCCGCC	0.572000														44			8		0	0	0.000157383	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160734882	160734882	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:160734882C>T	uc002ubb.4	-	10	1801	c.1727G>A	c.(1726-1728)gGa>gAa	p.G576E	LY75-CD302_uc010fos.3_Missense_Mutation_p.G576E|LY75-CD302_uc002ubc.4_Missense_Mutation_p.G576E|LY75-CD302_uc010fot.2_Missense_Mutation_p.G576E	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	576	C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CCGCCTTCTTCCACCAACAGT	0.408000														58			12		0	0	0.00185496	0	0
LY96	23643	broad.mit.edu	37	8	74941306	74941306	+	Splice_Site	SNP	A	T	T	rs10282832	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:74941306A>T	uc003yad.3	+	5	615	c.501_splice	c.e5+1		LY96_uc022awb.1_Splice_Site	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.						I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TTGAGTATTTAAAAAAAAATT	0.343000														20			5		0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9074867	9074867	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9074867G>A	uc002mkp.3	-	2	12783	c.12579C>T	c.(12577-12579)ttC>ttT	p.F4193F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4195	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCAGACAAGAAAACTGAGG	0.507000														40			12		0	0	0.000422831	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578690	85578690	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:85578690G>A	uc003kiq.2	+	0	429	c.167G>A	c.(166-168)cGa>cAa	p.R56Q						Homo sapiens neuroblastoma breakpoint family, member 22, pseudogene (NBPF22P), non-coding RNA.																		CAGCAGTTCCGAGACCTCAAA	0.468000														13			6		0	0	0.00116845	0	0
MUC17	140453	broad.mit.edu	37	7	100683264	100683264	+	Missense_Mutation	SNP	G	A	A	rs149735729	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100683264G>A	uc003uxp.1	+	2	8620	c.8567G>A	c.(8566-8568)gGt>gAt	p.G2856D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2856	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGCTGAAGGTATCGTCGTG	0.507000														164			76		0	0	0.000781405	0	0
HCLS1	3059	broad.mit.edu	37	3	121361820	121361820	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121361820G>A	uc003eeh.4	-	5	533	c.408C>T	c.(406-408)gtC>gtT	p.V136V	HCLS1_uc011bjj.2_Silent_p.V136V|HCLS1_uc011bjk.1_Intron	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	136					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AATCAAAGCCGACTGCTGACT	0.507000														119			39		0	0	0.000509022	0	0
LIPT1	51601	broad.mit.edu	37	2	99778604	99778604	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:99778604A>G	uc002szp.4	+	2	345	c.307A>G	c.(307-309)Att>Gtt	p.I103V	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.I62V|LIPT1_uc002szn.4_Missense_Mutation_p.I62V|LIPT1_uc002szo.4_Missense_Mutation_p.I62V|LIPT1_uc002szq.4_Missense_Mutation_p.I62V|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.I62V|LIPT1_uc021vlo.1_Missense_Mutation_p.I62V|LIPT1_uc021vlp.1_Missense_Mutation_p.I62V	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	62					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AGGCAAACCAATTCTATTCTT	0.373000														116			36		0	0	0.00195071	0	0
PROKR1	10887	broad.mit.edu	37	2	68882048	68882048	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:68882048G>A	uc010yqj.2	+	1	682	c.522G>A	c.(520-522)atG>atA	p.M174I	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	174						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACCACGGATGAAGTGCCAAA	0.532000														55			24		0	0	0.00047179	0	0
KCNS3	3790	broad.mit.edu	37	2	18112486	18112486	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:18112486C>T	uc021veh.1	+	0	211	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	KCNS3_uc002rcv.3_Missense_Mutation_p.R71W|KCNS3_uc002rcw.3_Missense_Mutation_p.R71W	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	71					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACTTTGATCGGAATCCCTC	0.468000														84			11		0	0	0.000673444	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47611798	47611798	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:47611798C>T	uc021qit.1	-	0	565	c.565G>A	c.(565-567)Ggc>Agc	p.G189S	C1QTNF4_uc001ngc.2_Missense_Mutation_p.G189S	NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 4 (C1QTNF4), mRNA.	189	C1q 2.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCGTCCGAGCCCACCAAGCTG	0.766000														8			5		0	0	0.000602214	0	0
CFHR2	3080	broad.mit.edu	37	1	196918726	196918726	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:196918726G>A	uc001gtq.1	+	1	277	c.200G>A	c.(199-201)tGg>tAg	p.W67*	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	67	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAATCCTTTTGGACTCGCATA	0.383000														25			11		0	0	0.000978159	0	0
UGGT1	56886	broad.mit.edu	37	2	128947294	128947294	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:128947294C>T	uc002tps.3	+	40	4824	c.4646C>T	c.(4645-4647)cCt>cTt	p.P1549L	UGGT1_uc002tpr.3_Missense_Mutation_p.P1525L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1549	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCTTAGGTCCTCAGAAACGT	0.358000														27			9		0	0	0.000978159	0	0
KXD1	79036	broad.mit.edu	37	19	18675733	18675733	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18675733C>T	uc021uqq.1	+	3	461	c.156C>T	c.(154-156)tcC>tcT	p.S52S	KXD1_uc021uqr.1_Silent_p.S52S|KXD1_uc002njo.3_Silent_p.S52S|KXD1_uc002njq.3_Silent_p.S52S	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	52							protein binding										ACAACCTGTCCAGTGCCCGCC	0.572000														159			82		0	0	0.000781405	0	0
KCNK18	338567	broad.mit.edu	37	10	118969466	118969466	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:118969466G>A	uc010qsr.2	+	2	811	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	271						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CAACCTGGATGAAGTTGGACA	0.532000														56			19		0	0	0.00229938	0	0
DMBT1	1755	broad.mit.edu	37	10	124392396	124392396	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124392396C>T	uc001lgk.1	+	47	6106	c.6000C>T	c.(5998-6000)acC>acT	p.T2000T	DMBT1_uc001lgl.1_Silent_p.T1990T|DMBT1_uc001lgm.1_Silent_p.T1372T|DMBT1_uc021qaf.1_Silent_p.T2000T|DMBT1_uc021qag.1_Silent_p.T1990T|DMBT1_uc021qah.1_Silent_p.T1372T|DMBT1_uc009xzz.1_Silent_p.T2000T|DMBT1_uc010qtx.1_Silent_p.T720T|DMBT1_uc009yab.1_Silent_p.T703T|DMBT1_uc009yac.1_Silent_p.T294T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2000					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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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)				TCAACATCACCCGTCCAAACA	0.507000														16			4		0	0	0.000602214	0	0
GLRA3	8001	broad.mit.edu	37	4	175580240	175580240	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:175580240C>G	uc003ity.1	-	7	1539	c.1036G>C	c.(1036-1038)Gaa>Caa	p.E346Q	GLRA3_uc003itz.1_Missense_Mutation_p.E346Q	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	346					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CTCAGAAGTTCTTTGTGTTGT	0.363000														66			6		0	0	0.00116845	0	0
HTR2C	3358	broad.mit.edu	37	X	113965940	113965940	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:113965940C>T	uc004epu.1	+	3	1001	c.273C>T	c.(271-273)ttC>ttT	p.F91F	HTR2C_uc010nqc.1_Silent_p.F91F|HTR2C_uc004epv.1_Silent_p.F91F	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	91					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.F91F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCAATTACTTCTTAATGTCCC	0.398000														42			17		0	0	0.000566183	0	0
MSX1	4487	broad.mit.edu	37	4	4864760	4864760	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:4864760G>A	uc003gif.3	+	1	1037	c.802G>A	c.(802-804)Ggt>Agt	p.G268S		NM_002448	NP_002439	P28360	MSX1_HUMAN	Homo sapiens msh homeobox 1 (MSX1), mRNA.	262					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCGCGGCGGGTGCCTCGCT	0.706000														23			11		0	0	0.000673444	0	0
KCNT1	57582	broad.mit.edu	37	9	138649043	138649043	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:138649043G>A	uc011mdq.2	+	7	716	c.642G>A	c.(640-642)ctG>ctA	p.L214L	KCNT1_uc011mdr.2_Silent_p.L41L|KCNT1_uc010nbf.3_Silent_p.L166L|KCNT1_uc004cgo.1_5'UTR	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	214						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTCGTCCTGGAGATGATCA	0.662000														59			44		0	0	0.000781405	0	0
TMEM131	23505	broad.mit.edu	37	2	98375372	98375372	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:98375372G>A	uc002syh.4	-	39	5580	c.5351C>T	c.(5350-5352)cCg>cTg	p.P1784L	TMEM131_uc002syg.3_Missense_Mutation_p.P164L	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1784	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGTGTGGGTCGGGGAGCCGGA	0.612000														10			4		0	0	0.000602214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793565	140793565	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140793565G>A	uc003lkl.2	+	0	823	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.E275K	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	271	Cadherin 3.		G -> S (in dbSNP:rs2233603).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E275K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAGGGACGAAGGTGCCAA	0.463000														28			7		0	0	0.000157383	0	0
COL14A1	7373	broad.mit.edu	37	8	121174798	121174798	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:121174798C>T	uc003yox.3	+	3	604	c.339C>T	c.(337-339)ggC>ggT	p.G113G		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	113	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCTCAAGGCCAATTCAGAA	0.383000														37			7		0	0	0.00198382	0	0
PTPRE	5791	broad.mit.edu	37	10	129854412	129854412	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:129854412G>A	uc009yat.3	+	7	896	c.479G>A	c.(478-480)gGa>gAa	p.G160E	PTPRE_uc001lkb.3_Missense_Mutation_p.G149E|PTPRE_uc010qup.1_Intron|PTPRE_uc009yau.2_Missense_Mutation_p.G149E|PTPRE_uc001lkc.1_Non-coding_Transcript|PTPRE_uc001lkd.3_Missense_Mutation_p.G91E|PTPRE_uc010quq.1_Missense_Mutation_p.G50E	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	149	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CACATACAAGGAACTTTTGAA	0.368000														181			34		0	0	0.000509022	0	0
GABRP	2568	broad.mit.edu	37	5	170232728	170232728	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:170232728G>A	uc003mau.3	+	6	748	c.550G>A	c.(550-552)Gat>Aat	p.D184N	GABRP_uc011dev.2_Missense_Mutation_p.D184N	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	184						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGGCTATGATGGAAATGA	0.502000														27			5		0	0	0.000602214	0	0
RFX6	222546	broad.mit.edu	37	6	117232120	117232120	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:117232120C>T	uc003pxm.3	+	6	758	c.695C>T	c.(694-696)tCg>tTg	p.S232L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	232					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGTAAATATTCGCTTAGCTCA	0.343000														59			21		0	0	0.00047179	0	0
PTPRG	5793	broad.mit.edu	37	3	62204658	62204658	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:62204658G>A	uc003dlb.3	+	13	3007	c.2288_splice	c.e13+1	p.R763_splice	PTPRG_uc003dlc.3_Splice_Site_p.R763_splice|PTPRG_uc011bfi.2_Splice_Site_p.R38_splice	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	763					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TTTACTGGAGGTAAGCCAGGC	0.562000														101			38		0	0	0.000589545	0	0
CAMKV	79012	broad.mit.edu	37	3	49898881	49898881	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49898881C>T	uc003cxt.1	-	4	625	c.432G>A	c.(430-432)agG>agA	p.R144R	CAMKV_uc011bcy.1_Silent_p.R69R|CAMKV_uc003cxv.1_Silent_p.R144R|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.R144R|CAMKV_uc011bcz.1_Silent_p.R107R|CAMKV_uc011bda.1_Splice_Site_p.L101_splice|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	144	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTTGAGATTCCTGTGCACGA	0.607000														47			23		0	0	0.000878237	0	0
FLNC	2318	broad.mit.edu	37	7	128484164	128484164	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:128484164C>T	uc003vnz.4	+	19	3245	c.3036C>T	c.(3034-3036)ccC>ccT	p.P1012P	FLNC_uc003voa.4_Silent_p.P1012P	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1012					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCCATCCCCTGCAAGCTGG	0.642000														42			4		0	0	0.000602214	0	0
KCNV1	27012	broad.mit.edu	37	8	110980428	110980428	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110980428G>A	uc003ynr.4	-	2	2196	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	KCNV1_uc010mcw.3_Silent_p.I464I	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	464						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGTTAACACTGATATATGAGT	0.463000														38			11		0	0	0.000978159	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835290	12835290	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12835290C>T	uc001aui.3	+	0	307	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	94										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAAGGTTCGCCCCAGGTG	0.592000														60			23		0	0	0.000720815	0	0
DSG4	147409	broad.mit.edu	37	18	28991347	28991347	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28991347G>A	uc002kwr.2	+	13	2483	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E	DSG4_uc002kwq.2_Missense_Mutation_p.G764E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	764					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCTACCATGGGAACCCTGCGG	0.582000														40			5		0	0	0.000602214	0	0
TPH1	7166	broad.mit.edu	37	11	18062263	18062263	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18062263C>T	uc001mnp.2	-	0	73	c.47G>A	c.(46-48)gGa>gAa	p.G16E	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	16					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACTTGCTCTTCCCCTTTCTAA	0.343000														47			10		0	0	0.000673444	0	0
ENTPD1	953	broad.mit.edu	37	10	97607227	97607227	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:97607227G>A	uc010qoj.2	+	6	937	c.874G>A	c.(874-876)Gac>Aac	p.D292N	ENTPD1_uc001kli.4_Missense_Mutation_p.D287N|LOC728558_uc001klg.2_Non-coding_Transcript|ENTPD1_uc010qok.2_Missense_Mutation_p.D172N|ENTPD1_uc010qol.2_Missense_Mutation_p.D172N|ENTPD1_uc001klh.4_Missense_Mutation_p.D280N|ENTPD1_uc010qom.2_Intron|ENTPD1_uc010qon.2_Missense_Mutation_p.D142N|ENTPD1_uc009xva.3_Missense_Mutation_p.D142N	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	280					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AATTCTCAGGGACCCATGCTT	0.408000														38			11		0	0	0.000978159	0	0
CREB3L3	84699	broad.mit.edu	37	19	4164509	4164509	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4164509C>T	uc002lzl.3	+	4	702	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	CREB3L3_uc002lzm.3_Missense_Mutation_p.H186Y|CREB3L3_uc010xib.2_Missense_Mutation_p.H185Y|CREB3L3_uc010xic.2_Missense_Mutation_p.H187Y	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	196					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAACAGCATCACCTGGGGGC	0.552000														146			48		0	0	0.000781405	0	0
KANK4	163782	broad.mit.edu	37	1	62732423	62732423	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:62732423G>A	uc001dah.4	-	5	2677	c.2300C>T	c.(2299-2301)aCc>aTc	p.T767I	KANK4_uc001dai.4_Missense_Mutation_p.T139I|KANK4_uc001dag.4_Missense_Mutation_p.T123I	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	767										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTCTGTGGTGGTCCCAGTTTC	0.403000														150			50		0	0	0.000781405	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701811	56701811	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56701811C>T	uc010ygh.2	-	3	873	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCTCAGATTCAGAGCATCTC	0.517000														97			47		0	0	0.000781405	0	0
MYOZ2	51778	broad.mit.edu	37	4	120085440	120085440	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:120085440C>T	uc003icp.4	+	4	664	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	151							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTATCAATCTCCCTGGGAACA	0.413000														27			6		0	0	0.000157383	0	0
OR5H14	403273	broad.mit.edu	37	3	97868484	97868484	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:97868484C>T	uc003dsg.1	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGATCAACTTCTTAGCTAAGA	0.393000														91			52		0	0	0.000781405	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918706	112918706	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:112918706C>T	uc004bej.4	+	8	3295	c.3103C>T	c.(3103-3105)Ctg>Ttg	p.L1035L	PALM2-AKAP2_uc004bek.4_Silent_p.L1035L|PALM2-AKAP2_uc011lwi.2_Silent_p.L893L|PALM2-AKAP2_uc004bem.3_Silent_p.L893L|PALM2-AKAP2_uc011lwj.2_Silent_p.L804L|PALM2-AKAP2_uc004ben.3_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	Homo sapiens PALM2-AKAP2 readthrough (PALM2-AKAP2), transcript variant 1, mRNA.	804							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCCCAAGAATCTGATGCAGAC	0.512000														37			19		0	0	0.00152264	0	0
RRBP1	6238	broad.mit.edu	37	20	17596138	17596138	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:17596138C>T	uc002wpw.1	-	22	2966	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	RRBP1_uc010zrp.1_Missense_Mutation_p.E70K|RRBP1_uc002wpt.1_Missense_Mutation_p.E267K|RRBP1_uc002wpu.3_Missense_Mutation_p.E671K|RRBP1_uc010gcl.1_Missense_Mutation_p.E671K|RRBP1_uc002wpv.1_Missense_Mutation_p.E897K	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	1330					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CGGAGCTTCTCCAATTCTTCT	0.602000														32			10		0	0	0.00185496	0	0
MACF1	23499	broad.mit.edu	37	1	39905145	39905145	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:39905145C>T	uc021olw.1	+	36	13749	c.13749C>T	c.(13747-13749)atC>atT	p.I4583I	MACF1_uc021ols.1_Silent_p.I4078I|MACF1_uc021olt.1_Silent_p.I4081I	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6148					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCTTCCATCATCAAACAAC	0.438000														117			32		0	0	0.00058488	0	0
OR8D2	283160	broad.mit.edu	37	11	124189289	124189289	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:124189289C>T	uc010sah.2	-	0	805	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTCTCTTTTTCCATAGTAGTG	0.428000														64			28		0	0	0.00209593	0	0
STARD13	90627	broad.mit.edu	37	13	33704280	33704280	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:33704280C>T	uc001uuw.3	-	4	660	c.534G>A	c.(532-534)agG>agA	p.R178R	STARD13_uc001uuu.3_Silent_p.R170R|STARD13_uc001uuv.3_Silent_p.R60R|STARD13_uc001uux.3_Silent_p.R143R|STARD13_uc010abh.1_Silent_p.R163R|STARD13_uc021rhz.1_Silent_p.R170R|STARD13_uc021ria.1_Silent_p.R60R	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	178					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGGTCGTGTTCCTCATCCCCG	0.607000														19			9		0	0	0.000442599	0	0
SLC40A1	30061	broad.mit.edu	37	2	190439994	190439994	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:190439994C>T	uc002uqp.4	-	2	515	c.164G>A	c.(163-165)gGa>gAa	p.G55E	SLC40A1_uc002uqq.2_Missense_Mutation_p.G55E	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	55					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAGGCTGTTTCCATAGAGCTC	0.478000														55			20		0	0	0.00188189	0	0
KLK7	5650	broad.mit.edu	37	19	51480807	51480807	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:51480807C>T	uc002puo.3	-	5	849	c.747G>A	c.(745-747)atG>atA	p.M249I	KLK7_uc002pup.3_Missense_Mutation_p.M249I|KLK7_uc021uyj.1_Missense_Mutation_p.M242I|KLK7_uc010eok.3_Missense_Mutation_p.M177I	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	249	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GATGCTTTTTCATGGTGTCAT	0.473000														61			23		0	0	0.000720815	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343208	69343208	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:69343208G>A	uc003hdz.4	+	7	893	c.829G>A	c.(829-831)Gat>Aat	p.D277N		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	277	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACATGACTATGATATTTCTCT	0.413000														138			32		0	0	0.000814825	0	0
BDNF	627	broad.mit.edu	37	11	27680049	27680049	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:27680049C>T	uc001mrv.3	-	1	421	c.63G>A	c.(61-63)atG>atA	p.M21I	BDNF-AS_uc009yip.3_Non-coding_Transcript|BDNF-AS_uc001mrn.3_Intron|BDNF-AS_uc001mro.3_Intron|BDNF-AS_uc001mrm.3_Intron|BDNF-AS_uc009yiq.3_Non-coding_Transcript|BDNF-AS_uc001mrp.3_Intron|BDNF-AS_uc009yij.3_Non-coding_Transcript|BDNF-AS_uc009yik.3_Intron|BDNF-AS_uc009yil.3_Non-coding_Transcript|BDNF-AS_uc009yin.3_Intron|BDNF-AS_uc009yio.3_Non-coding_Transcript|BDNF-AS_uc009yim.3_Non-coding_Transcript|BDNF-AS_uc009yir.3_Non-coding_Transcript|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Non-coding_Transcript|BDNF-AS_uc009yix.3_Intron|BDNF-AS_uc009yiy.3_Non-coding_Transcript|BDNF-AS_uc001mrq.4_Intron|BDNF-AS_uc009yiw.3_Non-coding_Transcript|BDNF-AS_uc009yiz.3_Non-coding_Transcript|BDNF-AS_uc001mrr.4_Intron|BDNF-AS_uc009yit.3_Intron|BDNF-AS_uc009yiv.3_Intron|BDNF-AS_uc009yja.3_Intron|BDNF-AS_uc009yjb.3_Non-coding_Transcript|BDNF_uc021qff.1_Missense_Mutation_p.M21I|BDNF_uc010rdu.2_Missense_Mutation_p.M21I|BDNF_uc001mrt.3_Missense_Mutation_p.M36I|BDNF_uc010rdw.2_Missense_Mutation_p.M21I|BDNF_uc009yjd.3_Missense_Mutation_p.M21I|BDNF_uc001mru.3_Missense_Mutation_p.M21I|BDNF_uc010rdx.2_Missense_Mutation_p.M21I|BDNF_uc009yjf.3_Missense_Mutation_p.M50I|BDNF_uc010rdy.2_Missense_Mutation_p.M21I|BDNF_uc009yjg.3_Missense_Mutation_p.M21I|BDNF_uc009yje.3_Missense_Mutation_p.M103I|BDNF_uc001mrw.4_Missense_Mutation_p.M21I|BDNF_uc001mry.4_Missense_Mutation_p.M21I|BDNF_uc001mrz.4_Missense_Mutation_p.M21I|BDNF_uc001mrx.3_Missense_Mutation_p.M21I|BDNF_uc001msa.3_Missense_Mutation_p.M29I	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	21						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TTGCTTCTTTCATGGGGGCAG	0.522000														137			26		0	0	0.00127121	0	0
ZNF423	23090	broad.mit.edu	37	16	49670603	49670603	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:49670603G>A	uc002efs.3	-	4	2758	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	ZNF423_uc010vgn.2_Silent_p.I703I	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	820					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTCCAGCAGGATGATGGCGT	0.572000														15			16		0	0	0.00074312	0	0
DOCK7	85440	broad.mit.edu	37	1	63044523	63044524	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:63044523_63044524AG>CA	uc001daq.3	-	16	2019_2020	c.1985_1986CT>TG	c.(1984-1986)cct>cTG	p.P662L	DOCK7_uc001dan.3_Missense_Mutation_p.P554L|DOCK7_uc001dao.3_Missense_Mutation_p.P554L|DOCK7_uc001dap.3_Missense_Mutation_p.P662L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	662	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTGTTTCAAGAGGAGTATTTTG	0.307000														164			33		0	0	6.4e-05	0	0
DHX34	9704	broad.mit.edu	37	19	47861215	47861215	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:47861215C>T	uc010xyn.2	+	3	1459	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	DHX34_uc010elc.1_Intron	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	370	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGTCCATTGACCACAAGTACC	0.652000														25			17		0	0	0.00152264	0	0
CSMD2	114784	broad.mit.edu	37	1	33990616	33990616	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:33990616G>A	uc001bxm.1	-	65	10439	c.10262C>T	c.(10261-10263)tCc>tTc	p.S3421F	CSMD2_uc001bxn.1_Missense_Mutation_p.S3277F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3277						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTCCACAGGGAATTCTTGGC	0.502000														149			70		0	0	0.000781405	0	0
FBXO18	84893	broad.mit.edu	37	10	5948548	5948548	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:5948548C>T	uc001iit.3	+	3	963	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	FBXO18_uc001iir.3_Silent_p.L162L|FBXO18_uc001iis.3_Silent_p.L236L|FBXO18_uc009xig.3_Silent_p.L162L	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	236					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTATTGGAACCTGAGCTTGGT	0.557000														78			23		0	0	0.000720815	0	0
FASN	2194	broad.mit.edu	37	17	80046119	80046119	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:80046119G>A	uc002kdu.3	-	16	2775	c.2658C>T	c.(2656-2658)ttC>ttT	p.F886F	FASN_uc002kdw.1_Silent_p.F102F	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	886					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAGTGGCGGGGAAGAGGACGC	0.672000														41			12		0	0	0.000308642	0	0
OR4K14	122740	broad.mit.edu	37	14	20483307	20483307	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20483307C>T	uc010tky.2	-	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16R(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGCAGAGTCCATGCAACACA	0.373000														21			15		0	0	0.00074312	0	0
EPHA3	2042	broad.mit.edu	37	3	89259013	89259013	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:89259013G>A	uc003dqy.3	+	2	382	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	EPHA3_uc003dqx.1_Missense_Mutation_p.E53K|EPHA3_uc021xbf.1_Missense_Mutation_p.E53K	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	53						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCTTCAGTGGGAAGAGATCAG	0.403000										TSP Lung(6;0.00050)				28			6		0	0	0.000157383	0	0
OR2T27	403239	broad.mit.edu	37	1	248814116	248814116	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248814116G>A	uc010pzo.2	-	0	70	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P24S(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGCCAGGGGAAACGGGCG	0.493000														41			5		0	0	0.00198382	0	0
SLC38A4	55089	broad.mit.edu	37	12	47182344	47182344	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:47182344C>T	uc001rpi.2	-	3	576	c.177G>A	c.(175-177)ggG>ggA	p.G59G	SLC38A4_uc001rpj.2_Silent_p.G59G|SLC38A4_uc009zkl.2_Silent_p.G59G	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	59					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GCTTCTTTTTCCCCAAAAATC	0.393000														48			15		0	0	0.000566183	0	0
SCN3A	6328	broad.mit.edu	37	2	165947816	165947816	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:165947816G>A	uc002ucx.3	-	27	5339	c.4847C>T	c.(4846-4848)tCc>tTc	p.S1616F	SCN3A_uc010zcy.2_Missense_Mutation_p.S99F|SCN3A_uc002ucy.3_Missense_Mutation_p.S1567F|SCN3A_uc002ucz.3_Missense_Mutation_p.S1567F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1616						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)	CAAGGTAGGGGACACAAAATA	0.433000														56			24		0	0	0.000720815	0	0
PCLO	27445	broad.mit.edu	37	7	82581953	82581953	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82581953T>C	uc003uhx.2	-	4	8605	c.8316A>G	c.(8314-8316)caA>caG	p.Q2772Q	PCLO_uc003uhv.2_Silent_p.Q2772Q|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2703					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATAGAGGGTTGGACAGCAC	0.388000														59			13		0	0	0.000219431	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951492	235951492	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:235951492C>T	uc002vvp.3	+	3	2472	c.2079C>T	c.(2077-2079)ctC>ctT	p.L693L	SH3BP4_uc010fym.3_Silent_p.L693L|SH3BP4_uc002vvq.3_Silent_p.L693L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	693					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGGTCAGGCTCCGGGGCCAGC	0.642000														37			17		0	0	0.00074312	0	0
SCYL3	57147	broad.mit.edu	37	1	169847945	169847945	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:169847945G>A	uc001ggs.2	-	2	379	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SCYL3_uc001ggt.2_Missense_Mutation_p.R61C	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	61	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.R61C(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGGGTGACGAAGTGTCTTC	0.408000														109			16		0	0	0.000958276	0	0
C6orf10	10665	broad.mit.edu	37	6	32261273	32261273	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32261273C>T	uc021yvt.1	-	22	1350	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	C6orf10_uc011dpx.2_Missense_Mutation_p.G384R|C6orf10_uc021yvs.1_Missense_Mutation_p.G310R|C6orf10_uc011dpz.2_Missense_Mutation_p.G391R|C6orf10_uc021yvu.1_Missense_Mutation_p.G391R|C6orf10_uc021yvv.1_Missense_Mutation_p.G377R	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	393						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GCTTCCTGTCCCTTTGAGACA	0.488000														69			40		0	0	0.00128727	0	0
ZNF454	285676	broad.mit.edu	37	5	178392201	178392201	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:178392201C>T	uc003mjo.2	+	4	1097	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H266Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H266Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGAAAATTCATACTGGAGA	0.418000														97			18		0	0	0.00121646	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337048	13337048	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:13337048C>T	uc010ned.3	-	0	1471	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	336					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.A336A(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCGACAGCGGCCTGTACTGTG	0.398000														73			38		0	0	0.00222228	0	0
RORA	6095	broad.mit.edu	37	15	60970872	60970872	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:60970872C>T	uc002agx.3	-	1	265	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_134261	NP_599023	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 1, mRNA.	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGTCTTCTTCGTTACTGAGA	0.413000														37			6		0	0	0.00116845	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047310	46047310	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:46047310C>T	uc002zfp.4	+	0	271	c.222C>T	c.(220-222)tcC>tcT	p.S74S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	74	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCACCAGCTCCTGCACGCCCT	0.682000														99			26		0	0	0.00209593	0	0
MPG	4350	broad.mit.edu	37	16	135716	135717	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:135716_135717CC>TT	uc002cfn.3	+	4	1155_1156	c.837_838CC>TT	c.(835-840)gtccgg>gtTTgg	p.R280W	MPG_uc002cfm.3_Missense_Mutation_p.R263W|MPG_uc002cfo.3_Missense_Mutation_p.R275W|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.2_Intron	NM_002434	NP_001015054	P29372	3MG_HUMAN	Homo sapiens N-methylpurine-DNA glycosylase (MPG), transcript variant 1, mRNA.	280					DNA dealkylation involved in DNA repair|depurination	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCTTCTATGTCCGGGGCAGCCC	0.624000								Base excision repair (BER), DNA glycosylases						23			15		0	0	6.4e-05	0	0
DSC1	1823	broad.mit.edu	37	18	28739444	28739444	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28739444G>A	uc002kwn.3	-	1	374	c.112C>T	c.(112-114)Cct>Tct	p.P38S	DSC1_uc002kwm.3_Missense_Mutation_p.P38S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	38					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGATGAGAAGGAACTCGAAGA	0.338000														106			8		0	0	0.000274275	0	0
NRK	203447	broad.mit.edu	37	X	105179275	105179275	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:105179275G>A	uc004emd.3	+	20	3916	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K	NRK_uc010npc.1_Missense_Mutation_p.E873K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1205							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCACATGTATGAAAAGGAGTT	0.383000										HNSCC(51;0.14)				13			5		0	0	0.000602214	0	0
IDO2	169355	broad.mit.edu	37	8	39873107	39873107	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:39873107C>T	uc010lwy.1	+	10	1491	c.1249C>T	c.(1249-1251)Cac>Tac	p.H417Y	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.H158Y|IDO2_uc003xnp.1_Missense_Mutation_p.H158Y	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	404					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GTCAATCCTTCACCCACGTGG	0.577000														35			16		0	0	0.000308642	0	0
RBM11	54033	broad.mit.edu	37	21	15599441	15599441	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:15599441G>A	uc002yjo.4	+	4	715	c.673G>A	c.(673-675)Gga>Aga	p.G225R	RBM11_uc002yjn.4_Missense_Mutation_p.G111R|RBM11_uc002yjp.4_Missense_Mutation_p.G111R	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	225							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCTTGAGGCTGGACCCAGCTC	0.428000														196			33		0	0	0.00195071	0	0
PPAPDC2	403313	broad.mit.edu	37	9	4662875	4662875	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:4662875T>C	uc003zin.3	+	0	578	c.500T>C	c.(499-501)aTg>aCg	p.M167T	SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA.	167						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GAGGTGCTGATGAACCTGCTC	0.647000														45			15		0	0	0.000308642	0	0
IL16	3603	broad.mit.edu	37	15	81592044	81592044	+	Missense_Mutation	SNP	C	T	T	rs149410949		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:81592044C>T	uc021ssh.1	+	12	2478	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C	IL16_uc010blq.1_Missense_Mutation_p.R747C|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.R835C|IL16_uc002bgg.3_Missense_Mutation_p.R793C|IL16_uc002bgi.1_Missense_Mutation_p.R183C|IL16_uc002bgj.3_Missense_Mutation_p.R287C|IL16_uc021ssi.1_Missense_Mutation_p.R92C|IL16_uc002bgl.1_Missense_Mutation_p.R92C|IL16_uc010unq.1_Missense_Mutation_p.R92C	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	793					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.S792delS(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGCCTGGTTTCGCCAAAGCTT	0.562000														50			11		0	0	0.000978159	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629803	7629803	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:7629803G>A	uc002cys.2	+	5	1283	c.295G>A	c.(295-297)Gat>Aat	p.D99N	RBFOX1_uc010buf.1_Missense_Mutation_p.D99N|RBFOX1_uc002cyr.1_Missense_Mutation_p.D98N|RBFOX1_uc002cyt.2_Missense_Mutation_p.D99N|RBFOX1_uc010uxz.1_Missense_Mutation_p.D142N|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.D99N|RBFOX1_uc010uyb.1_Missense_Mutation_p.D99N|RBFOX1_uc002cyw.2_Missense_Mutation_p.D119N|RBFOX1_uc002cyy.2_Missense_Mutation_p.D119N|RBFOX1_uc002cyx.2_Missense_Mutation_p.D119N|RBFOX1_uc010uyc.1_Missense_Mutation_p.D119N	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	99					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGCACCGACGGATGGCCAGCC	0.527000														27			12		0	0	0.00185496	0	0
UNC13C	440279	broad.mit.edu	37	15	54786930	54786930	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:54786930C>T	uc021smr.1	+	17	5052	c.5052C>T	c.(5050-5052)tcC>tcT	p.S1684S	UNC13C_uc021sms.1_Silent_p.S1686S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1686	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAATACTCCTTGTAAGTAG	0.348000														109			25		0	0	0.001512	0	0
ASPG	374569	broad.mit.edu	37	14	104570766	104570766	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:104570766C>T	uc001yop.2	+	7	964	c.879C>T	c.(877-879)atC>atT	p.I293I	ASPG_uc001yoo.2_Silent_p.I321I|ASPG_uc001yoq.2_Silent_p.I293I|ASPG_uc001yor.2_Silent_p.I293I	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	293	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.V292L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCTGGTCATCGTCAACTGTA	0.652000														36			8		0	0	0.000442599	0	0
SLIT3	6586	broad.mit.edu	37	5	168201350	168201350	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:168201350C>T	uc010jjg.3	-	12	1605	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R	SLIT3_uc003mab.3_Silent_p.R395R|SLIT3_uc010jji.2_Silent_p.R395R|SLIT3_uc003mac.1_Silent_p.R192R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	395			R -> Q (in dbSNP:rs2288792).		Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.R395L(3)|p.R395R(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGTGTTCACCCGCAGGCAGT	0.537000														193			43		0	0	0.000781405	0	0
SESN2	83667	broad.mit.edu	37	1	28599131	28599131	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:28599131G>A	uc001bps.3	+	4	973	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	193					cell cycle arrest	cytoplasm|nucleus		p.E193K(2)|p.A192T(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-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;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCCTGGCCGAGCTCATTCA	0.642000														102			28		0	0	0.000814825	0	0
PDGFD	80310	broad.mit.edu	37	11	103780454	103780454	+	Missense_Mutation	SNP	C	T	T	rs146343067	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:103780454C>T	uc001phq.3	-	6	1453	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	PDGFD_uc001php.3_Missense_Mutation_p.D355N	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	361					positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGATACAATCACATCGTTCA	0.458000														81			46		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	2	89476122	89476122	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:89476122C>T	uc021vkt.1	-	32		c.3431_splice	c.e32-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		CCCACTGGATCCTGAAATAAT	0.408000														49			9		0	0	0.000274275	0	0
STK31	56164	broad.mit.edu	37	7	23768756	23768756	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:23768756G>A	uc003sws.4	+	5	438	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	STK31_uc003swt.4_Missense_Mutation_p.R101Q|STK31_uc011jze.2_Missense_Mutation_p.R124Q|STK31_uc010kuq.3_Missense_Mutation_p.R101Q	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	124	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTCTAAATCGATCTGATATA	0.358000														83			35		0	0	0.00111076	0	0
IRAK1	3654	broad.mit.edu	37	X	153283471	153283471	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153283471G>A	uc004fjs.1	-	6	974	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	IRAK1_uc004fjr.1_Missense_Mutation_p.R299C|IRAK1_uc004fjt.1_Missense_Mutation_p.R299C|IRAK1_uc004fju.2_Missense_Mutation_p.R325C	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	299	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGGAGACGGTCCTCCAGG	0.632000														30			20		0	0	0.000375601	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209948796	209948796	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:209948796G>A	uc001hho.3	+	9	1297	c.877G>A	c.(877-879)Gag>Aag	p.E293K	TRAF3IP3_uc001hhm.2_Missense_Mutation_p.E293K|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.E273K|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.E293K	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	293						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGTGCTGGAGGAGAAAATGAA	0.512000														39			12		0	0	0.000308642	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29451033	29451033	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:29451033C>T	uc002kxc.4	-	14	2477	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	TRAPPC8_uc002kxb.4_Missense_Mutation_p.E651K|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	705					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAGAGGATTCAGAATCATAT	0.358000														23			8		0	0	0.000673444	0	0
UNC13C	440279	broad.mit.edu	37	15	54685300	54685300	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:54685300G>A	uc021smr.1	+	15	4762	c.4762G>A	c.(4762-4764)Gat>Aat	p.D1588N	UNC13C_uc021sms.1_Missense_Mutation_p.D1590N|UNC13C_uc002acl.3_Missense_Mutation_p.D420N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1590					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAGAATTTGGATTTTTGGCC	0.393000														30			4		0	0	0.00116845	0	0
SMPD4	55627	broad.mit.edu	37	2	130930381	130930381	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:130930381G>A	uc002tqq.2	-	5	1699	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	SMPD4_uc002tqp.2_5'UTR|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_Missense_Mutation_p.L52F|SMPD4_uc002tqr.2_Missense_Mutation_p.L184F|SMPD4_uc010zaa.2_Missense_Mutation_p.L71F|SMPD4_uc010zab.2_Missense_Mutation_p.L111F|SMPD4_uc002tqt.2_Missense_Mutation_p.L62F|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	145					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	TTCAGACCAAGGCCCCCAGTA	0.607000														22			11		0	0	0.000978159	0	0
LONRF3	79836	broad.mit.edu	37	X	118151570	118151570	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:118151570C>T	uc004eqw.3	+	10	2228	c.2197C>T	c.(2197-2199)Ccc>Tcc	p.P733S	LONRF3_uc004eqx.3_Missense_Mutation_p.P692S|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.P477S	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	733	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGCTCAGCTCCCCTTCCTAGC	0.507000														23			11		0	0	0.000673444	0	0
NOVA2	4858	broad.mit.edu	37	19	46443169	46443169	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:46443169G>A	uc002pdv.2	-	3	1479	c.1431C>T	c.(1429-1431)gtC>gtT	p.V477V		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	477						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCTCGTAGGTGACCCGCTGAC	0.637000														26			22		0	0	0.000375601	0	0
FANK1	92565	broad.mit.edu	37	10	127697982	127697982	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:127697982G>A	uc009yan.3	+	11	1195	c.1091G>A	c.(1090-1092)aGg>aAg	p.R364K	FANK1_uc001ljh.4_Missense_Mutation_p.R338K|FANK1_uc001lji.3_3'UTR	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	338						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AAAAAGCAGAGGCCAAAGAAG	0.418000														40			8		0	0	0.000274275	0	0
ASB15	142685	broad.mit.edu	37	7	123269251	123269251	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:123269251C>T	uc003vku.1	+	9	1495	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	ASB15_uc003vkw.1_Silent_p.S401S	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	401					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGCTTCTCTCCCATGGAGCTA	0.443000														57			35		0	0	0.0024448	0	0
AASS	10157	broad.mit.edu	37	7	121753694	121753694	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:121753694G>A	uc003vka.3	-	8	1220	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.P375L|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	375	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CATGCAAAAGGGATGCTCTAT	0.368000														40			26		0	0	0.000720815	0	0
STOML3	161003	broad.mit.edu	37	13	39564817	39564817	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:39564817C>T	uc001uwx.3	-	0	180	c.42G>A	c.(40-42)gaG>gaA	p.E14E	STOML3_uc010tez.2_5'UTR	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	14						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCACGAAATTCTCTTTATCTT	0.378000														56			16		0	0	0.00074312	0	0
CRTC2	200186	broad.mit.edu	37	1	153921092	153921092	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:153921092G>A	uc021pab.1	-	12	1862	c.1703C>T	c.(1702-1704)tCa>tTa	p.S568L	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.S104L	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	568					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGCTGGCTGATGGGCTCTC	0.537000														101			6		0	0	0.000442599	0	0
TCF20	6942	broad.mit.edu	37	22	42608868	42608868	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:42608868G>A	uc003bcj.1	-	0	2578	c.2444C>T	c.(2443-2445)cCc>cTc	p.P815L	TCF20_uc003bck.1_Missense_Mutation_p.P815L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCCCAGTGGGGATTTTCTAA	0.443000														49			24		0	0	0.00047179	0	0
FAM114A1	92689	broad.mit.edu	37	4	38942609	38942609	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:38942609C>T	uc003gtn.3	+	13	1816	c.1557C>T	c.(1555-1557)gtC>gtT	p.V519V	FAM114A1_uc011byh.2_Silent_p.V312V|FAM114A1_uc010ifi.3_Silent_p.V177V	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	519						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGCCGAGGTCCTTAACCCCA	0.388000														55			13		0	0	0.000566183	0	0
LYZL4	131375	broad.mit.edu	37	3	42448635	42448635	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:42448635C>T	uc003cle.3	-	1	358	c.109G>A	c.(109-111)Gat>Aat	p.D37N		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	37					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCAAAATAATCCAGGCCTCCA	0.552000														63			13		0	0	0.00185496	0	0
C19orf44	84167	broad.mit.edu	37	19	16611602	16611602	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16611602G>A	uc002neh.1	+	2	73	c.0_splice	c.e2-1		MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Splice_Site|C19orf44_uc002neg.3_Splice_Site|C19orf44_uc010eai.1_Splice_Site	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTCCTCCACAGAATGGCTTCT	0.443000														179			72		0	0	0.000781405	0	0
SPTA1	6708	broad.mit.edu	37	1	158615343	158615343	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158615343G>A	uc001fst.1	-	27	4137	c.3938C>T	c.(3937-3939)tCa>tTa	p.S1313L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1313					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCCTGTGATGATACCATGCC	0.448000														112			24		0	0	0.00178596	0	0
RFPL1	5988	broad.mit.edu	37	22	29837868	29837868	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:29837868C>T	uc003afn.3	+	1	920	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	237	B30.2/SPRY.						zinc ion binding	p.F237F(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTTTCCTCTTCGTAGACCGCA	0.512000														76			20		0	0	0.00178596	0	0
CLCA1	1179	broad.mit.edu	37	1	86959213	86959213	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:86959213G>A	uc001dlt.3	+	9	1871	c.1611G>A	c.(1609-1611)caG>caA	p.Q537Q	CLCA1_uc001dls.1_Silent_p.Q476Q	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	537					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CCAGTGGACAGAAGCAAGGTG	0.478000														55			13		0	0	0.000308642	0	0
NR4A2	4929	broad.mit.edu	37	2	157182757	157182757	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:157182757C>T	uc002tyz.4	-	6	1867	c.1445G>A	c.(1444-1446)tGg>tAg	p.W482*	NR4A2_uc021vri.1_Nonsense_Mutation_p.W457*|NR4A2_uc002tyx.4_Nonsense_Mutation_p.W419*|NR4A2_uc010zcf.2_Nonsense_Mutation_p.W482*|NR4A2_uc010zcg.1_Intron	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	482					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGAATCAATCCATTCCCCAAA	0.473000														73			19		0	0	0.00121646	0	0
SNX14	57231	broad.mit.edu	37	6	86277278	86277278	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:86277278C>A	uc003pkr.3	-	4	628	c.435G>T	c.(433-435)ttG>ttT	p.L145F	SNX14_uc003pkp.3_Missense_Mutation_p.L8F|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.L93F|SNX14_uc003pks.3_Intron|SNX14_uc003pkt.3_Missense_Mutation_p.L145F	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	145	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAAAGTTTTCCAACACTAATT	0.269000														99			7		0.000673444	0.00317651	0.000673444	1	0
MYO1A	4640	broad.mit.edu	37	12	57435264	57435264	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:57435264C>T	uc001smw.4	-	12	1356	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K	MYO1A_uc010sqz.2_Silent_p.K210K|MYO1A_uc009zpd.3_Silent_p.K372K	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	372	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTACCTTCTTCTTTTCCCCGA	0.537000														50			26		0	0	0.00127121	0	0
SND1	27044	broad.mit.edu	37	7	127343259	127343259	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:127343259C>T	uc003vmi.3	+	6	948	c.722C>T	c.(721-723)cCa>cTa	p.P241L		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	241	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGTGAAACTCCAGAGCCTTTT	0.488000														61			30		0	0	0.00058488	0	0
GLI3	2737	broad.mit.edu	37	7	42065950	42065951	+	Silent	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:42065950_42065951GG>AA	uc011kbh.2	-	7	1180_1181	c.1089_1090CC>TT	c.(1087-1092)atccta>atTTta	p.363_364IL>IL	GLI3_uc011kbg.2_Silent_p.304_305IL>IL	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	363					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTCGGCTTAGGATCTGCTGAT	0.540000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					53			11		0	0	6.4e-05	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334311	37334311	+	Missense_Mutation	SNP	G	A	A	rs146598061		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:37334311G>A	uc003aqa.4	+	13	2678	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	CSF2RB_uc003aqc.4_Missense_Mutation_p.D827N	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	821					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.G820D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCAAGTGGGCGACTATTGCTT	0.647000														121			48		0	0	0.000781405	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780821	25780821	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:25780821A>T	uc003gru.4	-	15	2614	c.2462T>A	c.(2461-2463)tTa>tAa	p.L821*	SEL1L3_uc003grv.3_Nonsense_Mutation_p.L228*	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	821						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTCACCAGCTAAAGTCTGTAA	0.463000														53			9		0	0	0.000673444	0	0
LSG1	55341	broad.mit.edu	37	3	194371730	194371730	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:194371730G>A	uc003fui.3	-	9	1614	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	433	G.				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CACACAGGCAGAGGCCAGGCT	0.488000														48			9		0	0	0.000978159	0	0
SSTR4	6754	broad.mit.edu	37	20	23017048	23017048	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:23017048C>T	uc002wsr.2	+	0	992	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	310					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAACCCCATTCTCTATGGCTT	0.597000														154			51		0	0	0.000781405	0	0
GPR78	27201	broad.mit.edu	37	4	8588947	8588947	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:8588947C>T	uc003glk.3	+	2	1442	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	317					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GAAGAGAACCCCGCGCCCAGC	0.672000														62			12		0	0	0.00136819	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:20033087G>A	uc002wrs.3	-	1	415	c.383C>T	c.(382-384)tCc>tTc	p.S128F	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.S116F	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000														67			23		0	0	0.00047179	0	0
DNAH7	56171	broad.mit.edu	37	2	196749422	196749422	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196749422G>A	uc002utj.4	-	34	5751	c.5650C>T	c.(5650-5652)Cga>Tga	p.R1884*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1884					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCGAGTTCGATCTGAAATT	0.358000														60			28		0	0	0.000878237	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147239	26147239	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:26147239C>T	uc002dof.3	+	1	1433	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	347					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCAGTATTTCCCCCTCTCCC	0.537000														44			35		0	0	0.00058488	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747901	41747901	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:41747901G>A	uc003gwf.4	-	2	1228	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	290					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGGCGAAGGGACCCCCAAGC	0.672000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					71			21		0	0	0.000720815	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587261	42587261	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:42587261G>A	uc003xpi.1	+	4	939	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	271					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCCACATCGGTCTTGGTTTC	0.423000														128			37		0	0	0.00111076	0	0
GJD2	57369	broad.mit.edu	37	15	35045253	35045253	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:35045253C>T	uc001zis.1	-	1	392	c.392G>A	c.(391-393)gGg>gAg	p.G131E	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	131	Poly-Gly.				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T130P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCCCCCACCCCCAGTTCCTCC	0.562000														82			24		0	0	0.000375601	0	0
PLD5	200150	broad.mit.edu	37	1	242271057	242271057	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:242271057C>T	uc001hzn.2	-	8	1382	c.1155G>A	c.(1153-1155)tgG>tgA	p.W385*	PLD5_uc021pll.1_Nonsense_Mutation_p.W293*|PLD5_uc001hzl.4_Nonsense_Mutation_p.W323*|PLD5_uc001hzm.4_Nonsense_Mutation_p.W177*|PLD5_uc001hzo.2_Nonsense_Mutation_p.W293*	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	385						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAGTTTCCTTCCAGAAGCTTA	0.378000														109			41		0	0	0.00128727	0	0
LUM	4060	broad.mit.edu	37	12	91502681	91502681	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:91502681G>A	uc001tbm.3	-	1	465	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	26					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						ATTGATAGGGGAAAATCATAA	0.413000														27			13		0	0	0.00185496	0	0
INADL	10207	broad.mit.edu	37	1	62340940	62340940	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:62340940C>T	uc001dab.3	+	20	2975	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	INADL_uc009waf.1_Missense_Mutation_p.S954F|INADL_uc001daa.2_Missense_Mutation_p.S954F|INADL_uc001dad.3_Missense_Mutation_p.S651F|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	954					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCATGGAGTCCCTACCATCT	0.343000														66			24		0	0	0.000878237	0	0
KCNQ1	3784	broad.mit.edu	37	11	2549237	2549237	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:2549237C>T	uc001lwn.3	+	1	574	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	KCNQ1_uc009ydo.1_3'UTR|KCNQ1_uc009ydp.1_Silent_p.L8L|KCNQ1_uc001lwo.3_Missense_Mutation_p.L29F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	156					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CACGGGGACTCTCTTCTGGAT	0.617000														459			91		0	0	0.000781405	0	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7576897G>A	uc002gim.2	-	8	1143	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.Q317*|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Nonsense_Mutation_p.Q185*|TP53_uc010cnf.1_Nonsense_Mutation_p.Q185*|TP53_uc002gii.1_Nonsense_Mutation_p.Q185*|TP53_uc010cni.1_Nonsense_Mutation_p.Q317*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q317*|TP53_uc002gij.2_Nonsense_Mutation_p.Q317*|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(53)|p.0?(8)|p.Q317K(6)|p.P316P(2)|p.Q317fs*28(2)|p.Q317R(2)|p.Q317fs*45(2)|p.Q317fs*19(2)|p.S315fs*22(1)|p.?(1)|p.Q317fs*?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.P316fs*21(1)|p.P316L(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)		TTCTTTGGCTGGGGAGAGGAG	0.473000		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			42		0	0	0.000781405	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474655	102474655	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:102474655C>T	uc001yks.2	+	28	6122	c.5958C>T	c.(5956-5958)tcC>tcT	p.S1986S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1986	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S1986C(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGAACATTCCAACCCCAACT	0.488000														33			9		0	0	0.000673444	0	0
CMYA5	202333	broad.mit.edu	37	5	79089401	79089401	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:79089401C>T	uc003kgc.3	+	11	12003	c.11931C>T	c.(11929-11931)acC>acT	p.T3977T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3977	B30.2/SPRY.					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)		AAGGGGAGACCTCATGGTACA	0.567000														39			8		0	0	0.000673444	0	0
NEB	4703	broad.mit.edu	37	2	152529026	152529026	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152529026C>T	uc021vrb.1	-	34	4185	c.4156G>A	c.(4156-4158)Gac>Aac	p.D1386N	NEB_uc002txu.3_Missense_Mutation_p.D1386N|NEB_uc021vrc.1_Missense_Mutation_p.D1386N|NEB_uc010fnx.3_Missense_Mutation_p.D1386N|NEB_uc021vrd.1_Missense_Mutation_p.D1386N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1386					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTAACCATGTCCCCAGGGGTA	0.473000														55			14		0	0	0.00074312	0	0
PAPPA	5069	broad.mit.edu	37	9	118997420	118997420	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:118997420C>T	uc004bjn.3	+	6	2617	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y	PAPPA_uc011lxp.1_Missense_Mutation_p.H441Y|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	746					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGCATAGGTCATCCTGATGT	0.517000														41			20		0	0	0.00047179	0	0
EVPL	2125	broad.mit.edu	37	17	74004096	74004096	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:74004096C>T	uc010wss.1	-	21	5484	c.5256G>A	c.(5254-5256)ggG>ggA	p.G1752G	EVPL_uc002jqi.2_Silent_p.G1730G|EVPL_uc010wst.1_Silent_p.G1200G	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1730	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.A1751A(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCCACAGGGCCCCGAGGTGG	0.642000														31			11		0	0	0.000978159	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567128	173567128	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:173567128G>A	uc001giz.2	-	3	695	c.272C>T	c.(271-273)tCa>tTa	p.S91L	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	91					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGAATAAAGTGAAAAACTTGA	0.303000														46			40		0	0	0.00170553	0	0
PITPNC1	26207	broad.mit.edu	37	17	65628352	65628352	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:65628352G>A	uc002jgc.3	+	5	807	c.460G>A	c.(460-462)Gag>Aag	p.E154K	PITPNC1_uc002jgb.3_Missense_Mutation_p.E154K	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	154					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CAAAGAATCTGAGGTAAGCAA	0.408000														39			13		0	0	0.000219431	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238578	21238578	+	Missense_Mutation	SNP	G	A	A	rs28731276	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21238578G>A	uc021ron.1	+	0	269	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	EDDM3B_uc001vyd.3_Missense_Mutation_p.R90Q	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	90					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GATCGCTTCCGAAATGCATAT	0.408000														30			5		0	0	0.000602214	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873608	24873608	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:24873608G>A	uc001isb.2	-	25	6097	c.5610C>T	c.(5608-5610)atC>atT	p.I1870I	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1869					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGGATCTCCGATTTCTCCTC	0.532000														64			14		0	0	0.000219431	0	0
CD207	50489	broad.mit.edu	37	2	71060879	71060879	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:71060879G>A	uc002shg.3	-	2	510	c.463C>T	c.(463-465)Cca>Tca	p.P155S		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	155					defense response to virus	endocytic vesicle|integral to membrane	mannose binding	p.P155Q(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTTAACTCTGGGATTTGGGCA	0.438000														62			11		0	0	0.000978159	0	0
NPY5R	4889	broad.mit.edu	37	4	164272660	164272660	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:164272660T>A	uc003iqn.3	+	3	1417	c.1235T>A	c.(1234-1236)tTg>tAg	p.L412*	NPY5R_uc021xtw.1_Nonsense_Mutation_p.L412*	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	412					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.L412*(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTGTCATTTGTTGGGCATG	0.348000														126			23		0	0	0.000375601	0	0
CCDC105	126402	broad.mit.edu	37	19	15132481	15132481	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:15132481G>A	uc002nae.2	+	4	1194	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	365					microtubule cytoskeleton organization	microtubule		p.T365T(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCGGTGTACGAAATATAACC	0.592000														61			32		0	0	0.00128727	0	0
SIRPG	55423	broad.mit.edu	37	20	1629872	1629872	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:1629872G>A	uc002wfm.1	-	1	321	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	SIRPG_uc002wfn.1_Missense_Mutation_p.P86S|SIRPG_uc002wfo.1_Missense_Mutation_p.P86S	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	86	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTTACCCTGGGGAAGTGGCCT	0.517000														71			30		0	0	0.00209593	0	0
CNKSR3	154043	broad.mit.edu	37	6	154567804	154567804	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:154567804C>T	uc021zhc.1	-	14	2055	c.1550G>A	c.(1549-1551)gGa>gAa	p.G517E	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpw.3_Missense_Mutation_p.G56E|CNKSR3_uc003qpx.3_Missense_Mutation_p.G55E|CNKSR3_uc010kjh.3_Missense_Mutation_p.G56E|CNKSR3_uc021zhd.1_Missense_Mutation_p.G100E|CNKSR3_uc021zhe.1_Intron	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	295	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TAGGAAACTTCCCTTTTCCTT	0.453000														48			22		0	0	0.00152264	0	0
RAPH1	65059	broad.mit.edu	37	2	204359988	204359988	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:204359988G>A	uc002vad.3	-	1	314	c.89C>T	c.(88-90)gCc>gTc	p.A30V	RAPH1_uc002vae.3_Missense_Mutation_p.A30V|RAPH1_uc002vaf.3_Missense_Mutation_p.A30V	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	30					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCAAGCCAGGCTCCAAACAT	0.413000														133			47		0	0	0.000781405	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135239	126135239	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:126135239G>A	uc001uhe.1	+	6	1647	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	TMEM132B_uc001uhf.1_Missense_Mutation_p.E59K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	547						integral to membrane		p.R546W(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCTACCCGGGAAAGCGATGA	0.537000														21			13		0	0	0.000219431	0	0
KCNH5	27133	broad.mit.edu	37	14	63175164	63175164	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:63175164G>A	uc001xfx.3	-	10	2080	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	KCNH5_uc001xfy.3_Missense_Mutation_p.S611L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	677					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R677C(2)|p.R677H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGATCTTACGAAAGATGATC	0.458000														61			9		0	0	0.000442599	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857330	9857330	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:9857330G>A	uc010uym.2	-	13	4381	c.4071C>T	c.(4069-4071)ctC>ctT	p.L1357L	GRIN2A_uc002czo.4_Silent_p.L1357L|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1357					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L1357L(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTCTGGCAAGAGAGACTTGC	0.537000														31			14		0	0	0.000308642	0	0
COL23A1	91522	broad.mit.edu	37	5	177690259	177690259	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:177690259G>A	uc021yiz.1	-	8	947	c.589C>T	c.(589-591)Cct>Tct	p.P197S	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.A44A	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	197	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCGCCAGGAGGGCCCCGGGCC	0.652000														30			10		0	0	0.000442599	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004729	52004729	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:52004729C>T	uc002pwx.1	-	0	315	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	87	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGAGTCTCCTCCTGCACTGCT	0.572000														70			30		0	0	0.00058488	0	0
NOTCH4	4855	broad.mit.edu	37	6	32185036	32185036	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32185036G>A	uc003obb.3	-	9	1771	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.S544S	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	544	EGF-like 13; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCGGGTGCCGGAGAATCCTG	0.612000														101			55		0	0	0.000781405	0	0
SCP2	6342	broad.mit.edu	37	1	53480614	53480614	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:53480614G>A	uc001cur.2	+	11	1302	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	SCP2_uc010ono.2_Silent_p.K297K|SCP2_uc010onp.2_Silent_p.K354K|SCP2_uc009vzi.2_Silent_p.K334K|SCP2_uc001cus.2_5'UTR|SCP2_uc010onq.1_5'UTR|SCP2_uc001cut.2_5'UTR|SCP2_uc001cuu.2_5'UTR	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	378					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						AAGCCGGAAAGAGGCAAGTTC	0.522000														62			18		0	0	0.00074312	0	0
OR51M1	390059	broad.mit.edu	37	11	5411009	5411009	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:5411009C>T	uc010qzc.2	+	0	403	c.381C>T	c.(379-381)ctC>ctT	p.L127L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	127						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGTGCTCCTCATGATGT	0.493000														188			26		0	0	0.001512	0	0
METTL4	64863	broad.mit.edu	37	18	2544257	2544257	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:2544257G>A	uc002klh.4	-	7	1990	c.1210C>T	c.(1210-1212)Cca>Tca	p.P404S	METTL4_uc010dkj.3_Intron	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	404					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TTGTGGTCTGGAATGGGGAGC	0.348000														56			8		0	0	0.000442599	0	0
CACNG3	10368	broad.mit.edu	37	16	24372881	24372881	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:24372881C>T	uc002dmf.3	+	3	1847	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	215					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACTCGGAGTTCCTGAAGAAAT	0.522000														30			16		0	0	0.000308642	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215780	130215780	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:130215780G>A	uc004evz.3	+	1	486	c.141G>A	c.(139-141)acG>acA	p.T47T	ARHGAP36_uc004ewa.3_Silent_p.T35T|ARHGAP36_uc004ewb.3_Silent_p.T16T|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	47					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACCGCAGGACGAAGATGGTAT	0.537000														81			38		0	0	0.000509022	0	0
EIF2D	1939	broad.mit.edu	37	1	206785667	206785667	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:206785667G>A	uc001heh.2	-	0	238	c.29C>T	c.(28-30)tCc>tTc	p.S10F	EIF2D_uc009xbw.2_Missense_Mutation_p.S10F|EIF2D_uc010prw.1_Missense_Mutation_p.S10F	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	10					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGCCGTGTTGGACTTGACCCG	0.622000														91			10		0	0	0.000978159	0	0
IFNA16	3449	broad.mit.edu	37	9	21216880	21216880	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:21216880G>A	uc003zor.1	-	0	431	c.425C>T	c.(424-426)gCt>gTt	p.A142V	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	142					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTTCCTCACAGCCAGGATGGA	0.463000														84			48		0	0	0.000781405	0	0
TGM3	7053	broad.mit.edu	37	20	2320599	2320599	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:2320599G>A	uc002wfx.4	+	11	1997	c.1900G>A	c.(1900-1902)Gga>Aga	p.G634R		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	634					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L630fs*5(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GATGGTGGAGGGAAGCGGCCT	0.647000														27			13		0	0	0.00185496	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604599	58604599	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:58604599G>A	uc001nnd.4	-	4	496	c.365C>T	c.(364-366)tCa>tTa	p.S122L	GLYATL2_uc009ymq.3_Missense_Mutation_p.S122L	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	122						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TACCTGCACTGATTTTGAAGT	0.403000														42			13		0	0	0.000219431	0	0
FAM153B	202134	broad.mit.edu	37	5	175530253	175530253	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:175530253G>A	uc003mdk.3	+	12	745	c.688G>A	c.(688-690)Gag>Aag	p.E230K	FAM153B_uc021yic.1_Intron	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	230										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGTACTTCAGGAGCTGTCCAG	0.488000														299			22		0	0	0.001512	0	0
C1orf85	112770	broad.mit.edu	37	1	156264212	156264212	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156264212C>G	uc001foh.3	-	2	536	c.523G>C	c.(523-525)Ggc>Cgc	p.G175R	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	175					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					ATGGGGTGGCCTTGAAATGTG	0.507000														65			9		0	0	0.000442599	0	0
COL5A2	1290	broad.mit.edu	37	2	189951477	189951477	+	Missense_Mutation	SNP	C	T	T	rs146963088		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189951477C>T	uc002uqk.3	-	8	940	c.665G>A	c.(664-666)gGa>gAa	p.G222E	COL5A2_uc010frx.3_5'Flank	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	222					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G222V(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCCTGTGGTCCCCTTGGGCC	0.358000														18			5		0	0	0.00116845	0	0
MCTP1	79772	broad.mit.edu	37	5	94248532	94248533	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:94248532_94248533CC>TT	uc003kkx.2	-	8	1499_1500	c.1499_1500GG>AA	c.(1498-1500)ggg>gAA	p.G500E	MCTP1_uc003kkv.2_Missense_Mutation_p.G279E|MCTP1_uc003kkw.2_Missense_Mutation_p.G233E|MCTP1_uc003kkz.2_Missense_Mutation_p.G161E|MCTP1_uc003kku.2_Missense_Mutation_p.G16E	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	500	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ACTTCTGATGCCCAAGCCGGAA	0.470000														43			13		0	0	6.4e-05	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207901	140207901	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140207901G>A	uc003lho.2	+	0	252	c.225G>A	c.(223-225)ctG>ctA	p.L75L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.L75L|PCDHAC2_uc011dab.2_Silent_p.L75L	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	90	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L75L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTTCTGGAGGTAAATC	0.632000														183			41		0	0	0.000680045	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357125	36357125	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:36357125G>A	uc002ocb.4	+	14	2070	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Missense_Mutation_p.G582R|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	620					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGAAGCCCCTGGAGGAGGTCT	0.612000														42			15		0	0	0.000958276	0	0
FAM129A	116496	broad.mit.edu	37	1	184764460	184764460	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:184764460C>T	uc001gra.3	-	13	2632	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	813	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGGAGCTCCCCCTCCATGGG	0.657000														27			12		0	0	0.00136819	0	0
PRSS12	8492	broad.mit.edu	37	4	119203159	119203159	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:119203159C>T	uc003ica.2	-	12	2607	c.2560G>A	c.(2560-2562)Gat>Aat	p.D854N		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	854	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGGAGAATCCTTGACTCCA	0.498000														68			8		0	0	0.000157383	0	0
BC128131	0	broad.mit.edu	37	19	23159812	23159812	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:23159812C>T	uc002nqz.1	-	1	161	c.135G>A	c.(133-135)gaG>gaA	p.E45E	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		ACTGTAAATTCTCATGTCCAC	0.353000														27			8		0	0	0.000157383	0	0
MCTP2	55784	broad.mit.edu	37	15	94899414	94899414	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:94899414C>T	uc002btj.3	+	7	1119	c.1054C>T	c.(1054-1056)Caa>Taa	p.Q352*	MCTP2_uc010urg.1_Nonsense_Mutation_p.Q352*|MCTP2_uc002bti.2_Nonsense_Mutation_p.Q352*|MCTP2_uc010boj.3_Nonsense_Mutation_p.Q81*|MCTP2_uc010bok.3_Nonsense_Mutation_p.Q352*|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	352	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GAAAAAGAACCAACTCTGGAA	0.398000														73			16		0	0	0.000958276	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898678	160898678	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:160898678C>T	uc002ube.2	-	2	737	c.525G>A	c.(523-525)ggG>ggA	p.G175G	PLA2R1_uc010zcp.2_Silent_p.G175G|PLA2R1_uc002ubf.3_Silent_p.G175G	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	175	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACACGGCATCCCGTGGGTGT	0.433000														42			16		0	0	0.000422831	0	0
PCLO	27445	broad.mit.edu	37	7	82586143	82586143	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82586143C>T	uc003uhx.2	-	4	4415	c.4126G>A	c.(4126-4128)Gaa>Aaa	p.E1376K	PCLO_uc003uhv.2_Missense_Mutation_p.E1376K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1307					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGGAATTTCACCAAGTGAG	0.443000														35			17		0	0	0.000422831	0	0
POFUT1	23509	broad.mit.edu	37	20	30816069	30816069	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:30816069T>G	uc002wxp.3	+	4	595	c.546T>G	c.(544-546)ttT>ttG	p.F182L	POFUT1_uc010ztt.2_Missense_Mutation_p.F74L|POFUT1_uc010ztu.2_5'UTR	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	182					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTCTAGATTTTCTCCAAAGG	0.572000														32			11		0	0	0.000673444	0	0
DSG4	147409	broad.mit.edu	37	18	28968349	28968349	+	Missense_Mutation	SNP	C	T	T	rs36040686	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28968349C>T	uc002kwr.2	+	3	371	c.236C>T	c.(235-237)tCg>tTg	p.S79L	DSG4_uc002kwq.2_Missense_Mutation_p.S79L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	79	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACTGCGAATCGAACCAGAAG	0.418000														17			6		0	0	0.00116845	0	0
DNAH7	56171	broad.mit.edu	37	2	196722105	196722105	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196722105C>T	uc002utj.4	-	43	8511	c.8410G>A	c.(8410-8412)Gat>Aat	p.D2804N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2804	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTTACTTATCATATGAATCC	0.358000														35			21		0	0	0.000586117	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672504	141672504	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:141672504G>A	uc003vwx.1	-	0	1070	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	329					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGTGTCCGGGAATCTGCCTT	0.478000														40			12		0	0	0.000566183	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181661	140181661	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140181661C>T	uc003lhf.2	+	0	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F293F	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	308	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAAAATTCCATTTAGATC	0.393000														119			35		0	0	0.00222228	0	0
SIK3	23387	broad.mit.edu	37	11	116719919	116719919	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:116719919G>A	uc001ppy.3	-	20	3454	c.3418C>T	c.(3418-3420)Cca>Tca	p.P1140S	SIK3_uc001ppz.3_Missense_Mutation_p.P979S|SIK3_uc001pqa.3_Missense_Mutation_p.P1080S|SIK3_uc001ppw.3_Missense_Mutation_p.P497S|SIK3_uc001ppx.3_Missense_Mutation_p.P518S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1140						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGGCGTGCTGGGTACCCGAGC	0.582000														258			160		0	0	0.000781405	0	0
NHLRC2	374354	broad.mit.edu	37	10	115618409	115618409	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:115618409C>T	uc001lax.2	+	1	542	c.301C>T	c.(301-303)Cat>Tat	p.H101Y		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	101	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GCCTGATCTCCATGCATTAGA	0.393000														123			24		0	0	0.000375601	0	0
ANGPT1	284	broad.mit.edu	37	8	108315572	108315572	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:108315572C>T	uc003ymn.3	-	4	1300	c.832G>A	c.(832-834)Gag>Aag	p.E278K	ANGPT1_uc011lhv.2_Missense_Mutation_p.E78K|ANGPT1_uc003ymo.3_Missense_Mutation_p.E277K|ANGPT1_uc003ymp.4_Missense_Mutation_p.E77K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	278	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCTCTTCCTCTCTTTTTCCT	0.313000														36			9		0	0	0.000442599	0	0
WDR86	349136	broad.mit.edu	37	7	151093145	151093146	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:151093145_151093146GG>AA	uc011kvk.1	-	2	891_892	c.442_443CC>TT	c.(442-444)ccg>TTg	p.P148L	WDR86_uc003wka.2_Missense_Mutation_p.P106L|WDR86_uc003wkb.2_Missense_Mutation_p.P148L|WDR86_uc003wkc.2_Missense_Mutation_p.P20L			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	148										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGTCCCACGGGGCAGAGTAG	0.693000														19			12		0	0	6.4e-05	0	0
OR11H6	122748	broad.mit.edu	37	14	20692045	20692045	+	Silent	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20692045G>T	uc010tlc.2	+	0	177	c.177G>T	c.(175-177)ggG>ggT	p.G59G		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CACTGCTAGGGAATGGAGCTA	0.478000														61			13		9.31168e-06	4.42351e-05	0.00185496	1	0
VIL1	7429	broad.mit.edu	37	2	219294066	219294066	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219294066G>A	uc002vib.3	+	5	648	c.626G>A	c.(625-627)gGc>gAc	p.G209D	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.G209D|VIL1_uc002vic.1_Missense_Mutation_p.G209D	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	209	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTATGTAGGCGTGGTGGAC	0.642000														84			29		0	0	0.00178596	0	0
MYO3A	53904	broad.mit.edu	37	10	26243928	26243928	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:26243928G>C	uc001isn.2	+	3	654	c.294G>C	c.(292-294)ttG>ttC	p.L98F	MYO3A_uc009xko.1_Missense_Mutation_p.L98F|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.L98F|MYO3A_uc001ism.2_Missense_Mutation_p.L98F	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	98	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCTGTGGTTGGTTCTTGAGG	0.348000														81			12		0	0	0.00185496	0	0
DGKI	9162	broad.mit.edu	37	7	137374695	137374695	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:137374695C>T	uc003vtt.3	-	1	456	c.455G>A	c.(454-456)aGc>aAc	p.S152N	DGKI_uc003vtu.3_Intron	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	152					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CACAGGAAGGCTGAGGGGATG	0.483000														62			8		0	0	0.000978159	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713226	70713226	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:70713226C>T	uc010ttg.2	-	0	1293	c.642G>A	c.(640-642)atG>atA	p.M214I						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AGGTGGTCTTCATAAAATCAG	0.413000														65			10		0	0	0.000442599	0	0
OR2M4	26245	broad.mit.edu	37	1	248402872	248402872	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248402872C>T	uc010pzh.2	+	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I214I(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-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)			TTTCAGTTATCATACTTTCCT	0.473000														28			18		0	0	0.00121646	0	0
GFRAL	389400	broad.mit.edu	37	6	55223835	55223835	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:55223835G>A	uc003pcm.1	+	5	937	c.851G>A	c.(850-852)gGg>gAg	p.G284E		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	284						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GATATCCTTGGGACGGTCCTT	0.413000														30			19		0	0	0.00121646	0	0
abParts	0	broad.mit.edu	37	14	106780771	106780771	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106780771C>T	uc021ser.1	-	655		c.17923G>A								Parts of antibodies, mostly variable regions.																		CCGAAGGCTTCACCAGTCCTG	0.627000														41			9		0	0	0.000673444	0	0
NME9	347736	broad.mit.edu	37	3	138023816	138023816	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:138023816C>T	uc003esg.3	-	8	718	c.690G>A	c.(688-690)ctG>ctA	p.L230L	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Silent_p.L145L|NME9_uc003ese.1_Silent_p.L169L	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	230	NDK.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TGGTGAGGATCAGGAGGTGGC	0.602000														289			46		0	0	0.000781405	0	0
FN1	2335	broad.mit.edu	37	2	216269122	216269123	+	Missense_Mutation	DNP	GA	CC	CC			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:216269122_216269123GA>CC	uc002vfa.3	-	19	3508_3509	c.3242_3243TC>GG	c.(3241-3243)gtc>gGG	p.V1081G	FN1_uc002vfc.3_Missense_Mutation_p.V1081G|FN1_uc002vfe.3_Missense_Mutation_p.V1081G|FN1_uc002vff.3_Missense_Mutation_p.V1081G|FN1_uc002vfg.3_Missense_Mutation_p.V1081G|FN1_uc002vfh.3_Missense_Mutation_p.V1081G|FN1_uc002vfi.3_Missense_Mutation_p.V1081G|FN1_uc002vfj.3_Missense_Mutation_p.V1081G|FN1_uc002vfb.3_Missense_Mutation_p.V1081G	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1081	Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTGGTAAAGACTCCAGTGGC	0.411000														101			20		0	0	6.4e-05	0	0
OR7E24	26648	broad.mit.edu	37	19	9362159	9362159	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9362159C>T	uc002mlb.1	+	0	440	c.440C>T	c.(439-441)cCc>cTc	p.P147L		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATCTGTCACCCCCTGCACTAC	0.453000														73			16		0	0	0.000422831	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228606	204228606	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:204228606C>T	uc001hau.3	-	7	1104	c.787G>A	c.(787-789)Ggg>Agg	p.G263R	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	263	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCTGTTCCCCACCCCCTGGC	0.672000														26			14		0	0	0.000219431	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303995	151303995	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:151303995G>A	uc022cgz.1	-	0	98	c.98C>T	c.(97-99)gCt>gTt	p.A33V	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.A33V|MAGEA10_uc004ffm.2_Missense_Mutation_p.A33V|MAGEA10_uc004ffl.3_Missense_Mutation_p.A33V	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	33										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCCACAGCCAGGGGAGC	0.557000														18			17		0	0	0.000566183	0	0
SETD2	29072	broad.mit.edu	37	3	47125334	47125334	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:47125334G>A	uc003cqv.3	-	12	6223	c.6137C>T	c.(6136-6138)cCa>cTa	p.P2046L	SETD2_uc003cqs.3_Missense_Mutation_p.P1979L|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTTGGGATGGTGTTTCTTC	0.448000			"""N, F, S, Mis"""		clear cell renal carcinoma									102			31		0	0	0.001512	0	0
ANK3	288	broad.mit.edu	37	10	61830130	61830130	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:61830130G>A	uc001jky.3	-	36	10847	c.10509C>T	c.(10507-10509)ttC>ttT	p.F3503F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3503					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						CTTCCAGTGTGAAGAACTGGG	0.433000														47			6		0	0	0.00198382	0	0
MLL3	58508	broad.mit.edu	37	7	151945093	151945093	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:151945093C>T	uc003wla.3	-	13	2645	c.2426G>A	c.(2425-2427)gGa>gAa	p.G809E		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	809					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CATGATGTTTCCAGCAGAGGA	0.448000			N		medulloblastoma									465			19		0	0	0.00229938	0	0
TPH2	121278	broad.mit.edu	37	12	72338106	72338106	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:72338106C>T	uc009zrw.1	+	2	429	c.288C>T	c.(286-288)tcC>tcT	p.S96S	TPH2_uc001swy.2_Silent_p.S6S	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	96	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.S96Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ATATTGAATCCAGGAAATCTC	0.403000														32			10		0	0	0.000673444	0	0
MRE11A	4361	broad.mit.edu	37	11	94197315	94197315	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:94197315G>A	uc009ywj.2	-	10	1518	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	MRE11A_uc001peu.2_Missense_Mutation_p.H397Y|MRE11A_uc001pev.2_Missense_Mutation_p.H397Y			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	397					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTGAAAAAATGGATAATGTCT	0.343000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					70			31		0	0	0.00058488	0	0
LOC440563	440563	broad.mit.edu	37	1	13183768	13183768	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:13183768C>T	uc010obg.2	-	1	348	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	35						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TGGAAAAGATCGCCTCCACAT	0.473000														37			13		0	0	0.000308642	0	0
DNAH7	56171	broad.mit.edu	37	2	196640681	196640681	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196640681C>T	uc002utj.4	-	59	11192	c.11091G>A	c.(11089-11091)aaG>aaA	p.K3697K	DNAH7_uc002uti.4_Silent_p.K180K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3697					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTGGCAGAGTCTTTGTGTATT	0.403000														57			12		0	0	0.00185496	0	0
SCN11A	11280	broad.mit.edu	37	3	38913713	38913713	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38913713G>A	uc021wvy.1	-	19	3665	c.3466C>T	c.(3466-3468)Cgt>Tgt	p.R1156C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1156					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GACAGCGCACGAAGAGGCCTC	0.463000														110			30		0	0	0.00111076	0	0
NHLRC2	374354	broad.mit.edu	37	10	115664714	115664714	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:115664714C>T	uc001lax.2	+	9	2084	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	615					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		CCAGACTCTTCAGTTCAAACT	0.458000														55			12		0	0	0.00185496	0	0
SLC6A1	6529	broad.mit.edu	37	3	11076276	11076276	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:11076276C>T	uc010hdq.3	+	14	1998	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	529					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACTATGTTTTCCCCAAGTGGG	0.592000														55			18		0	0	0.00152264	0	0
GOLT1A	127845	broad.mit.edu	37	1	204172067	204172067	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:204172067C>T	uc001has.1	-	1	260	c.74G>A	c.(73-75)gGa>gAa	p.G25E	GOLT1A_uc001hat.1_Missense_Mutation_p.G25E	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	25					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CAGGAGTGTTCCAAAGAGGAT	0.562000														46			25		0	0	0.00106085	0	0
UBE2F	140739	broad.mit.edu	37	2	238940868	238940868	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:238940868C>T	uc002vxk.3	+	7	621	c.417C>T	c.(415-417)gtC>gtT	p.V139V	UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Silent_p.V107V|UBE2F_uc010znp.2_Intron|SCLY_uc002vxm.4_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.	139					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TTCAGGATGTCGTTTGGGGAT	0.338000														53			12		0	0	0.000219431	0	0
SCN11A	11280	broad.mit.edu	37	3	38968362	38968362	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38968362G>A	uc021wvy.1	-	3	748	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	183					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATCCAGAATGAAACCTCTTG	0.343000														97			29		0	0	0.00127121	0	0
HMGCR	3156	broad.mit.edu	37	5	74646750	74646750	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:74646750C>T	uc011cst.2	+	8	1229	c.977C>T	c.(976-978)tCc>tTc	p.S326F	HMGCR_uc003kdp.3_Missense_Mutation_p.S306F|HMGCR_uc003kdq.3_Missense_Mutation_p.S306F|HMGCR_uc010izn.1_Missense_Mutation_p.S107F	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	306					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAAGTGTTTCCCTCTGGCAG	0.348000														233			72		0	0	0.000781405	0	0
ASXL3	80816	broad.mit.edu	37	18	31324134	31324134	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:31324134C>T	uc010dmg.1	+	11	4377	c.4322C>T	c.(4321-4323)tCa>tTa	p.S1441L	ASXL3_uc002kxq.2_Missense_Mutation_p.S1148L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACAAAAATTCAGGGCCTCGA	0.468000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		97			40		0	0	0.00148497	0	0
LIPI	149998	broad.mit.edu	37	21	15538756	15538756	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:15538756C>T	uc002yjm.3	-	4	733	c.723G>A	c.(721-723)gaG>gaA	p.E241E	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Silent_p.E220E|LIPI_uc021whi.1_Silent_p.E55E|LIPI_uc021whj.1_Silent_p.E220E|LIPI_uc021whe.1_Silent_p.E220E|LIPI_uc021whf.1_Silent_p.E220E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	220					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTCCCAAGGGCTCTTGAATGC	0.353000														63			13		0	0	0.000219431	0	0
FRS3	10817	broad.mit.edu	37	6	41739062	41739062	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:41739062G>A	uc003orc.1	-	6	1018	c.774C>T	c.(772-774)ggC>ggT	p.G258G		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	258					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGACAGAGGCCCTGGCACT	0.612000														30			12		0	0	0.000978159	0	0
IGSF3	3321	broad.mit.edu	37	1	117122404	117122404	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:117122404G>T	uc001egq.1	-	10	3709	c.3004C>A	c.(3004-3006)Cag>Aag	p.Q1002K	IGSF3_uc001egr.1_Missense_Mutation_p.Q982K	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	982	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGGGAGTCCTGGCTGGAGCGG	0.602000														36			9		5.16669e-11	2.46127e-10	0.000978159	1	0
COL23A1	91522	broad.mit.edu	37	5	177686725	177686725	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:177686725C>T	uc021yiz.1	-	11	1084	c.726G>A	c.(724-726)aaG>aaA	p.K242K	COL23A1_uc021yiy.1_Silent_p.K18K|COL23A1_uc010jkt.2_Missense_Mutation_p.R90K	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	242	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CTCTCACCTTCTTTCCAGGTA	0.622000														107			30		0	0	0.000953801	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874796	15874796	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:15874796C>T	uc001aws.3	+	6	1016	c.896C>T	c.(895-897)tCa>tTa	p.S299L	DNAJC16_uc001awr.1_Missense_Mutation_p.S299L|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	299					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATTATTTATCATTTGGATAT	0.383000														41			21		0	0	0.00188189	0	0
MIB2	142678	broad.mit.edu	37	1	1563427	1563427	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:1563427C>T	uc001agg.3	+	13	2099	c.2054C>T	c.(2053-2055)tCc>tTc	p.S685F	MIB2_uc001agh.3_Missense_Mutation_p.S671F|MIB2_uc001agi.3_Missense_Mutation_p.S681F|MIB2_uc001agj.3_Missense_Mutation_p.S469F|MIB2_uc001agk.3_Missense_Mutation_p.S620F|MIB2_uc001agl.2_Missense_Mutation_p.S584F|MIB2_uc001agm.3_Missense_Mutation_p.S505F|MIB2_uc010nyq.2_Missense_Mutation_p.S584F|MIB2_uc009vkh.3_Missense_Mutation_p.S434F|MIB2_uc001agn.3_Missense_Mutation_p.S260F|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	628					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCCTGCACTCCGCCATCTCG	0.657000														36			18		0	0	0.000566183	0	0
TGM1	7051	broad.mit.edu	37	14	24728335	24728336	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24728335_24728336CC>TT	uc001wod.3	-	6	1228_1229	c.1104_1105GG>AA	c.(1102-1107)acggga>acAAga	p.G369R	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	369					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ACGGAATATCCCGTGCGTAGGT	0.609000														18			5		0	0	6.4e-05	0	0
RANBP17	64901	broad.mit.edu	37	5	170667947	170667947	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:170667947C>T	uc003mba.3	+	22	2580	c.2438C>T	c.(2437-2439)tCc>tTc	p.S813F	RANBP17_uc003mbb.3_Missense_Mutation_p.S138F|RANBP17_uc003mbd.3_Missense_Mutation_p.S176F|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	813					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGATCCTGTCCCTTGGGAGC	0.383000			T	TRD@	ALL									71			16		0	0	0.000958276	0	0
ACSL5	51703	broad.mit.edu	37	10	114158669	114158669	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:114158669G>A	uc001kzu.3	+	2	447	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	ACSL5_uc001kzs.3_Missense_Mutation_p.R56Q|ACSL5_uc001kzt.3_Missense_Mutation_p.R56Q|ACSL5_uc009xxz.3_Missense_Mutation_p.R56Q	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	56					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)		GGAGGAGCACGGAAGGGGGTT	0.443000														70			8		0	0	0.000442599	0	0
IL36A	27179	broad.mit.edu	37	2	113765525	113765525	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113765525C>T	uc010yxr.2	+	3	381	c.381C>T	c.(379-381)ttC>ttT	p.F127F		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	127					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CTGGCTGGTTCATCGCTGTCA	0.507000														46			27		0	0	0.00106085	0	0
PRR16	51334	broad.mit.edu	37	5	120021869	120021869	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:120021869C>T	uc003ksq.3	+	1	543	c.380C>T	c.(379-381)cCa>cTa	p.P127L	PRR16_uc003ksp.3_Missense_Mutation_p.P104L|PRR16_uc003ksr.3_Missense_Mutation_p.P57L	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	127	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCACCTCCTCCAAGGTTGACA	0.512000														37			13		0	0	0.000422831	0	0
TRPM4	54795	broad.mit.edu	37	19	49686156	49686156	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:49686156C>T	uc002pmw.3	+	10	1693	c.1585C>T	c.(1585-1587)Cca>Tca	p.P529S	TRPM4_uc010emu.3_Missense_Mutation_p.P529S|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Missense_Mutation_p.P355S|TRPM4_uc010emv.3_Missense_Mutation_p.P414S|TRPM4_uc010yal.2_Missense_Mutation_p.P175S|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	529					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGACCCTCACCCAGGCCAGGG	0.721000														15			10		0	0	0.000673444	0	0
SLC8A1	6546	broad.mit.edu	37	2	40392089	40392089	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:40392089C>T	uc002rrx.3	-	6	2098	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.E687K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E684K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E679K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E656K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E656K	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	692	Poly-Glu.		E -> V (in dbSNP:rs5557).		cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCTCTTCCTCTTTGCTGGTC	0.473000														79			26		0	0	0.00106085	0	0
TTC26	79989	broad.mit.edu	37	7	138872190	138872190	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:138872190C>T	uc003vus.2	+	16	1572	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	TTC26_uc011kqn.1_Intron|TTC26_uc011kqo.1_Silent_p.V455V|TTC26_uc011kqp.1_Silent_p.V381V|TTC26_uc003vut.2_Silent_p.V346V|TTC26_uc011kqq.1_Silent_p.V355V	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	486							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CTTTTGATGTCCTTGAGAGGC	0.448000														118			57		0	0	0.000781405	0	0
GPR98	84059	broad.mit.edu	37	5	90020657	90020657	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:90020657G>A	uc003kju.3	+	45	9853	c.9757G>A	c.(9757-9759)Gat>Aat	p.D3253N	GPR98_uc003kjt.3_Missense_Mutation_p.D959N|GPR98_uc003kjv.3_Missense_Mutation_p.D853N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3253					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGGGGAATGGATGTTGTGTT	0.294000														187			39		0	0	0.000781405	0	0
PRKDC	5591	broad.mit.edu	37	8	48701521	48701521	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:48701521G>A	uc003xqi.3	-	76	10902	c.10845C>T	c.(10843-10845)gcC>gcT	p.A3615A	PRKDC_uc003xqj.3_Silent_p.A3615A	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3616					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.A3615V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTCACCCAAGGCTGCATACA	0.438000								Non-homologous end-joining						59			16		0	0	0.000958276	0	0
EIF3L	51386	broad.mit.edu	37	22	38266249	38266249	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:38266249C>T	uc003auf.3	+	7	724	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	EIF3L_uc011ann.2_Missense_Mutation_p.R168C|EIF3L_uc003aug.3_Missense_Mutation_p.R108C	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	216						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGACTTTCTTCGTTCCAATCC	0.433000														59			25		0	0	0.000878237	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743089	13743089	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:13743089T>C	uc009voa.1	+	1	377	c.278T>C	c.(277-279)gTt>gCt	p.V93A		NM_001099852	NP_001093584	Q5VT98	PRA20_HUMAN	Homo sapiens PRAME family member 20 (PRAMEF20), mRNA.	93										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCACAGGGTTCGTCTCAGG	0.602000														12			22		0	0	0.00178596	0	0
TRHDE	29953	broad.mit.edu	37	12	73046870	73046870	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:73046870G>A	uc001sxa.3	+	16	2813	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	928					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.A927S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353000														25			17		0	0	0.000566183	0	0
HCLS1	3059	broad.mit.edu	37	3	121354611	121354611	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121354611G>A	uc003eeh.4	-	8	787	c.662C>T	c.(661-663)gCt>gTt	p.A221V	HCLS1_uc011bjj.2_Missense_Mutation_p.A184V|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	221					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTTCTTATAAGCTGTGGTCGG	0.542000														93			10		0	0	0.000978159	0	0
EML3	256364	broad.mit.edu	37	11	62375742	62375742	+	Silent	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:62375742C>A	uc010rly.1	-	9	1445	c.1137G>T	c.(1135-1137)gtG>gtT	p.V379V	EML3_uc001ntr.1_Silent_p.V351V|EML3_uc001nts.1_Silent_p.V351V|EML3_uc001ntt.1_Silent_p.V263V|EML3_uc001ntu.1_Silent_p.V379V|EML3_uc009yny.1_Silent_p.V162V			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	379						cytoplasm|microtubule	protein binding	p.V379V(2)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGGAATCATCCACCACACAAA	0.542000														222			10		6.40141e-05	0.000303617	0.000978159	1	0
MURC	347273	broad.mit.edu	37	9	103348428	103348428	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:103348428C>T	uc004bba.3	+	1	880	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	Homo sapiens muscle-related coiled-coil protein (MURC), mRNA.	264					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TAATGCAGCTCCCTCAAAGGA	0.517000														53			39		0	0	0.00148497	0	0
TTN	7273	broad.mit.edu	37	2	179590249	179590249	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179590249C>T	uc021vsy.1	-	67	17175	c.16950G>A	c.(16948-16950)gtG>gtA	p.V5650V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V2311V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6577	Ig-like 37.						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)			TTTCTCTAATCACTTCTTCCT	0.438000														53			15		0	0	0.000422831	0	0
PPIL3	53938	broad.mit.edu	37	2	201747152	201747152	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:201747152A>T	uc021vut.1	-	2	295	c.85T>A	c.(85-87)Ttg>Atg	p.L29M	PPIL3_uc002uwi.3_Intron|PPIL3_uc002uwh.3_Missense_Mutation_p.L29M|PPIL3_uc002uwj.3_Intron	NM_130906	NP_570981	Q9H2H8	PPIL3_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 3 (PPIL3), transcript variant PPIL3b, mRNA.	29	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						CAAAGAGCCAAGAAATTCTGA	0.358000														128			44		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179553445	179553445	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179553445G>A	uc021vsy.1	-	122	28649	c.28424C>T	c.(28423-28425)tCc>tTc	p.S9475F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S6136F|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10402							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)			AACTGCGAAGGATAGTTTTTC	0.373000														97			26		0	0	0.000878237	0	0
BCMO1	53630	broad.mit.edu	37	16	81303789	81303789	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:81303789G>A	uc002fgn.1	+	6	1087	c.869G>A	c.(868-870)aGg>aAg	p.R290K	BCMO1_uc010vnp.1_Missense_Mutation_p.R221K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	290					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						ATCGACCAAAGGACCAGGCAG	0.532000														79			48		0	0	0.000781405	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126217	121126217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121126217G>A	uc003eec.4	+	23	2927	c.2787G>A	c.(2785-2787)tgG>tgA	p.W929*	STXBP5L_uc011bji.2_Nonsense_Mutation_p.W905*	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	929					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.W929C(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAAATCTTGGAGAAGGAAAG	0.393000														21			5		0	0	0.000602214	0	0
CACNG2	10369	broad.mit.edu	37	22	36962500	36962500	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:36962500C>T	uc003aps.2	-	2	405	c.336G>A	c.(334-336)gtG>gtA	p.V112V		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	112					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AAAGCAGAATCACACTCAGGA	0.552000														57			23		0	0	0.00229938	0	0
NLRP9	338321	broad.mit.edu	37	19	56249498	56249498	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56249498C>T	uc002qly.3	-	0	271	c.243G>A	c.(241-243)agG>agA	p.R81R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	81	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGAGATCTTTCCTATTGATCT	0.493000														332			188		0	0	0.000781405	0	0
FMO1	2326	broad.mit.edu	37	1	171251278	171251278	+	Missense_Mutation	SNP	G	A	A	rs149030329	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:171251278G>A	uc009wvz.3	+	6	1125	c.989G>A	c.(988-990)gGa>gAa	p.G330E	FMO1_uc010pme.2_Missense_Mutation_p.G267E|FMO1_uc001ghl.3_Missense_Mutation_p.G330E|FMO1_uc001ghm.3_Missense_Mutation_p.G330E	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	330					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTGCCACTGGATACACATTT	0.413000														32			14		0	0	0.000958276	0	0
NCOA3	8202	broad.mit.edu	37	20	46256410	46256410	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:46256410C>T	uc002xtk.3	+	6	899	c.638C>T	c.(637-639)gCc>gTc	p.A213V	NCOA3_uc002xtl.3_Missense_Mutation_p.A213V|NCOA3_uc002xtn.3_Missense_Mutation_p.A213V|NCOA3_uc010ght.2_Missense_Mutation_p.A213V|NCOA3_uc002xtm.3_Missense_Mutation_p.A213V|NCOA3_uc010zyc.2_Missense_Mutation_p.A15V	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	213					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GACATAAACGCCAGTCCTGAA	0.433000														79			29		0	0	0.00127121	0	0
CSMD3	114788	broad.mit.edu	37	8	113317070	113317070	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:113317070C>T	uc003ynu.3	-	51	8305	c.8146G>A	c.(8146-8148)Gaa>Aaa	p.E2716K	CSMD3_uc003yns.3_Missense_Mutation_p.E1918K|CSMD3_uc003ynt.3_Missense_Mutation_p.E2676K|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2716	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTTTGTATTCATAATGGGAG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				41			8		0	0	0.000157383	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468235	61468235	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61468235G>A	uc002ljl.3	+	6	829	c.733G>A	c.(733-735)Gac>Aac	p.D245N	SERPINB7_uc002ljm.3_Missense_Mutation_p.D245N|SERPINB7_uc010xet.2_Missense_Mutation_p.D228N|SERPINB7_uc010dqg.3_Missense_Mutation_p.D245N	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	245					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCCTGAGAATGACCTCTCTGA	0.373000														50			18		0	0	0.00188189	0	0
NPAS4	266743	broad.mit.edu	37	11	66192547	66192547	+	Missense_Mutation	SNP	G	A	A	rs148679589		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:66192547G>A	uc001ohx.1	+	6	2362	c.2186G>A	c.(2185-2187)gGg>gAg	p.G729E	NPAS4_uc010rpc.1_Missense_Mutation_p.G519E	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	729					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGGGCTCAGGGGATCCTGAG	0.582000														39			18		0	0	0.00121646	0	0
TIAM1	7074	broad.mit.edu	37	21	32638597	32638597	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:32638597G>A	uc002yow.1	-	4	1164	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TIAM1_uc011adk.1_Missense_Mutation_p.S231F|TIAM1_uc011adl.1_Missense_Mutation_p.S231F|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	231					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTCACCCAAGGAATTGGCTCT	0.562000														70			16		0	0	0.000566183	0	0
IHH	3549	broad.mit.edu	37	2	219920036	219920036	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219920036G>A	uc002vjo.2	-	2	1178	c.1129C>T	c.(1129-1131)Ccg>Tcg	p.P377S		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	377					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCCCCGGAGTCCAGCTG	0.662000														16			9		0	0	0.000442599	0	0
SCN2A	6326	broad.mit.edu	37	2	166172255	166172255	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:166172255C>T	uc002udc.3	+	10	1948	c.1658C>T	c.(1657-1659)tCt>tTt	p.S553F	SCN2A_uc002udd.3_Missense_Mutation_p.S553F|SCN2A_uc002ude.3_Missense_Mutation_p.S553F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	553					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGAGATTTTCTTCTCCACAC	0.338000														111			24		0	0	0.001512	0	0
MMP7	4316	broad.mit.edu	37	11	102395720	102395720	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:102395720C>T	uc001phb.3	-	3	607	c.560G>A	c.(559-561)gGa>gAa	p.G187E	MMP7_uc009yxd.3_Missense_Mutation_p.G187E	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	187					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		AGCATCTCCTCCGAGACCTGT	0.502000														46			23		0	0	0.000375601	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207424	45207424	+	Silent	SNP	C	T	T	rs114645388	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:45207424C>T	uc010xxd.2	+	3	725	c.519C>T	c.(517-519)gtC>gtT	p.V173V		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	173										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCCTGCCCGTCGCTCTCCGCC	0.711000														36			25		0	0	0.00106085	0	0
PRSS1	5644	broad.mit.edu	37	7	142458471	142458471	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142458471C>T	uc003wak.2	+	1	123	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	36	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GAATTCTGTCCCCTACCAGGT	0.527000														106			7		0	0	0.00198382	0	0
ACCS	84680	broad.mit.edu	37	11	44104794	44104794	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:44104794T>C	uc009yks.1	+	12	1331	c.1187T>C	c.(1186-1188)cTt>cCt	p.L396P	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.L396P	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	396							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCAGAAGAGCTTAGGGCATTG	0.562000														67			9		0	0	0.000442599	0	0
NBPF7	343505	broad.mit.edu	37	1	120385153	120385153	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:120385153C>T	uc010oxk.2	-	1	862	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	81						cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		TTGCACTCCTCATACTCTGAG	0.542000														196			98		0	0	0.000781405	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559713	44559713	+	Missense_Mutation	SNP	C	T	T	rs143582553		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44559713C>T	uc002lcr.1	-	0	2276	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	641	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGAAACAGATCATCTTTGCCT	0.537000														171			19		0	0	0.000375601	0	0
CACNA1G	8913	broad.mit.edu	37	17	48669145	48669145	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:48669145G>A	uc002irk.1	+	11	3057	c.2685G>A	c.(2683-2685)cgG>cgA	p.R895R	CACNA1G_uc002iri.1_Silent_p.R895R|CACNA1G_uc002irj.1_Silent_p.R895R|CACNA1G_uc002irl.1_Silent_p.R895R|CACNA1G_uc002irm.1_Silent_p.R895R|CACNA1G_uc002irn.1_Silent_p.R895R|CACNA1G_uc002iro.1_Silent_p.R895R|CACNA1G_uc002irp.1_Silent_p.R895R|CACNA1G_uc002irq.1_Silent_p.R895R|CACNA1G_uc002irr.1_Silent_p.R895R|CACNA1G_uc002irs.1_Silent_p.R895R|CACNA1G_uc002irt.1_Silent_p.R895R|CACNA1G_uc002iru.1_Silent_p.R895R|CACNA1G_uc002irv.1_Silent_p.R895R|CACNA1G_uc002irw.1_Silent_p.R895R|CACNA1G_uc002irx.1_Silent_p.R808R|CACNA1G_uc002iry.1_Silent_p.R808R|CACNA1G_uc002isg.1_Silent_p.R808R|CACNA1G_uc002ish.1_Silent_p.R808R|CACNA1G_uc002isi.1_Silent_p.R808R|CACNA1G_uc002irz.1_Silent_p.R808R|CACNA1G_uc002isa.1_Silent_p.R808R|CACNA1G_uc002isd.1_Silent_p.R808R|CACNA1G_uc002isb.1_Silent_p.R808R|CACNA1G_uc002isc.1_Silent_p.R808R|CACNA1G_uc002ise.1_Silent_p.R808R|CACNA1G_uc002isf.1_Silent_p.R808R	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	895					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTCTGAGCGGGATGGGGACA	0.607000														42			15		0	0	0.000958276	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809019	48809019	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:48809019C>T	uc002rwp.2	+	1	1361	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.S416F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.S416F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.S416F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.S416F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	416					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGAAATTTCCTTGGAAATT	0.388000														96			13		0	0	0.00185496	0	0
TBXAS1	6916	broad.mit.edu	37	7	139717612	139717613	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:139717612_139717613CC>TT	uc011kqv.2	+	12	1882_1883	c.1647_1648CC>TT	c.(1645-1650)ttccaa>ttTTaa	p.Q550*	TBXAS1_uc003vvh.3_Nonsense_Mutation_p.Q504*|TBXAS1_uc010lne.3_Nonsense_Mutation_p.Q436*|TBXAS1_uc003vvi.3_Nonsense_Mutation_p.Q504*|TBXAS1_uc011kqw.2_Nonsense_Mutation_p.Q484*|TBXAS1_uc003vvj.3_Intron	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	503					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AGTTCCGGTTCCAAGCCTGCCC	0.683000														73			30		0	0	6.4e-05	0	0
OR2A14	135941	broad.mit.edu	37	7	143826417	143826417	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143826417C>T	uc011kua.2	+	0	212	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTTGACATATCCTATGCTTCC	0.453000														152			33		0	0	0.000692331	0	0
LBP	3929	broad.mit.edu	37	20	36993332	36993332	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:36993332G>A	uc002xic.1	+	7	882	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	283			D -> G (in dbSNP:rs2232607).		Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGCCATCTCGGATTATGTCTT	0.468000														146			72		0	0	0.000781405	0	0
BTBD11	121551	broad.mit.edu	37	12	108008871	108008871	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:108008871C>T	uc001tmk.1	+	6	2454	c.1933C>T	c.(1933-1935)Cac>Tac	p.H645Y	BTBD11_uc009zut.1_Missense_Mutation_p.H645Y|BTBD11_uc001tmj.3_Missense_Mutation_p.H645Y|BTBD11_uc001tml.1_Missense_Mutation_p.H182Y	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	645						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCATCCGTCCACCCCGAGAC	0.413000														43			31		0	0	0.000692331	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250624	18250624	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:18250624G>A	uc001ipo.2	+	2	649	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	SLC39A12_uc001ipn.2_Missense_Mutation_p.E126K|SLC39A12_uc001ipp.2_Missense_Mutation_p.E126K|SLC39A12_uc010qck.1_5'UTR	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	126					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TATTCATCAGGAAGAGATCTG	0.383000														68			15		0	0	0.00074312	0	0
C15orf24	56851	broad.mit.edu	37	15	34376605	34376605	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:34376605G>A	uc001zhm.3	-	4	672	c.659C>T	c.(658-660)tCa>tTa	p.S220L		NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	220						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		AGATGATTTTGAAGAGAAGAG	0.468000														81			13		0	0	0.000219431	0	0
GOLGA5	9950	broad.mit.edu	37	14	93301978	93301978	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:93301978C>T	uc001yaz.1	+	10	2202	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	GOLGA5_uc001yba.1_Missense_Mutation_p.R71C	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	674					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CGGAAAAGTTCGCAAAGCTGC	0.383000			T	RET	papillary thyroid									25			7		0	0	0.00198382	0	0
F3	2152	broad.mit.edu	37	1	95007189	95007189	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:95007189C>T	uc001dqr.3	-	0	225	c.4G>A	c.(4-6)Gag>Aag	p.E2K	F3_uc001dqp.2_5'Flank|F3_uc001dqq.2_5'Flank|F3_uc001dqs.3_Missense_Mutation_p.E2K|F3_uc001dqt.3_Non-coding_Transcript	NM_001993	NP_001984	P13726	TF_HUMAN	Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA.	2					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GCAGGGGTCTCCATGTCTACC	0.741000														20			11		0	0	0.000308642	0	0
C15orf2	23742	broad.mit.edu	37	15	24921521	24921521	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24921521C>T	uc001ywo.3	+	0	981	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	169					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGGTGCAGATCGAAGGGGAGG	0.612000														35			6		0	0	0.00198382	0	0
KIAA1467	57613	broad.mit.edu	37	12	13224237	13224237	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:13224237G>T	uc001rbi.3	+	9	1454	c.1431G>T	c.(1429-1431)atG>atT	p.M477I	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	477						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGTGTCACATGAAAGAAACGC	0.517000														55			29		3.80469e-20	1.81896e-19	0.00178596	1	0
TTN	7273	broad.mit.edu	37	2	179558413	179558413	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179558413G>A	uc021vsy.1	-	115	28010	c.27785C>T	c.(27784-27786)cCc>cTc	p.P9262L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5923L|TTN_uc010fre.1_Missense_Mutation_p.P373L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10189	Ig-like 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTACCTCGGGGACTTAAAA	0.313000														21			6		0	0	0.00198382	0	0
METTL1	4234	broad.mit.edu	37	12	58162854	58162854	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:58162854G>A	uc010ssd.2	-	5	804	c.756C>T	c.(754-756)ttC>ttT	p.F252F	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_3'UTR	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.	252						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			AGATGGCTGGGAAATTCTTCC	0.537000														43			18		0	0	0.000566183	0	0
PIWIL2	55124	broad.mit.edu	37	8	22146078	22146078	+	Silent	SNP	G	A	A	rs147665310		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:22146078G>A	uc003xbn.2	+	7	1033	c.885G>A	c.(883-885)agG>agA	p.R295R	PIWIL2_uc011kzf.1_Silent_p.R295R|PIWIL2_uc010ltv.2_Silent_p.R295R	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	295					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.R295R(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AAAGTCAAAGGAAAACAGACA	0.373000														49			13		0	0	0.000308642	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060851	48060851	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:48060851C>T	uc010bek.3	+	17	2199	c.1839C>T	c.(1837-1839)acC>acT	p.T613T	SEMA6D_uc001zvw.3_Intron|SEMA6D_uc001zvy.3_Silent_p.T613T|SEMA6D_uc001zvz.3_Intron|SEMA6D_uc001zwa.3_Intron|SEMA6D_uc001zwb.3_Intron|SEMA6D_uc001zwc.3_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	613					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGATTGATACCTGGAGACCTA	0.398000														42			5		0	0	0.000602214	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626765	5626765	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:5626765C>T	uc001mbf.3	+	3	1065	c.802C>T	c.(802-804)Cga>Tga	p.R268*	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Nonsense_Mutation_p.R214*|TRIM6-TRIM34_uc010qzj.2_Nonsense_Mutation_p.R65*|TRIM6-TRIM34_uc001mbc.2_Nonsense_Mutation_p.R240*|TRIM6-TRIM34_uc001mbe.3_Nonsense_Mutation_p.R65*|TRIM6-TRIM34_uc001mbd.3_Nonsense_Mutation_p.R268*|TRIM6-TRIM34_uc010qzk.2_Nonsense_Mutation_p.R65*|TRIM6-TRIM34_uc010qzl.2_Nonsense_Mutation_p.R65*|TRIM6-TRIM34_uc009yep.1_Nonsense_Mutation_p.R65*	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	268						intracellular	zinc ion binding	p.R267C(1)		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)		TCTGGAGCGTCGATGTCAGGG	0.507000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		22			11		0	0	0.000978159	0	0
KIAA1217	56243	broad.mit.edu	37	10	24817000	24817000	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:24817000G>A	uc001iru.4	+	13	3437	c.3034G>A	c.(3034-3036)Ggc>Agc	p.G1012S	KIAA1217_uc001irs.3_Missense_Mutation_p.G932S|KIAA1217_uc001irt.4_Missense_Mutation_p.G977S|KIAA1217_uc010qcy.2_Missense_Mutation_p.G977S|KIAA1217_uc010qcz.2_Missense_Mutation_p.G977S|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G695S|KIAA1217_uc001irz.3_Missense_Mutation_p.G695S|KIAA1217_uc001irx.3_Missense_Mutation_p.G695S|KIAA1217_uc001iry.3_Missense_Mutation_p.G695S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1012					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCAGCCACAGGCCCACTGCC	0.502000														76			21		0	0	0.00127121	0	0
NRXN2	9379	broad.mit.edu	37	11	64397988	64397988	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:64397988C>T	uc021qkw.1	-	18	4105	c.3643G>A	c.(3643-3645)Gag>Aag	p.E1215K	NRXN2_uc021qkx.1_Missense_Mutation_p.E1175K|NRXN2_uc001oas.3_Missense_Mutation_p.E1175K|NRXN2_uc001oap.3_Missense_Mutation_p.E169K|NRXN2_uc001oaq.3_Missense_Mutation_p.E882K	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1215	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCGTTGGGCTCGTCGATGGTA	0.627000														54			30		0	0	0.00209593	0	0
DCC	1630	broad.mit.edu	37	18	50918165	50918165	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:50918165G>A	uc002lfe.2	+	16	3212	c.2596G>A	c.(2596-2598)Gac>Aac	p.D866N	DCC_uc010xdr.1_Missense_Mutation_p.D694N|DCC_uc010dpf.2_Missense_Mutation_p.D501N	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	866	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGCTGGGCAGACAACTCTGT	0.537000														76			7		0	0	0.000157383	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243437849	243437849	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:243437849C>T	uc001hzw.3	+	3	480	c.311C>T	c.(310-312)tCa>tTa	p.S104L	SDCCAG8_uc010pyk.2_Intron|SDCCAG8_uc010pyl.2_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	104					G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TCATAGAGGTCATTAGAACAT	0.294000														108			13		0	0	0.00136819	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049378	36049378	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:36049378G>A	uc003jjz.2	-	3	588	c.456C>T	c.(454-456)ttC>ttT	p.F152F	UGT3A2_uc011cos.2_Silent_p.F118F|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	152						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAATCAGGAAAGGACAGT	0.408000														29			11		0	0	0.000673444	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508548	44508548	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:44508548C>T	uc002ruc.4	+	2	711	c.633C>T	c.(631-633)ttC>ttT	p.F211F	SLC3A1_uc002rty.3_Silent_p.F211F|SLC3A1_uc002rtz.2_Silent_p.F211F|SLC3A1_uc002rua.3_Silent_p.F211F|SLC3A1_uc002rub.2_Silent_p.F211F	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	211					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TCATCGATTTCATACCAAACC	0.353000														56			10		0	0	0.000673444	0	0
DSC1	1823	broad.mit.edu	37	18	28711568	28711568	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28711568G>A	uc002kwn.3	-	14	2738	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	DSC1_uc002kwm.3_Missense_Mutation_p.R826W|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	826					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCGCCAAGCCGAGGTTGGGTG	0.458000														51			6		0	0	0.00116845	0	0
EPRS	2058	broad.mit.edu	37	1	220197740	220197740	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:220197740G>A	uc001hly.1	-	7	1079	c.809C>T	c.(808-810)tCg>tTg	p.S270L	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.S21L|EPRS_uc001hlz.1_Missense_Mutation_p.S270L|EPRS_uc009xdt.1_Missense_Mutation_p.S71L	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	270	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AAAATGATCCGAAGTATAAGT	0.353000														41			20		0	0	0.00121646	0	0
STYK1	55359	broad.mit.edu	37	12	10775235	10775235	+	Splice_Site	SNP	A	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:10775235A>C	uc001qys.2	-	9	1488	c.967_splice	c.e9+1	p.G323_splice		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	323	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GCTCATCCTTACCTAGAGTCA	0.388000										HNSCC(73;0.22)				37			21		0	0	0.00047179	0	0
SH3RF2	153769	broad.mit.edu	37	5	145317495	145317495	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:145317495G>A	uc003lnt.3	+	1	242	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SH3RF2_uc011dbl.1_Missense_Mutation_p.D2N	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	2							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAATAAAATGGATGATTTGAC	0.522000														82			18		0	0	0.00229938	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131671	151131671	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:151131671G>A	uc021oyl.1	+	0	498	c.498G>A	c.(496-498)caG>caA	p.Q166Q	TNFAIP8L2_uc001ewx.2_Silent_p.Q166Q|SCNM1_uc021oyk.1_Intron	NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 2 (TNFAIP8L2), mRNA.	166					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTTCACTCAGCACCTTGGCA	0.562000														37			16		0	0	0.00152264	0	0
NDRG2	57447	broad.mit.edu	37	14	21488731	21488731	+	Missense_Mutation	SNP	G	A	A	rs144285486	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21488731G>A	uc001vyy.3	-	8	629	c.479C>T	c.(478-480)cCg>cTg	p.P160L	NDRG2_uc010tll.2_Missense_Mutation_p.P156L|NDRG2_uc001vyt.3_Missense_Mutation_p.P73L|NDRG2_uc001vyu.3_Intron|NDRG2_uc001vyv.3_Missense_Mutation_p.P146L|NDRG2_uc001vyw.3_Missense_Mutation_p.P146L|NDRG2_uc001vzb.3_Missense_Mutation_p.P100L|NDRG2_uc001vyx.3_Missense_Mutation_p.P160L|NDRG2_uc001vza.3_Missense_Mutation_p.P146L|NDRG2_uc001vyz.3_Missense_Mutation_p.P146L|NDRG2_uc001vzc.3_Missense_Mutation_p.P146L|NDRG2_uc010aig.3_Missense_Mutation_p.P160L|NDRG2_uc001vze.3_Missense_Mutation_p.P160L|NDRG2_uc001vzd.3_Missense_Mutation_p.P160L|NDRG2_uc001vzg.3_Missense_Mutation_p.P146L|NDRG2_uc001vzf.3_Missense_Mutation_p.P146L	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	160					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AACAGTGTCCGGGTGGTTAAG	0.562000														22			5		0	0	0.00198382	0	0
SI	6476	broad.mit.edu	37	3	164725726	164725726	+	Missense_Mutation	SNP	C	T	T	rs145734588	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164725726C>T	uc003fei.3	-	35	4303	c.4240G>A	c.(4240-4242)Gaa>Aaa	p.E1414K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1414	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E1414K(2)		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)	TAATTTAGTTCGTCATTTCTG	0.264000										HNSCC(35;0.089)				154			24		0	0	0.00178596	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598689	151598689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:151598689C>T	uc003ezf.2	+	2	463	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	120						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CAGCATAGATCGATACTTGAT	0.383000														37			17		0	0	0.000566183	0	0
ITGAD	3681	broad.mit.edu	37	16	31421715	31421715	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:31421715G>A	uc010cap.1	+	11	1133	c.1084_splice	c.e11-1	p.D362_splice	ITGAD_uc002ebv.1_Splice_Site_p.D362_splice	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	362					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTTCCTCCCAGGATGGCCTCT	0.577000														59			23		0	0	0.000586117	0	0
ABTB1	80325	broad.mit.edu	37	3	127396078	127396078	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:127396078C>T	uc003ejt.3	+	7	799	c.711C>T	c.(709-711)ctC>ctT	p.L237L	ABTB1_uc003ejr.3_Silent_p.L95L|ABTB1_uc003ejs.3_Silent_p.L212L|ABTB1_uc003eju.3_Silent_p.L95L|ABTB1_uc010hsm.3_5'UTR	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	237						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ACCCCCGCCTCCGGGAGGACA	0.667000														9			5		0	0	0.000602214	0	0
ACIN1	22985	broad.mit.edu	37	14	23549555	23549555	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23549555G>A	uc001wit.4	-	5	1491	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	ACIN1_uc001wis.4_Missense_Mutation_p.S70F|ACIN1_uc010akg.3_Missense_Mutation_p.S388F|ACIN1_uc010tnj.2_Missense_Mutation_p.S348F	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	388	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.S388S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCGAGGAGGGGAAGGAGACTT	0.473000														41			10		0	0	0.000978159	0	0
PTPRE	5791	broad.mit.edu	37	10	129871686	129871686	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:129871686G>A	uc009yat.3	+	17	2000	c.1583G>A	c.(1582-1584)tGg>tAg	p.W528*	PTPRE_uc001lkb.3_Nonsense_Mutation_p.W517*|PTPRE_uc009yau.2_Nonsense_Mutation_p.W517*|PTPRE_uc001lkd.3_Nonsense_Mutation_p.W459*|PTPRE_uc010quq.1_Nonsense_Mutation_p.W418*	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	517	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATCTGGGAATGGAAATCCCAC	0.602000														35			7		0	0	0.00198382	0	0
PIAS2	9063	broad.mit.edu	37	18	44424774	44424774	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44424774C>A	uc002lck.3	-	6	1077	c.890G>T	c.(889-891)cGg>cTg	p.R297L	PIAS2_uc010dnp.3_5'UTR|PIAS2_uc010xda.2_5'UTR|PIAS2_uc002lcl.3_Missense_Mutation_p.R297L|PIAS2_uc002lcm.3_Missense_Mutation_p.R297L|PIAS2_uc002lcn.1_Missense_Mutation_p.R301L	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	297	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding	p.R297G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TGTAAGCTGCCGTACAAGATA	0.303000														73			6		0.00198382	0.00929871	0.00198382	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20496630	20496630	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:20496630G>A	uc001ytf.1	+	5		c.683G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCATGAAGGGGAAGCCGAGGG	0.438000														98			8		0	0	0.000442599	0	0
CHD2	1106	broad.mit.edu	37	15	93515552	93515552	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:93515552C>T	uc002bsp.3	+	18	2985	c.2410C>T	c.(2410-2412)Cga>Tga	p.R804*	CHD2_uc002bso.1_Nonsense_Mutation_p.R804*|CHD2_uc010bog.1_Nonsense_Mutation_p.R49*|CHD2_uc010boh.1_Intron	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	804	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAAGACTTCGAGAAAGGGG	0.378000														53			15		0	0	0.000219431	0	0
CPS1	1373	broad.mit.edu	37	2	211447358	211447358	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:211447358G>A	uc010fur.3	+	6	646	c.564G>A	c.(562-564)aaG>aaA	p.K188K	CPS1_uc002vee.4_Silent_p.K182K	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.Q188K(1)|p.G187C(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGCTTGGGAAGATTGAATTTG	0.363000														69			20		0	0	0.00121646	0	0
abParts	0	broad.mit.edu	37	14	106329519	106329519	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106329519G>A	uc021ser.1	-	4392		c.63635_splice	c.e4392-1		DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_5'Flank|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|IGHE_uc001ysj.3_5'Flank|IGHE_uc001ysk.1_5'Flank|IGHE_uc001ysl.1_5'Flank|IGHE_uc001ysm.2_Intron|IGHE_uc001ysn.1_Intron|abParts_uc021set.1_5'Flank					Parts of antibodies, mostly variable regions.																		CAGCCACCCAGAGACCTTCTG	0.567000														27			5		0	0	0.000602214	0	0
GPR98	84059	broad.mit.edu	37	5	90052412	90052412	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:90052412G>A	uc003kju.3	+	55	11818	c.11722G>A	c.(11722-11724)Gat>Aat	p.D3908N	GPR98_uc003kjt.3_Missense_Mutation_p.D1614N|GPR98_uc003kjv.3_Missense_Mutation_p.D1508N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3908					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAATGACGATCCCAGAGG	0.443000														30			10		0	0	0.000978159	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977725	56977725	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:56977725G>A	uc001cyj.2	-	4	1301	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	245					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCTGATACGCGAGACAGTCCC	0.572000														58			20		0	0	0.00121646	0	0
NFXL1	152518	broad.mit.edu	37	4	47901422	47901422	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:47901422G>A	uc010igh.3	-	5	968	c.791C>T	c.(790-792)cCt>cTt	p.P264L	NFXL1_uc003gxp.3_Missense_Mutation_p.P264L|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.P264L	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	264						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P263L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ATGGCCACAAGGAGGTTTAAA	0.378000														41			16		0	0	0.00121646	0	0
FOXK2	3607	broad.mit.edu	37	17	80541952	80541952	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:80541952C>T	uc002kfn.3	+	5	1338	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	FOXK2_uc002kfm.1_Silent_p.T389T|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	389					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCGCCCAGACCCCTGAGAGCC	0.637000														19			13		0	0	0.000219431	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155778	173155778	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:173155778C>T	uc001giw.3	-	2	585	c.429G>A	c.(427-429)ctG>ctA	p.L143L	TNFSF4_uc001giv.3_Silent_p.L93L	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	143					T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CTTTGTAAGTCAGAGAGGCCA	0.463000														61			7		0	0	0.000274275	0	0
OR4D5	219875	broad.mit.edu	37	11	123810527	123810527	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123810527C>T	uc001pzk.1	+	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F68F(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATCTTTCTTTCCTGGACTTTT	0.463000														59			37		0	0	0.000953801	0	0
EIF2D	1939	broad.mit.edu	37	1	206767083	206767083	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:206767083G>A	uc001heh.2	-	13	1778	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	EIF2D_uc009xbw.2_Silent_p.I399I	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	523	SUI1.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTGCTGAAGGATGGCAGCCA	0.627000														29			11		0	0	0.000673444	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754887	6754887	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6754887G>A	uc002mft.3	-	4	1130	c.936C>T	c.(934-936)caC>caT	p.H312H	SH2D3A_uc010xjg.2_Silent_p.H190H	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	312					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCCAGGATGGTGCTCCAGGA	0.652000														118			45		0	0	0.000680045	0	0
PTCHD1	139411	broad.mit.edu	37	X	23412144	23412144	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:23412144C>T	uc004dal.4	+	2	2517	c.2509C>T	c.(2509-2511)Cac>Tac	p.H837Y		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	837					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CACCTTCTTTCACTGCTTTGC	0.418000														30			15		0	0	0.000422831	0	0
FAM55D	54827	broad.mit.edu	37	11	114441812	114441812	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:114441812G>A	uc001ppc.3	-	5	1664	c.1483C>T	c.(1483-1485)Caa>Taa	p.Q495*	FAM55D_uc001ppd.3_Nonsense_Mutation_p.Q211*	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	495						extracellular region		p.Q495L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		ATGAGATATTGAATGTAACCA	0.378000														43			26		0	0	0.0024448	0	0
PTPN12	5782	broad.mit.edu	37	7	77268027	77268027	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:77268027C>T	uc003ugh.2	+	16	2351	c.2260C>T	c.(2260-2262)Cca>Tca	p.P754S	PTPN12_uc011kgp.1_Missense_Mutation_p.P635S|PTPN12_uc011kgq.1_Missense_Mutation_p.P624S|PTPN12_uc010lds.2_Missense_Mutation_p.P486S	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	754						soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCAGAAAATCCAACAGAAGC	0.353000														122			44		0	0	0.000781405	0	0
CCR1	1230	broad.mit.edu	37	3	46245133	46245133	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:46245133C>T	uc003cph.1	-	1	743	c.672G>A	c.(670-672)aaG>aaA	p.K224K	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.K224K	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	224					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TTAGCAGAATCTTTATAATCC	0.418000														39			6		0	0	0.00198382	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208462	140208462	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140208462C>T	uc003lho.2	+	0	813	c.786C>T	c.(784-786)atC>atT	p.I262I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.I262I|PCDHAC2_uc011dab.2_Silent_p.I262I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	277	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I262I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGTTATCAGACTGAATG	0.413000														85			15		0	0	0.000219431	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993277	140993277	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:140993277G>A	uc004fbt.3	+	3	411	c.87G>A	c.(85-87)gaG>gaA	p.E29E	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	29							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGGGGAGGACTCCCAGT	0.572000										HNSCC(15;0.026)				17			14		0	0	0.000219431	0	0
FAM136A	84908	broad.mit.edu	37	2	70524451	70524451	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:70524451C>T	uc002sgq.4	-	2	464	c.387G>A	c.(385-387)atG>atA	p.M129I	FAM136A_uc010fdp.3_Non-coding_Transcript	NM_032822	NP_116211	Q96C01	F136A_HUMAN	Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.	129						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GAGCCTCCTTCATCTTCTTGG	0.438000														122			18		0	0	0.00229938	0	0
SCN5A	6331	broad.mit.edu	37	3	38627476	38627476	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38627476G>A	uc021wvo.1	-	14	2545	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	SCN5A_uc021wvk.1_Silent_p.I831I|SCN5A_uc021wvl.1_Silent_p.I831I|SCN5A_uc021wvm.1_Silent_p.I831I|SCN5A_uc021wvn.1_Silent_p.I831I|SCN5A_uc021wvp.1_Silent_p.I831I|SCN5A_uc021wvq.1_Silent_p.I831I|SCN5A_uc021wvr.1_Silent_p.I831I|SCN5A_uc021wvs.1_Silent_p.I831I|SCN5A_uc021wvt.1_Silent_p.I831I|SCN5A_uc021wvu.1_Silent_p.I831I|SCN5A_uc021wvv.1_Silent_p.I831I|SCN5A_uc021wvj.1_Silent_p.I697I|SCN5A_uc021wvi.1_Silent_p.I697I|SCN5A_uc021wvw.1_Silent_p.I442I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	831					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGTTCCCGATGATCTTGATGA	0.567000														35			11		0	0	0.000219431	0	0
CALCR	799	broad.mit.edu	37	7	93065362	93065362	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:93065362G>A	uc003umv.2	-	13	1453	c.1153C>T	c.(1153-1155)Ctg>Ttg	p.L385L	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.L351L|CALCR_uc003umw.2_Silent_p.L351L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	367					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.G384D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATTCCCAGCAGGGGCACAAGG	0.498000														44			11		0	0	0.000673444	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758579	121758579	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:121758579G>A	uc003ksw.1	+	3	353	c.147G>A	c.(145-147)tgG>tgA	p.W49*	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Nonsense_Mutation_p.W49*|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.W96*|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.W49*	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	49					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.W96*(2)|p.W49*(2)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GCTCTAGCTGGAATTGTGGCA	0.413000														39			7		0	0	0.000274275	0	0
STRN4	29888	broad.mit.edu	37	19	47225256	47225256	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:47225256G>A	uc002pfm.3	-	15	2133	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	STRN4_uc002pfl.3_Silent_p.F693F|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	693						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTGACATCAGGAATGCGCCGT	0.632000														52			41		0	0	0.000781405	0	0
DCC	1630	broad.mit.edu	37	18	51025846	51025846	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:51025846G>A	uc002lfe.2	+	26	4693	c.4077G>A	c.(4075-4077)ccG>ccA	p.P1359P	DCC_uc010dpf.2_Silent_p.P992P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1359					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAATAGAACCGAAAGTCCCTT	0.448000														68			16		0	0	0.00152264	0	0
CSF3R	1441	broad.mit.edu	37	1	36937222	36937222	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:36937222C>T	uc001caw.2	-	9	1681	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	CSF3R_uc001cav.2_Missense_Mutation_p.G366E|CSF3R_uc001cax.2_Missense_Mutation_p.G366E	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	366	Fibronectin type-III 3.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGGATCCGTCCGCTGTCTTC	0.597000														123			40		0	0	0.00222228	0	0
TBL1X	6907	broad.mit.edu	37	X	9659683	9659683	+	Silent	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:9659683C>A	uc004csr.3	+	7	1168	c.681C>A	c.(679-681)gtC>gtA	p.V227V	TBL1X_uc004csq.4_Silent_p.V176V|TBL1X_uc010ndr.3_Silent_p.V176V|TBL1X_uc010ndq.3_Silent_p.V227V|TBL1X_uc004css.3_Silent_p.V178V	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	227					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AAGCCACAGTCCTTCGGGGCC	0.522000														28			17		9.7654e-05	0.000462804	0.000958276	1	0
CSPG4	1464	broad.mit.edu	37	15	75977176	75977176	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:75977176G>A	uc002baw.3	-	4	4443	c.4350C>T	c.(4348-4350)gcC>gcT	p.A1450A		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1450	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCATCTCGGAGGCATTAGCCA	0.592000														61			13		0	0	0.000219431	0	0
GRM2	2912	broad.mit.edu	37	3	51747141	51747141	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51747141G>T	uc010hlv.3	+	2	1342	c.1103G>T	c.(1102-1104)cGg>cTg	p.R368L	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	368					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CACTCTCTCCGGGCTGTGCCC	0.612000														33			5		0.000602214	0.0028439	0.000602214	1	0
ASTN2	23245	broad.mit.edu	37	9	119770441	119770441	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:119770441G>A	uc004bjt.2	-	5	1469	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	ASTN2_uc022bml.1_Silent_p.S156S|ASTN2_uc022bmm.1_Silent_p.S156S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	507						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCACCCATGGGGAGGTGGCAT	0.572000														28			22		0	0	0.001512	0	0
C3	718	broad.mit.edu	37	19	6684620	6684620	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6684620G>A	uc002mfm.3	-	31	4133	c.4071C>T	c.(4069-4071)acC>acT	p.T1357T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1357					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical 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)		ATTTATTACAGGTGAGTTGAT	0.483000														162			37		0	0	0.000781405	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354776	45354776	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:45354776C>T	uc002xsl.3	+	1	1198	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	367						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGAGCCAATCTTGTCCACTG	0.627000														52			19		0	0	0.00121646	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526903	234526903	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:234526903C>T	uc002vup.3	+	0	613	c.550C>T	c.(550-552)Cct>Tct	p.P184S	UGT1A1_uc010zmv.1_Missense_Mutation_p.P184S	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	187					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGCACAGTGCCCTGCTCCTCT	0.493000														101			47		0	0	0.000781405	0	0
XAB2	56949	broad.mit.edu	37	19	7684837	7684837	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:7684837G>A	uc002mgx.3	-	16	2417	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	797					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCACCTCACGAACAGGATCT	0.667000								Direct reversal of damage;Nucleotide excision repair (NER)						69			28		0	0	0.000692331	0	0
CDH13	1012	broad.mit.edu	37	16	83520204	83520204	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:83520204G>A	uc010vns.2	+	7	1309	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	CDH13_uc002fgx.3_Missense_Mutation_p.D302N|CDH13_uc010vnt.2_Missense_Mutation_p.D48N|CDH13_uc010vnu.2_Missense_Mutation_p.D263N	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	302	Cadherin 2.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.D302N(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTTCTACATCGATCCTGAGAA	0.488000														29			24		0	0	0.00178596	0	0
MYLK2	85366	broad.mit.edu	37	20	30411356	30411356	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:30411356C>T	uc002wwq.2	+	4	951	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	283					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGTGAATTCAGTATGAACT	0.612000											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			36		0	0	0.000814825	0	0
TSIX	9383	broad.mit.edu	37	X	73041824	73041824	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:73041824G>A	uc004ebn.2	+	0		c.29785G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CGTTATCTGAGGATTGTTTCT	0.333000														12			6		0	0	0.00198382	0	0
C15orf2	23742	broad.mit.edu	37	15	24922957	24922957	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24922957A>G	uc001ywo.3	+	0	2417	c.1943A>G	c.(1942-1944)aAa>aGa	p.K648R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	648					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCAGCCCAAATTTGAGGCT	0.493000														89			16		0	0	0.00074312	0	0
KIAA1109	84162	broad.mit.edu	37	4	123141522	123141522	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:123141522C>T	uc003ieh.3	+	19	2555	c.2510C>T	c.(2509-2511)gCt>gTt	p.A837V	KIAA1109_uc003iei.1_Missense_Mutation_p.A591V|KIAA1109_uc010ins.1_Missense_Mutation_p.A181V|KIAA1109_uc003iej.1_Missense_Mutation_p.A222V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	837					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCCCTACAGCTTTCTTGGAA	0.383000														47			8		0	0	0.000442599	0	0
LCK	3932	broad.mit.edu	37	1	32745728	32745728	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:32745728G>A	uc001bux.3	+	11	1382	c.1244G>A	c.(1243-1245)gGg>gAg	p.G415E	LCK_uc001buy.3_Missense_Mutation_p.G415E|LCK_uc001buz.3_Missense_Mutation_p.G445E|LCK_uc010ohc.1_Missense_Mutation_p.G459E|LCK_uc001bva.3_Missense_Mutation_p.G422E	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	415	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ATTAACTACGGGACATTCACC	0.557000			T	TRB@	T-ALL									38			21		0	0	0.00229938	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176933	140176933	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140176933G>T	uc003lhd.2	+	0	2490	c.2384G>T	c.(2383-2385)gGa>gTa	p.G795V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.G795V|PCDHAC2_uc011czy.2_Missense_Mutation_p.G795V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	854					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATACGTAGGAAAGGTGAGT	0.388000														36			6		2.7689e-08	1.31693e-07	0.00198382	1	0
SULT1A2	6799	broad.mit.edu	37	16	28606886	28606886	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:28606886G>A	uc002dqg.2	-	2	610	c.259C>T	c.(259-261)Cca>Tca	p.P87S	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Missense_Mutation_p.P87S	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	87					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GGAATCCCTGGGACTTTGAAC	0.587000														36			17		0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9076674	9076674	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9076674G>A	uc002mkp.3	-	2	10976	c.10772C>T	c.(10771-10773)tCc>tTc	p.S3591F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3592	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3591Y(3)|p.D3590Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGTCCAGGAATCTGATGC	0.483000														73			32		0	0	0.000491102	0	0
TTN	7273	broad.mit.edu	37	2	179427823	179427823	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179427823G>A	uc021vsy.1	-	274	75557	c.75332C>T	c.(75331-75333)gCt>gTt	p.A25111V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A18806V|TTN_uc021vta.1_Missense_Mutation_p.A18739V|TTN_uc021vtb.1_Missense_Mutation_p.A18614V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26038	Fibronectin type-III 82.						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)			TCTGAGATCAGCATCGAGTTC	0.468000														120			31		0	0	0.00209593	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891059	2891059	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:2891059G>A	uc002kln.3	+	3	1093	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	312					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.E312K(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GACAACCAACGAACTCTACCA	0.547000														125			18		0	0	0.00188189	0	0
OR10R2	343406	broad.mit.edu	37	1	158449913	158449913	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158449913C>T	uc010pik.2	+	0	246	c.246C>T	c.(244-246)ttC>ttT	p.F82F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F82F(2)|p.F81F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGTACTTCTTCCTTGGCATTC	0.413000														101			22		0	0	0.00047179	0	0
STK19	8859	broad.mit.edu	37	6	31948456	31948456	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:31948456C>T	uc003nyv.3	+	6	1067	c.939C>T	c.(937-939)gtC>gtT	p.V313V	STK19_uc003nyt.3_Silent_p.V266V|STK19_uc011dox.1_Silent_p.V270V|STK19_uc003nyw.3_Silent_p.V309V|STK19_uc010jtn.1_Non-coding_Transcript|C4B_uc011doy.2_5'Flank|C4B_uc011doz.2_5'Flank|C4B_uc011dpa.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	313						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						TTAGCATGGTCCGGAAGGCAA	0.612000														43			29		0	0	0.00058488	0	0
ABCG2	9429	broad.mit.edu	37	4	89039317	89039317	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:89039317C>T	uc003hrg.3	-	6	1278	c.785G>A	c.(784-786)gGa>gAa	p.G262E	ABCG2_uc003hrh.3_Missense_Mutation_p.G262E|ABCG2_uc003hrf.3_Missense_Mutation_p.G132E	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	262	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CATAAGTCTTCCTGAGGCCAA	0.428000														25			6		0	0	0.00198382	0	0
KLHL30	377007	broad.mit.edu	37	2	239049740	239049740	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:239049740C>T	uc002vxr.2	+	1	452	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	115										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCCTGCACTTCCCCTCGGTGC	0.662000														54			25		0	0	0.00047179	0	0
DGKE	8526	broad.mit.edu	37	17	54939525	54939525	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:54939525C>T	uc002iur.3	+	10	1617	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	DGKE_uc002ius.1_Silent_p.V479V	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	479					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TGCTGGAAGTCGTTGGAGTAT	0.368000														54			15		0	0	0.000566183	0	0
FBN3	84467	broad.mit.edu	37	19	8193952	8193953	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8193952_8193953GG>AA	uc002mjf.3	-	16	2272_2273	c.2255_2256CC>TT	c.(2254-2256)ccc>cTT	p.P752L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	752	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAAGCCGGGGGGGCAGGAGCA	0.604000														77			22		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9062015	9062015	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9062015C>T	uc002mkp.3	-	2	25635	c.25431G>A	c.(25429-25431)gcG>gcA	p.A8477A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8479	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGTGATCGCTTCAGTAG	0.498000														111			40		0	0	0.000781405	0	0
CYP4A22	284541	broad.mit.edu	37	1	47607897	47607897	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47607897G>A	uc001cqv.1	+	3	551	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	CYP4A22_uc009vyo.3_Missense_Mutation_p.R167Q|CYP4A22_uc009vyp.3_Missense_Mutation_p.R167Q	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	167						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACTCTGTACGAGTGATGCTG	0.567000														43			18		0	0	0.00074312	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466008	160466008	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:160466008G>A	uc001fwe.2	-	1	295	c.225C>T	c.(223-225)atC>atT	p.I75I	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Silent_p.I75I|SLAMF6_uc010pjh.2_Silent_p.I26I|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Silent_p.I26I	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	75						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TAGTCACGTGGATTTCTGGAC	0.468000														59			23		0	0	0.00229938	0	0
UNC45B	146862	broad.mit.edu	37	17	33481754	33481754	+	Silent	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:33481754A>G	uc002hja.3	+	5	730	c.633A>G	c.(631-633)caA>caG	p.Q211Q	UNC45B_uc002hjb.3_Silent_p.Q211Q|UNC45B_uc002hjc.3_Silent_p.Q211Q|UNC45B_uc010cto.3_Silent_p.Q211Q	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	211					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCGGCCACCAAGCCAGAGTAA	0.612000														20			11		0	0	0.00185496	0	0
FGF7	2252	broad.mit.edu	37	15	49776615	49776615	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:49776615T>C	uc001zxn.3	+	3	1028	c.499T>C	c.(499-501)Tta>Cta	p.L167L	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	167					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GTTTGTTGCCTTAAATCAAAA	0.353000														19			7		0	0	0.00198382	0	0
OBSCN	84033	broad.mit.edu	37	1	228509535	228509535	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:228509535C>T	uc009xez.1	+	54	15037	c.14993C>T	c.(14992-14994)tCc>tTc	p.S4998F	OBSCN_uc001hsn.3_Missense_Mutation_p.S4998F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4998					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.A4998V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCGAGAGCTCCTCTGGGGGT	0.617000														125			13		0	0	0.000566183	0	0
ZNF16	7564	broad.mit.edu	37	8	146157523	146157523	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:146157523G>A	uc003zet.3	-	3	837	c.650C>T	c.(649-651)aCc>aTc	p.T217I	ZNF16_uc003zeu.3_Missense_Mutation_p.T217I	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCTTGGAAGGTTTTCCCACA	0.488000														85			12		0	0	0.00136819	0	0
OR6C2	341416	broad.mit.edu	37	12	55846846	55846846	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:55846846G>A	uc001sgz.1	+	0	849	c.849G>A	c.(847-849)ttG>ttA	p.L283L		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CACCCTTGTTGAACCCCTTCA	0.408000														25			12		0	0	0.000978159	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98386522	98386522	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:98386522C>T	uc001kmq.3	-	9	1740	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	PIK3AP1_uc001kmo.3_Missense_Mutation_p.E137K|PIK3AP1_uc001kmp.3_Missense_Mutation_p.E360K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	538						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCAGTGGTCTCTGGTCTGGGC	0.537000														34			8		0	0	0.000978159	0	0
IQCA1	79781	broad.mit.edu	37	2	237300918	237300918	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:237300918C>T	uc002vwb.2	-	9	1341	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	IQCA1_uc002vvz.1_Missense_Mutation_p.R429Q|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.R388Q	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	429	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TAATTCTTTTCGTTTCTCCTC	0.368000														19			6		0	0	0.00198382	0	0
SLC35D2	11046	broad.mit.edu	37	9	99107656	99107656	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:99107656G>A	uc004awc.3	-	6	592	c.516C>T	c.(514-516)ggC>ggT	p.G172G	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Intron	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	172						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				CAAAAATATAGCCTTCTAAGT	0.428000														33			17		0	0	0.000958276	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156955917	156955917	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156955917G>A	uc001fqo.3	-	1	1121	c.81C>T	c.(79-81)tcC>tcT	p.S27S	ARHGEF11_uc001fqn.3_Silent_p.S27S	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	27					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTGGGAAGGGGACTTGCGCT	0.537000														101			28		0	0	0.00209593	0	0
RIF1	55183	broad.mit.edu	37	2	152321487	152321487	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152321487C>T	uc002txm.3	+	29	5614	c.5453C>T	c.(5452-5454)tCa>tTa	p.S1818L	RIF1_uc002txn.3_Missense_Mutation_p.S1818L|RIF1_uc002txl.3_Missense_Mutation_p.S1818L|RIF1_uc002txo.3_Missense_Mutation_p.S1818L|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1818					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GAAACCAAATCAAAAGAAAAC	0.313000														89			37		0	0	0.000953801	0	0
SCN11A	11280	broad.mit.edu	37	3	38888697	38888697	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38888697C>T	uc021wvy.1	-	25	5063	c.4864G>A	c.(4864-4866)Gac>Aac	p.D1622N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1622					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTCAAAGTCATCTTCACCC	0.388000														92			27		0	0	0.0024448	0	0
GMCL1P1	64396	broad.mit.edu	37	5	177612955	177612955	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:177612955C>T	uc003mit.1	-	0	1479	c.1346G>A	c.(1345-1347)cGa>cAa	p.R449Q						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		TATGCTCCTTCGAGGCCGTAA	0.393000														32			11		0	0	0.000673444	0	0
ROBO1	6091	broad.mit.edu	37	3	78710286	78710286	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:78710286G>A	uc003dqe.2	-	15	2422	c.2214C>T	c.(2212-2214)atC>atT	p.I738I	ROBO1_uc003dqc.2_Silent_p.I702I|ROBO1_uc003dqd.2_Silent_p.I702I|ROBO1_uc003dqb.2_Silent_p.I699I|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Silent_p.I310I|ROBO1_uc003dqf.1_Silent_p.I417I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	738	Fibronectin type-III 2.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGAGATCAGGGATTACCACAC	0.423000														32			16		0	0	0.000566183	0	0
TRA@	6955	broad.mit.edu	37	14	22111697	22111697	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:22111697G>A	uc001wbk.3	+	1	301	c.268G>A	c.(268-270)Gag>Aag	p.E90K						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114.																		TGGTTTGGAGGAGAAAGGTCG	0.483000			T	"""ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6"""	T-ALL									191			26		0	0	0.00209593	0	0
C3	718	broad.mit.edu	37	19	6713445	6713445	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6713445G>A	uc002mfm.3	-	7	911	c.849C>T	c.(847-849)tcC>tcT	p.S283S		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	283					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.S283F(1)		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)		ATTCAGGCAGGGAAATCCTCT	0.597000														52			18		0	0	0.00074312	0	0
IL1R1	3554	broad.mit.edu	37	2	102781284	102781284	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:102781284G>A	uc002tbq.3	+	3	430	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	IL1R1_uc010fix.3_Missense_Mutation_p.E38K|IL1R1_uc002tbr.3_Missense_Mutation_p.E38K	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	38	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATCTGCAAATGAAATTGATGT	0.363000														41			20		0	0	0.00188189	0	0
DNAH7	56171	broad.mit.edu	37	2	196651884	196651884	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196651884C>T	uc002utj.4	-	57	10829	c.10728G>A	c.(10726-10728)aaG>aaA	p.K3576K	DNAH7_uc002uti.4_Silent_p.K59K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3576	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K3576N(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGCAATTTCTTGAATTCCT	0.338000														79			18		0	0	0.00229938	0	0
HRNR	388697	broad.mit.edu	37	1	152193617	152193617	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152193617C>T	uc001ezt.1	-	2	564	c.488G>A	c.(487-489)aGa>aAa	p.R163K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	163					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAAAAGTCTCTTTGAAAACT	0.478000														61			30		0	0	0.00127121	0	0
LRRC61	65999	broad.mit.edu	37	7	150034029	150034029	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150034029G>A	uc003wgz.4	+	0	79	c.79G>A	c.(79-81)Gag>Aag	p.E27K	LRRC61_uc003wgv.3_Missense_Mutation_p.E27K|LRRC61_uc003wgx.3_Missense_Mutation_p.E27K|LRRC61_uc003wgw.3_Missense_Mutation_p.E27K	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	27										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACGCACAGGCGAGTTCTCCCT	0.637000														66			32		0	0	0.00178596	0	0
GBP5	115362	broad.mit.edu	37	1	89730507	89730507	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:89730507C>T	uc001dnc.3	-	7	1548	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	GBP5_uc001dnd.3_Missense_Mutation_p.M337I|GBP5_uc001dne.1_Missense_Mutation_p.M337I	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	337						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTTTCTGGCCCATTTGCTGGT	0.542000														60			23		0	0	0.00047179	0	0
NRP1	8829	broad.mit.edu	37	10	33474637	33474637	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:33474637C>T	uc001iwx.4	-	14	2873	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	NRP1_uc001iwv.4_Missense_Mutation_p.E784K|NRP1_uc001iwy.4_Missense_Mutation_p.E777K|NRP1_uc009xlz.3_Missense_Mutation_p.E778K|NRP1_uc001iww.4_Missense_Mutation_p.E596K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	784	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	p.G783G(1)|p.G783C(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTTCCGATTTCGCCCTCGAAA	0.393000														35			16		0	0	0.00074312	0	0
LRRC32	2615	broad.mit.edu	37	11	76370928	76370928	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:76370928C>T	uc001oxq.4	-	2	1952	c.1709G>A	c.(1708-1710)gGg>gAg	p.G570E	LRRC32_uc001oxr.4_Missense_Mutation_p.G570E|LRRC32_uc010rsf.2_Missense_Mutation_p.G556E	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	570						integral to plasma membrane		p.Q569Q(1)|p.Q569E(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGTGGATTCCCCTGCAGGTA	0.662000														26			12		0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179546108	179546108	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179546108G>A	uc021vsy.1	-	133	29735	c.29510C>T	c.(29509-29511)cCc>cTc	p.P9837L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6498L|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10764	Ig-like 79.						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)			TGTACCTTTGGGTGGTGGAGG	0.368000														36			8		0	0	0.000274275	0	0
ODZ4	26011	broad.mit.edu	37	11	78372622	78372622	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:78372622G>A	uc001ozl.4	-	32	7886	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	ODZ4_uc001ozk.4_Silent_p.L700L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2475					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AAGGTGAGCAGCCAGCTGTTA	0.512000														15			10		0	0	0.000978159	0	0
DPPA4	55211	broad.mit.edu	37	3	109050829	109050829	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:109050829C>T	uc003dxq.4	-	2	283	c.228G>A	c.(226-228)caG>caA	p.Q76Q	DPPA4_uc011bho.2_Silent_p.Q76Q|DPPA4_uc011bhp.1_Silent_p.Q76Q	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	76						nucleus	protein binding	p.Q76Q(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTATCTTCTTCTGAGGTCTGG	0.458000														108			25		0	0	0.000586117	0	0
RASL11A	387496	broad.mit.edu	37	13	27847274	27847274	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:27847274C>T	uc001urd.1	+	3	990	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Homo sapiens RAS-like, family 11, member A (RASL11A), mRNA.	124	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		ACTTGTCCATCCGACCCCTTT	0.572000														46			8		0	0	0.000157383	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532416	40532416	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:40532416C>T	uc003xnr.3	-	4	530	c.384G>A	c.(382-384)atG>atA	p.M128I	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	128						nucleus	DNA binding|zinc ion binding	p.R127W(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GAGCAGTGTCCATCCGTGGGG	0.532000														73			26		0	0	0.00127121	0	0
PRR12	57479	broad.mit.edu	37	19	50100028	50100028	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:50100028C>T	uc002poo.4	+	3	2436	c.2436C>T	c.(2434-2436)ccC>ccT	p.P812P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	503							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)		CCCCCAGTCCCTCTCCCAGCG	0.726000														21			13		0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179581857	179581857	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179581857C>T	uc021vsy.1	-	84	22097	c.21872G>A	c.(21871-21873)gGa>gAa	p.G7291E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3952E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8218	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A7291A(1)		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)			AGAGTCTTTTCCAGCGATGTT	0.433000														36			12		0	0	0.000219431	0	0
MUC17	140453	broad.mit.edu	37	7	100685010	100685010	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100685010C>T	uc003uxp.1	+	2	10366	c.10313C>T	c.(10312-10314)tCa>tTa	p.S3438L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3438	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTACA	0.517000														122			32		0	0	0.000692331	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421260	39421260	+	Silent	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:39421260C>G	uc003awt.4	+	2	803	c.396C>G	c.(394-396)gcC>gcG	p.A132A	APOBEC3D_uc021wpq.1_Silent_p.A132A|APOBEC3D_uc010gxu.3_Intron|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	132					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CCATCTCTGCCGCCCGCCTCT	0.562000														70			25		0	0	0.000586117	0	0
ROCK2	9475	broad.mit.edu	37	2	11347856	11347856	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:11347856G>A	uc002rbd.1	-	19	2994	c.2545C>T	c.(2545-2547)Cga>Tga	p.R849*		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	849					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTTACTTTCGAAGTTCAGCA	0.284000														40			7		0	0	0.00198382	0	0
TTC39A	22996	broad.mit.edu	37	1	51754542	51754542	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:51754542C>T	uc001csl.3	-	16	1792	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	TTC39A_uc001csk.3_Missense_Mutation_p.E528K|TTC39A_uc010ond.2_Missense_Mutation_p.E500K|TTC39A_uc010one.2_Missense_Mutation_p.E527K|TTC39A_uc010onf.2_Missense_Mutation_p.E531K|TTC39A_uc001csj.3_Missense_Mutation_p.E164K	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	563							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						ATGGCCTCTTCGTTTCTGTCT	0.502000														24			8		0	0	0.000274275	0	0
MYH4	4622	broad.mit.edu	37	17	10357202	10357202	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10357202C>T	uc002gmn.3	-	23	2803	c.2692_splice	c.e23-1	p.E898_splice	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	898					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATCTGCTTCCTAAAGGGAG	0.368000														85			59		0	0	0.000781405	0	0
CD209	30835	broad.mit.edu	37	19	7810924	7810924	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:7810924C>T	uc002mht.2	-	3	295	c.228G>A	c.(226-228)gcG>gcA	p.A76A	CD209_uc010xju.1_Silent_p.A76A|CD209_uc010dvp.2_Silent_p.A52A|CD209_uc002mhr.2_Silent_p.A52A|CD209_uc002mhs.2_Silent_p.A52A|CD209_uc002mhu.2_Silent_p.A76A|CD209_uc010dvq.2_Silent_p.A76A|CD209_uc002mhq.2_Silent_p.A76A|CD209_uc002mhv.2_Silent_p.A52A|CD209_uc002mhx.2_Silent_p.A32A|CD209_uc002mhw.2_Silent_p.A32A|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	76					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTGGTAGATCGCGTCTTGCC	0.512000														141			46		0	0	0.000781405	0	0
ACTG2	72	broad.mit.edu	37	2	74136191	74136191	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:74136191G>A	uc002sjw.3	+	4	498	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	ACTG2_uc010yrn.2_Missense_Mutation_p.E83K|ACTG2_uc010fey.3_Missense_Mutation_p.E126K	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	126					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GATCATGTTTGAAACCTTCAA	0.438000														81			36		0	0	0.00222228	0	0
LRP1B	53353	broad.mit.edu	37	2	141115608	141115608	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:141115608G>A	uc002tvj.1	-	73	12307	c.11335C>T	c.(11335-11337)Ctc>Ttc	p.L3779F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3779	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACACTGGAGATCCATAGGG	0.403000										TSP Lung(27;0.18)				29			20		0	0	0.00188189	0	0
CSF2RB	1439	broad.mit.edu	37	22	37322095	37322095	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:37322095C>T	uc003aqa.4	+	3	484	c.267C>T	c.(265-267)ccC>ccT	p.P89P	CSF2RB_uc003aqc.4_Silent_p.P89P	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	89					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCCCATCCCCGCTGCGTGC	0.607000														43			19		0	0	0.00152264	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19744528	19744528	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:19744528C>T	uc002ykw.3	-	5	677	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	216	LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTATTGTCTTCGTCAGAACCA	0.443000														42			8		0	0	0.000978159	0	0
SGPP2	130367	broad.mit.edu	37	2	223423243	223423243	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:223423243G>A	uc010zlo.2	+	4	826	c.826G>A	c.(826-828)Gac>Aac	p.D276N	SGPP2_uc010zlp.2_Missense_Mutation_p.D148N	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	276					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		AACCCGGGCGGACACCACCAC	0.547000														137			33		0	0	0.000692331	0	0
SCGB3A2	117156	broad.mit.edu	37	5	147261022	147261022	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:147261022C>T	uc003lot.2	+	1	162	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_054023	NP_473364	Q96PL1	SG3A2_HUMAN	Homo sapiens secretoglobin, family 3A, member 2 (SCGB3A2), mRNA.	23						extracellular region	binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCTTCCTCATCAACAAAG	0.468000														63			14		0	0	0.000308642	0	0
PKD1L2	114780	broad.mit.edu	37	16	81145960	81145960	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:81145960C>T	uc002fgh.1	-	41	6786	c.6786G>A	c.(6784-6786)gaG>gaA	p.E2262E	PKD1L2_uc002fgf.1_Silent_p.E64E|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2264					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGCTGCTGTCTCACTGAAGC	0.517000														22			18		0	0	0.00152264	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563620	228563620	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228563620C>T	uc002vpi.3	-	2	900	c.811G>A	c.(811-813)Gag>Aag	p.E271K	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.E267K	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	271					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GAGTAGCACTCCTTCAAATCT	0.468000														64			16		0	0	0.00121646	0	0
ASTN1	460	broad.mit.edu	37	1	176992672	176992672	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:176992672C>T	uc001glc.3	-	6	1518	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	ASTN1_uc001glb.1_Missense_Mutation_p.D436N|ASTN1_uc001gld.1_Missense_Mutation_p.D436N|ASTN1_uc009wwx.1_Missense_Mutation_p.D436N|ASTN1_uc001gle.4_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	436					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACTGGCATCCAGCTGGCTC	0.607000														21			7		0	0	0.000157383	0	0
COL6A5	256076	broad.mit.edu	37	3	130159097	130159097	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130159097G>A	uc010htj.1	+	34	6409	c.5915G>A	c.(5914-5916)cGg>cAg	p.R1972Q	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R11Q|COL6A5_uc010htk.1_Missense_Mutation_p.R11Q	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	1972	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen		p.R1972Q(2)|p.R11Q(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GACAATTCTCGGAATATAGCA	0.398000														20			9		0	0	0.000673444	0	0
COL11A1	1301	broad.mit.edu	37	1	103381206	103381206	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:103381206G>A	uc001dum.3	-	49	4151	c.3833C>T	c.(3832-3834)cCt>cTt	p.P1278L	COL11A1_uc001duk.3_Missense_Mutation_p.P462L|COL11A1_uc001dul.3_Missense_Mutation_p.P1266L|COL11A1_uc001dun.3_Missense_Mutation_p.P1227L|COL11A1_uc009weh.3_Missense_Mutation_p.P1150L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1266	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCTTCCCCAGGAGGCCCTGG	0.363000														77			56		0	0	0.000781405	0	0
CSRP1	1465	broad.mit.edu	37	1	201453853	201453853	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:201453853G>A	uc021phg.1	-	5	723	c.570C>T	c.(568-570)gtC>gtT	p.V190V	CSRP1_uc001gwr.2_Non-coding_Transcript|CSRP1_uc021phh.1_Silent_p.V190V|CSRP1_uc001gws.3_Silent_p.V190V|CSRP1_uc010ppr.2_Silent_p.V184V	NM_001193572	NP_004069	P21291	CSRP1_HUMAN	Homo sapiens cysteine and glycine-rich protein 1 (CSRP1), transcript variant 5, mRNA.	190						nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						ACTCAGAGTGGACCAAGGCCC	0.542000														26			14		0	0	0.000219431	0	0
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	T	T	rs140203672	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123624553C>T	uc010rzy.2	-	0	674	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473000														31			19		0	0	0.00121646	0	0
PRKCZ	5590	broad.mit.edu	37	1	2080359	2080359	+	Missense_Mutation	SNP	C	T	T	rs146591213		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:2080359C>T	uc001aiq.3	+	7	844	c.683C>T	c.(682-684)tCg>tTg	p.S228L	PRKCZ_uc001air.3_Missense_Mutation_p.S45L|PRKCZ_uc010nyw.2_Missense_Mutation_p.S124L|PRKCZ_uc001ais.3_Missense_Mutation_p.S45L|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc009vlb.3_Missense_Mutation_p.S41L	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	228					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		AAAGACGACTCGGAGGTGAGT	0.532000														72			28		0	0	0.00058488	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533695	156533695	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156533695G>T	uc003lwk.2	-	1	591	c.337C>A	c.(337-339)Caa>Aaa	p.Q113K	HAVCR2_uc003lwl.3_Missense_Mutation_p.Q113K	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	113	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGGGATTTGGATCCGGCAG	0.428000														395			11		0.00136819	0.00643073	0.00136819	1	0
PNPLA2	57104	broad.mit.edu	37	11	823736	823736	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:823736C>T	uc001lrt.3	+	6	1003	c.800C>T	c.(799-801)gCc>gTc	p.A267V	PNPLA2_uc009ycl.3_Missense_Mutation_p.A31V|EFCAB4A_uc010qwt.1_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	Homo sapiens patatin-like phospholipase domain containing 2 (PNPLA2), mRNA.	267					negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCCCCGCCCGCCCCCAC	0.687000														18			6		0	0	0.000157383	0	0
EPS8L2	64787	broad.mit.edu	37	11	710470	710470	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:710470C>T	uc001lqt.3	+	3	396	c.149C>T	c.(148-150)tCg>tTg	p.S50L	EPS8L2_uc010qwj.1_Missense_Mutation_p.S50L|EPS8L2_uc001lqu.3_Missense_Mutation_p.S50L|EPS8L2_uc010qwk.2_Missense_Mutation_p.S50L|EPS8L2_uc001lqv.3_Missense_Mutation_p.S5L	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	50	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGAGACCTCGCAGTACCAC	0.617000														92			20		0	0	0.000375601	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185121	193185121	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:193185121G>A	uc003ftd.3	-	9	1206	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	ATP13A4_uc003fte.1_Silent_p.A366A|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Silent_p.A72A	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	366					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCAGTACCACGGCTCTCACGG	0.463000														30			14		0	0	0.000219431	0	0
OR1J2	26740	broad.mit.edu	37	9	125273126	125273126	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125273126G>A	uc011lyv.2	+	0	46	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	OR1J2_uc004bmj.2_Missense_Mutation_p.G16S	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCTCCTTCTGGGCCTCCCCAT	0.557000														65			33		0	0	0.00222228	0	0
COL22A1	169044	broad.mit.edu	37	8	139790639	139790639	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:139790639C>T	uc003yvd.3	-	14	2162	c.1715G>A	c.(1714-1716)gGa>gAa	p.G572E		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	572	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G572A(2)|p.G572S(2)|p.G572*(1)		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)			TCCAGGTGGTCCTTGGGGCCC	0.552000										HNSCC(7;0.00092)				35			4		0	0	0.00024832	0	0
BEND2	139105	broad.mit.edu	37	X	18238860	18238860	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:18238860C>G	uc004cyj.4	-	0	165	c.11G>C	c.(10-12)aGg>aCg	p.R4T	BEND2_uc010nfb.2_Missense_Mutation_p.R4T	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	4								p.R4M(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTCCTGGGTCCTCTCTGACAT	0.612000														52			20		0	0	0.00047179	0	0
NLRP4	147945	broad.mit.edu	37	19	56363457	56363457	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56363457C>T	uc002qmd.4	+	1	433	c.11C>T	c.(10-12)tCt>tTt	p.S4F		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	4	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGGCAGCCTCTTTCTTCTCT	0.398000														141			58		0	0	0.000781405	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025377	102025377	+	Silent	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:102025377C>A	uc001tii.3	+	4	383	c.243C>A	c.(241-243)gtC>gtA	p.V81V	MYBPC1_uc001tif.2_Silent_p.V94V|MYBPC1_uc001tig.3_Silent_p.V106V|MYBPC1_uc010svr.2_Silent_p.V81V|MYBPC1_uc010svs.2_Silent_p.V81V|MYBPC1_uc001tij.3_Silent_p.V81V|MYBPC1_uc010svt.2_Silent_p.V69V|MYBPC1_uc010svu.2_Silent_p.V81V|MYBPC1_uc001tik.3_Silent_p.V55V|MYBPC1_uc001tih.3_Silent_p.V106V|MYBPC1_uc010svq.2_Silent_p.V68V	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	81	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TAGCCAAAGTCAAGGCTGAAG	0.438000														69			53		2.69953e-25	1.29112e-24	0.000781405	1	0
SLC1A7	6512	broad.mit.edu	37	1	53555603	53555603	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:53555603G>A	uc021onn.1	-	8	1575	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	SLC1A7_uc021onm.1_Silent_p.I338I|SLC1A7_uc001cux.3_Silent_p.I63I|SLC1A7_uc001cuy.3_Silent_p.I410I|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	419						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CAGTGGCTGTGATACTGCAGG	0.642000														76			17		0	0	0.000422831	0	0
FNDC1	84624	broad.mit.edu	37	6	159653882	159653882	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:159653882G>A	uc010kjv.3	+	10	2538	c.2338G>A	c.(2338-2340)Gga>Aga	p.G780R	FNDC1_uc010kjw.1_Missense_Mutation_p.G665R	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	780						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGTCTCTGAGGGAGCGGAGGC	0.662000														19			10		0	0	0.000673444	0	0
TEX11	56159	broad.mit.edu	37	X	69773205	69773205	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:69773205C>T	uc004dyl.3	-	27	2557	c.2395G>A	c.(2395-2397)Gct>Act	p.A799T	TEX11_uc004dyk.3_Missense_Mutation_p.A474T|TEX11_uc004dym.3_Missense_Mutation_p.A784T	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	799							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGCAATAAAGCCTTTTTCAAG	0.348000														9			4		0	0	0.00024832	0	0
EDARADD	128178	broad.mit.edu	37	1	236645877	236645877	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:236645877G>A	uc001hxu.1	+	5	641	c.576G>A	c.(574-576)gaG>gaA	p.E192E	EDARADD_uc001hxv.1_Silent_p.E182E	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	192	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCGACGTGGAGAAGGTTCTGC	0.622000														77			31		0	0	0.000814825	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856562	72856563	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:72856562_72856563GG>AA	uc003tyc.3	-	18	4767_4768	c.4415_4416CC>TT	c.(4414-4416)gcc>gTT	p.A1472V	BAZ1B_uc022afu.1_5'Flank	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1472					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACTGTCCAACGGCCTCTGGCTC	0.589000														202			89		0	0	6.4e-05	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454939	187454939	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:187454939G>A	uc003izd.1	-	1	975	c.957C>T	c.(955-957)ttC>ttT	p.F319F		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	319					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGTCCACAAAGAACACCCTGG	0.438000														93			18		0	0	0.000958276	0	0
CCDC30	728621	broad.mit.edu	37	1	43076720	43076720	+	Silent	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:43076720A>G	uc009vwk.1	+	9	1565	c.1455A>G	c.(1453-1455)gaA>gaG	p.E485E	CCDC30_uc001chm.2_Silent_p.E183E|CCDC30_uc001chn.2_Silent_p.E274E	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	485										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						CTCTACGTGAAGAATATTTGC	0.358000														62			23		0	0	0.000720815	0	0
CAT	847	broad.mit.edu	37	11	34477732	34477732	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:34477732C>T	uc001mvm.3	+	6	975	c.886C>T	c.(886-888)Cca>Tca	p.P296S	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	296					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TCCATTTAATCCATTCGATCT	0.353000														30			5		0	0	0.000602214	0	0
PFKFB2	5208	broad.mit.edu	37	1	207242814	207242814	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207242814C>G	uc001hfg.3	+	10	1142	c.1033C>G	c.(1033-1035)Cca>Gca	p.P345A	PFKFB2_uc010psc.2_Missense_Mutation_p.P247A|PFKFB2_uc001hfh.3_Missense_Mutation_p.P345A|PFKFB2_uc009xcc.3_Missense_Mutation_p.P303A|PFKFB2_uc010psd.2_Missense_Mutation_p.P159A	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	345	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	p.P345Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GAAACGGTACCCAGAAGAGTT	0.488000														74			7		0	0	0.00136819	0	0
OR10J5	127385	broad.mit.edu	37	1	159505126	159505126	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159505126G>A	uc010piw.2	-	0	672	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAATTTGAAGGATGGAAGAGA	0.453000														40			7		0	0	0.000274275	0	0
AMPD1	270	broad.mit.edu	37	1	115220613	115220613	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:115220613G>A	uc001efe.2	-	8	1289	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	AMPD1_uc001eff.2_Missense_Mutation_p.P410L	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	381					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGCTCCTACAGGATTATATTT	0.428000														40			24		0	0	0.000375601	0	0
SPTB	6710	broad.mit.edu	37	14	65240078	65240078	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:65240078C>T	uc001xht.3	-	23	5089	c.5038G>A	c.(5038-5040)Gaa>Aaa	p.E1680K	SPTB_uc001xhr.3_Missense_Mutation_p.E1680K|SPTB_uc001xhs.3_Missense_Mutation_p.E1680K|SPTB_uc001xhu.3_Missense_Mutation_p.E1680K|SPTB_uc010aqi.3_Missense_Mutation_p.E341K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1680					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTGCGCTCTTCCGCCACGTCC	0.557000														106			23		0	0	0.000878237	0	0
FOLR1	2348	broad.mit.edu	37	11	71906446	71906446	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:71906446C>T	uc001orz.2	+	3	576	c.300C>T	c.(298-300)ttC>ttT	p.F100F	FOLR1_uc001osa.2_Silent_p.F100F|FOLR1_uc001osb.2_Silent_p.F100F|FOLR1_uc001osd.2_Silent_p.F100F	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	100					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						AACGGCATTTCATCCAGGACA	0.547000														104			59		0	0	0.000781405	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032653	46032653	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:46032653C>T	uc002zfo.1	+	0	658	c.636C>T	c.(634-636)ctC>ctT	p.L212L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	212	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						TGTCCCTCCTctgccgccctg	0.682000														90			19		0	0	0.00121646	0	0
MMRN1	22915	broad.mit.edu	37	4	90844324	90844324	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:90844324G>A	uc003hst.3	+	3	927	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	MMRN1_uc010iku.3_Missense_Mutation_p.E252K|MMRN1_uc011cds.2_Missense_Mutation_p.E28K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	286					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCTAGCCCAGGAACAGCAAAG	0.483000														74			17		0	0	0.000566183	0	0
C2orf18	54978	broad.mit.edu	37	2	27001223	27001223	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:27001223C>T	uc002rhp.1	+	5	1036	c.960C>T	c.(958-960)atC>atT	p.I320I	C2orf18_uc002rhq.1_Silent_p.I237I|C2orf18_uc010eyo.1_Silent_p.I267I|C2orf18_uc010ylc.1_Silent_p.I173I	NM_017877	NP_060347	Q8N357	CB018_HUMAN	Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA.	320						integral to membrane|lysosomal membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGCAGATCCTTGGCTTCC	0.637000														121			44		0	0	0.000781405	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409715	69409715	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:69409715G>A	uc002sfg.3	+	15	1632	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	426					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCAGGAATATGAATTCCCTGA	0.458000									Familial Infantile Hemangioma					100			19		0	0	0.00121646	0	0
KRT2	3849	broad.mit.edu	37	12	53044244	53044244	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:53044244G>A	uc001sat.3	-	1	712	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	227	Linker 1.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGAAGATGGGCTCCAGGTTG	0.502000														78			43		0	0	0.000781405	0	0
ITIH1	3697	broad.mit.edu	37	3	52823770	52823770	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52823770G>A	uc003dfs.3	+	18	2251	c.2221G>A	c.(2221-2223)Gac>Aac	p.D741N	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.D599N|ITIH1_uc021wzg.1_Missense_Mutation_p.D453N|ITIH1_uc021wzh.1_Missense_Mutation_p.D453N|ITIH1_uc003dft.3_Missense_Mutation_p.D342N	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	741	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCCTGCCACGGACTTTCAGTT	0.592000														113			35		0	0	0.000692331	0	0
CTAGE5	4253	broad.mit.edu	37	14	39815129	39815129	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:39815129C>T	uc001wvi.4	+	20	2204	c.1868C>T	c.(1867-1869)gCc>gTc	p.A623V	CTAGE5_uc010tqe.1_Missense_Mutation_p.A580V|CTAGE5_uc001wuy.4_Missense_Mutation_p.A538V|CTAGE5_uc001wuz.4_Missense_Mutation_p.A606V|CTAGE5_uc001wva.4_Missense_Mutation_p.A589V|CTAGE5_uc001wvb.4_Missense_Mutation_p.A546V|CTAGE5_uc001wvc.4_Missense_Mutation_p.A520V|CTAGE5_uc001wvf.4_Missense_Mutation_p.A543V|CTAGE5_uc001wvg.4_Missense_Mutation_p.A618V|CTAGE5_uc001wvh.4_Missense_Mutation_p.A575V|CTAGE5_uc010amz.3_Missense_Mutation_p.A234V|CTAGE5_uc001wvj.4_Missense_Mutation_p.A589V	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	618	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CCTGATTCAGCCCTTCCTCCA	0.323000														44			9		0	0	0.000274275	0	0
CD101	9398	broad.mit.edu	37	1	117559809	117559809	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:117559809C>T	uc010oxb.1	+	4	1384	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	CD101_uc009whd.3_Silent_p.P442P|CD101_uc010oxc.1_Silent_p.P442P|CD101_uc010oxd.1_Silent_p.P380P	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	442	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGAAAGTCCCCTGTCTGTGA	0.567000														40			7		0	0	0.00198382	0	0
KLHL13	90293	broad.mit.edu	37	X	117053535	117053535	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:117053535G>A	uc011mtp.2	-	4	661	c.528C>T	c.(526-528)ttC>ttT	p.F176F	KLHL13_uc004eqk.3_Silent_p.F122F|KLHL13_uc004eql.3_Silent_p.F173F|KLHL13_uc011mtn.2_Silent_p.F13F|KLHL13_uc011mto.2_Silent_p.F167F|KLHL13_uc011mtq.2_Silent_p.F157F|KLHL13_uc004eqm.3_Silent_p.F131F|KLHL13_uc022cde.1_Silent_p.F157F	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	173					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAATCTGTAGGAAACTGGCAG	0.383000														43			30		0	0	0.00178596	0	0
TIMP4	7079	broad.mit.edu	37	3	12198424	12198425	+	Missense_Mutation	DNP	CC	AA	AA	rs140467141		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:12198424_12198425CC>AA	uc003bwo.3	-	2	758_759	c.247_248GG>TT	c.(247-249)ggg>TTg	p.G83L	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	83	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TTTCTCAAACCCTTTGAACATC	0.396000														502			13		0	0	6.4e-05	0	0
IGSF3	3321	broad.mit.edu	37	1	117122381	117122381	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:117122381G>A	uc001egq.1	-	10	3732	c.3027C>T	c.(3025-3027)gcC>gcT	p.A1009A	IGSF3_uc001egr.1_Silent_p.A989A	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	989	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGGAATACCAGGCCACAGCGA	0.607000														44			9		0	0	0.000978159	0	0
MLC1	23209	broad.mit.edu	37	22	50512717	50512717	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:50512717G>A	uc003bjg.1	-	7	915	c.642C>T	c.(640-642)atC>atT	p.I214I	MLC1_uc011arl.1_Silent_p.I162I|MLC1_uc003bjh.1_Silent_p.I214I|MLC1_uc011arm.1_Silent_p.I184I|MLC1_uc011arn.1_Silent_p.I135I|MLC1_uc011aro.1_Silent_p.I180I	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	214						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCAGGGCAATGATCCCCCCGA	0.602000														32			13		0	0	0.000219431	0	0
TKTL1	8277	broad.mit.edu	37	X	153543534	153543534	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153543534G>A	uc004fkg.3	+	6	1062	c.876G>A	c.(874-876)cgG>cgA	p.R292R	TKTL1_uc011mzl.2_Silent_p.R286R|TKTL1_uc011mzm.2_Silent_p.R88R|TKTL1_uc004fkh.3_Silent_p.R236R	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	292					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.R292W(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGCTACTCGGAAAGCATGCG	0.458000														40			31		0	0	0.0024448	0	0
HLA-DPB2	3116	broad.mit.edu	37	6	33095812	33095812	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:33095812G>A	uc003ocw.1	+	2		c.582G>A								Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA.																		CCCCCAGCAGGGAAACATCTA	0.572000														10			10		0	0	0.00136819	0	0
RP1	6101	broad.mit.edu	37	8	55533787	55533787	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:55533787G>A	uc003xsd.1	+	1	409	c.261G>A	c.(259-261)cgG>cgA	p.R87R	RP1_uc011ldy.1_Silent_p.R87R	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	87	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.R87W(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCACCCCTCGGGGCAGGCACA	0.592000														40			13		0	0	0.00136819	0	0
CNKSR1	10256	broad.mit.edu	37	1	26511561	26511561	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:26511561G>A	uc001bln.4	+	13	1271	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.D398N|CNKSR1_uc009vsd.3_Missense_Mutation_p.D140N|CNKSR1_uc009vse.3_Missense_Mutation_p.D140N	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	405	PH.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGGCCGGACTGTGACGG	0.701000														29			22		0	0	0.00229938	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42863329	42863329	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:42863329G>A	uc010skv.2	-	3	594	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	PRICKLE1_uc001rnl.3_Nonsense_Mutation_p.Q103*|PRICKLE1_uc010skw.2_Nonsense_Mutation_p.Q103*|PRICKLE1_uc001rnm.3_Nonsense_Mutation_p.Q103*|PRICKLE1_uc009zka.2_Nonsense_Mutation_p.Q99*	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	103	PET.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTCTTCCGCTGAGCACTGAAC	0.488000														32			19		0	0	0.000958276	0	0
MERTK	10461	broad.mit.edu	37	2	112761530	112761530	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:112761530C>T	uc002thk.1	+	12	1958	c.1836C>T	c.(1834-1836)acC>acT	p.T612T	MERTK_uc002thl.1_Silent_p.T436T	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	612	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AAGATGGGACCTCTCTGAAAG	0.468000														65			23		0	0	0.0024448	0	0
SPEF2	79925	broad.mit.edu	37	5	35712950	35712950	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:35712950G>A	uc003jjo.3	+	19	2987	c.2876G>A	c.(2875-2877)gGa>gAa	p.G959E	SPEF2_uc003jjp.1_Missense_Mutation_p.G445E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	959					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCAGGAAGGAAAAGGGAAG	0.348000														40			9		0	0	0.00136819	0	0
GRM2	2912	broad.mit.edu	37	3	51749225	51749225	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51749225C>T	uc010hlv.3	+	3	1675	c.1436C>T	c.(1435-1437)aCt>aTt	p.T479I	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	479					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GAAGGCTTGACTCTGGACACC	0.607000														35			7		0	0	0.00198382	0	0
MRPL55	128308	broad.mit.edu	37	1	228295420	228295420	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:228295420C>T	uc001hrz.4	-	4	574	c.285G>A	c.(283-285)caG>caA	p.Q95Q	MRPL55_uc001hsg.4_Silent_p.Q59Q|MRPL55_uc009xex.3_Silent_p.Q59Q|MRPL55_uc001hsa.4_Silent_p.Q59Q|MRPL55_uc001hsb.4_Silent_p.Q59Q|MRPL55_uc001hsc.4_Silent_p.Q59Q|MRPL55_uc001hsd.4_Silent_p.Q59Q|MRPL55_uc001hse.4_Silent_p.Q59Q|MRPL55_uc001hsf.4_Silent_p.Q59Q	NM_181462	NP_852127	Q7Z7F7	RM55_HUMAN	Homo sapiens mitochondrial ribosomal protein L55 (MRPL55), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	59					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				TGGAGCCATCCTGCTTCACCA	0.647000														35			19		0	0	0.00152264	0	0
HSCB	150274	broad.mit.edu	37	22	29139919	29139919	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:29139919C>G	uc003aea.3	+	1	327	c.286C>G	c.(286-288)Caa>Gaa	p.Q96E	CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adx.1_5'Flank	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.	96	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						CAGGTACCAGCAACTGCAGCG	0.453000														135			48		0	0	0.000781405	0	0
GHDC	84514	broad.mit.edu	37	17	40343194	40343194	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:40343194G>A	uc002hzd.3	-	4	1408	c.924C>T	c.(922-924)ccC>ccT	p.P308P	GHDC_uc002hzg.2_Silent_p.P308P|GHDC_uc010wgg.2_Silent_p.P269P|GHDC_uc002hze.4_Silent_p.P308P|GHDC_uc002hzf.4_Silent_p.P308P	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	308						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGAGCCCATGGGGCTGCTCTG	0.627000														47			31		0	0	0.00148497	0	0
PLCE1	51196	broad.mit.edu	37	10	96006226	96006226	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96006226G>A	uc001kjk.3	+	7	3578	c.2944G>A	c.(2944-2946)Gac>Aac	p.D982N	PLCE1_uc010qnx.2_Missense_Mutation_p.D982N|PLCE1_uc001kjm.3_Missense_Mutation_p.D674N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	982					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAGACCACAGACAACAGATT	0.453000														71			15		0	0	0.000566183	0	0
SSPO	23145	broad.mit.edu	37	7	149492727	149492727	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:149492727C>T	uc010lpk.3	+	42	6498	c.6498C>T	c.(6496-6498)ctC>ctT	p.L2166L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2169	F5/8 type C.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCGTGACCTCCTGCCTGGCA	0.592000														182			65		0	0	0.000781405	0	0
ATP10A	57194	broad.mit.edu	37	15	25958934	25958934	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:25958934G>A	uc010ayu.3	-	9	2337	c.2231C>T	c.(2230-2232)tCc>tTc	p.S744F		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	744					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTTGCGGACGGAATCGAAACC	0.602000														66			11		0	0	0.00136819	0	0
FLT4	2324	broad.mit.edu	37	5	180043924	180043924	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:180043924C>T	uc003mlz.4	-	21	3151	c.3072G>A	c.(3070-3072)ggG>ggA	p.G1024G	FLT4_uc003mma.4_Silent_p.G1024G	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1024	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGAACTCCATCCCTCTGGCCA	0.602000														95			22		0	0	0.001512	0	0
SYNE1	23345	broad.mit.edu	37	6	152737898	152737898	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:152737898C>T	uc021zhb.1	-	38	5897	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K	SYNE1_uc003qot.4_Missense_Mutation_p.E1899K|SYNE1_uc003qou.4_Missense_Mutation_p.E1892K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1875K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1892					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGTTGCTTCCACTGTTTGC	0.498000										HNSCC(10;0.0054)				26			10		0	0	0.00185496	0	0
CASR	846	broad.mit.edu	37	3	121980902	121980902	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121980902G>A	uc003eew.4	+	3	1458	c.1020G>A	c.(1018-1020)agG>agA	p.R340R	CASR_uc003eev.4_Silent_p.R340R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	340					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCATCCCAGGAAGTCTGTCC	0.517000														43			8		0	0	0.000274275	0	0
GPR98	84059	broad.mit.edu	37	5	90046500	90046500	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:90046500C>T	uc003kju.3	+	52	11203	c.11107C>T	c.(11107-11109)Cct>Tct	p.P3703S	GPR98_uc003kjt.3_Missense_Mutation_p.P1409S|GPR98_uc003kjv.3_Missense_Mutation_p.P1303S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3703	Calx-beta 24.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.P3703S(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGATATATTTCCTACCTCAGG	0.378000														111			33		0	0	0.00170553	0	0
EPHB1	2047	broad.mit.edu	37	3	134851825	134851825	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:134851825G>A	uc003eqt.3	+	4	1606	c.1231G>A	c.(1231-1233)Gga>Aga	p.G411R	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	411	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCATCAATGGAGTCTCCAG	0.592000														36			7		0	0	0.000157383	0	0
BMP3	651	broad.mit.edu	37	4	81966905	81966905	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:81966905A>T	uc003hmg.4	+	1	650	c.330A>T	c.(328-330)agA>agT	p.R110S		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	110					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTCTTGAAAGAAAAGGACTGT	0.358000														47			7		0	0	0.000442599	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869722	22869722	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:22869722T>G	uc002zwe.3	-	1	486	c.233A>C	c.(232-234)cAc>cCc	p.H78P	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.H78P	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGACGGAAGTGGCCTTTCTT	0.468000														117			36		0	0	0.00148497	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509253	110509253	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110509253G>A	uc003yne.3	+	63	10537	c.10433G>A	c.(10432-10434)gGa>gAa	p.G3478E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3478					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)			CTTATACAAGGATTTACCATT	0.338000										HNSCC(38;0.096)				79			17		0	0	0.00074312	0	0
MGEA5	10724	broad.mit.edu	37	10	103557835	103557835	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:103557835G>A	uc001ktv.2	-	9	2329	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Missense_Mutation_p.S576F|MGEA5_uc009xws.2_Missense_Mutation_p.S576F|MGEA5_uc001ktw.2_Missense_Mutation_p.S629F	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	629	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GGCACAATTGGAGAGCCGAGT	0.403000														74			12		0	0	0.00136819	0	0
abParts	0	broad.mit.edu	37	14	106494266	106494266	+	RNA	SNP	C	T	T	rs1065550		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106494266C>T	uc021ser.1	-	2337		c.41386G>A								Parts of antibodies, mostly variable regions.																		CGCTTATCATCATTCCAATAA	0.537000														38			7		0	0	0.00198382	0	0
LRGUK	136332	broad.mit.edu	37	7	133842793	133842793	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:133842793G>A	uc003vrm.1	+	5	692	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	226							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TATAGGCAATGAGATAGAAGA	0.348000														58			19		0	0	0.00188189	0	0
TRIML1	339976	broad.mit.edu	37	4	189068239	189068239	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:189068239G>A	uc003izm.1	+	5	1235	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TRIML1_uc003izn.1_Missense_Mutation_p.D98N	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	374	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCCACCTGGGGACCTGTTCTC	0.522000														71			17		0	0	0.000958276	0	0
TM4SF4	7104	broad.mit.edu	37	3	149193655	149193655	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:149193655T>C	uc003exd.2	+	1	517	c.220T>C	c.(220-222)Tgc>Cgc	p.C74R		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	74						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAACAATGACTGCTGTGGGTG	0.567000														8			10		0	0	0.000308642	0	0
MB	4151	broad.mit.edu	37	22	36007086	36007086	+	Missense_Mutation	SNP	C	T	T	rs145465287		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:36007086C>T	uc003anz.3	-	1	243	c.163G>A	c.(163-165)Gag>Aag	p.E55K	MB_uc003aoa.3_Missense_Mutation_p.E55K|MB_uc003aob.3_Missense_Mutation_p.E55K	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	55			E -> K.				heme binding|oxygen transporter activity			lung(1)	1						GCCTTCATCTCGTCCTCTGAC	0.542000														85			33		0	0	0.000509022	0	0
MARCH7	64844	broad.mit.edu	37	2	160605254	160605254	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:160605254C>T	uc002uax.3	+	4	1575	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	MARCH7_uc010foq.3_Missense_Mutation_p.R485W|MARCH7_uc010zcn.2_Missense_Mutation_p.R429W|MARCH7_uc010for.3_Missense_Mutation_p.R447W|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	485							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTCCTTATTCCGGTTTGCAGT	0.453000														273			93		0	0	0.000781405	0	0
NEBL	10529	broad.mit.edu	37	10	21120484	21120484	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:21120484T>A	uc001iqi.3	-	14	1875	c.1478A>T	c.(1477-1479)gAa>gTa	p.E493V	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	493					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCTTTAATTTCAGTCTCCAG	0.423000														34			15		0	0	0.000422831	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128848675	128848675	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:128848675C>T	uc009zcp.3	-	17	2070	c.2070G>A	c.(2068-2070)atG>atA	p.M690I	ARHGAP32_uc009zcq.2_Missense_Mutation_p.M650I|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.M341I	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	690					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTTTCAGAGCCATGGCTTTCA	0.473000														22			13		0	0	0.000422831	0	0
NEXN	91624	broad.mit.edu	37	1	78392407	78392407	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:78392407G>A	uc001dic.4	+	7	991	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	NEXN_uc001dia.3_Missense_Mutation_p.E218K|NEXN_uc009wcb.1_Missense_Mutation_p.E154K|NEXN_uc001dib.4_Missense_Mutation_p.E168K|NEXN_uc001did.1_Missense_Mutation_p.E142K|NEXN_uc001dif.1_Missense_Mutation_p.E124K	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	232	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TTAGGATGATGAAATAGAAAG	0.338000														172			46		0	0	0.000781405	0	0
ZNF189	7743	broad.mit.edu	37	9	104171635	104171635	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:104171635C>T	uc004bbh.1	+	2	1861	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	ZNF189_uc004bbg.1_Nonsense_Mutation_p.R487*|ZNF189_uc004bbi.1_Nonsense_Mutation_p.R515*|ZNF189_uc011lvk.1_Nonsense_Mutation_p.R514*|ZNF189_uc022ble.1_Nonsense_Mutation_p.R434*	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	529					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R529*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TAATCTTATTCGACATCAGGG	0.423000														25			20		0	0	0.000375601	0	0
MYH7	4625	broad.mit.edu	37	14	23886362	23886362	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23886362C>T	uc001wjx.3	-	32	4625	c.4519_splice	c.e32+1	p.E1507_splice		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1507					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCAGCACACCCTGCAGGTTT	0.602000														142			29		0	0	0.000814825	0	0
TRA@	6955	broad.mit.edu	37	14	22111789	22111789	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:22111789C>T	uc001wbk.3	+	1	393	c.360C>T	c.(358-360)taC>taT	p.Y120Y						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114.																		CTGCCTCTTACCTCTGTGCTG	0.463000			T	"""ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6"""	T-ALL									41			12		0	0	0.00185496	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859837	6859837	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:6859837C>T	uc002knc.3	+	4	3722	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	ARHGAP28_uc002kne.3_Silent_p.L64L|ARHGAP28_uc010wzi.2_Silent_p.L46L|ARHGAP28_uc002knf.3_Silent_p.L55L	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	46					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)				CAGTACTACCCTGTCTGACGC	0.428000														175			27		0	0	0.001512	0	0
EPHB2	2048	broad.mit.edu	37	1	23233402	23233402	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:23233402G>A	uc009vqj.1	+	10	2233	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	EPHB2_uc001bge.3_Missense_Mutation_p.M697I|EPHB2_uc001bgf.3_Missense_Mutation_p.M696I|EPHB2_uc010odu.2_Missense_Mutation_p.M638I	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	696	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CACCTGTGATGATCATCACCG	0.592000														42			17		0	0	0.000566183	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798862	57798862	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:57798862C>T	uc010rjz.2	+	0	438	c.438C>T	c.(436-438)atC>atT	p.I146I	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCACCTGCATCCGTCTGGCAG	0.512000														37			17		0	0	0.000958276	0	0
CYP19A1	1588	broad.mit.edu	37	15	51535086	51535086	+	Silent	SNP	C	T	T	rs143386224		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:51535086C>T	uc001zyz.4	-	2	275	c.24G>A	c.(22-24)ccG>ccA	p.P8P	CYP19A1_uc001zza.4_Silent_p.P8P|CYP19A1_uc001zzb.2_Silent_p.P8P|CYP19A1_uc001zzd.3_Silent_p.P8P|CYP19A1_uc010bey.1_Silent_p.P8P|CYP19A1_uc001zze.2_Non-coding_Transcript	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	8					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.P8L(2)|p.P8S(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TATAATGTATCGGGTTCAGCA	0.478000														100			26		0	0	0.0024448	0	0
CCDC129	223075	broad.mit.edu	37	7	31690788	31690788	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:31690788G>A	uc011kae.2	+	11	2706	c.2694G>A	c.(2692-2694)acG>acA	p.T898T	CCDC129_uc011kad.1_Silent_p.T882T|CCDC129_uc003tcj.1_Silent_p.T872T|CCDC129_uc003tci.1_Silent_p.T723T|CCDC129_uc003tck.1_Silent_p.T780T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	872										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCATGAAGACGATATGCCAAA	0.468000														70			8		0	0	0.000442599	0	0
PTPRK	5796	broad.mit.edu	37	6	128643321	128643321	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:128643321G>A	uc003qbk.3	-	2	725	c.358C>T	c.(358-360)Cct>Tct	p.P120S	PTPRK_uc010kfc.3_Missense_Mutation_p.P120S|PTPRK_uc003qbj.3_Missense_Mutation_p.P120S|PTPRK_uc011ebu.2_Missense_Mutation_p.P120S|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.P120S|PTPRK_uc003qbm.4_Missense_Mutation_p.P49S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	120	MAM.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAGTGCCAGGATTCAGTCCT	0.443000														46			28		0	0	0.001512	0	0
C8A	731	broad.mit.edu	37	1	57351711	57351711	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:57351711G>A	uc001cyo.2	+	6	1099	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	323	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.P322P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAGCTTCCAGATCAGTACAA	0.413000														49			27		0	0	0.00106085	0	0
MCM6	4175	broad.mit.edu	37	2	136603847	136603847	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:136603847G>A	uc002tuw.3	-	14	2245	c.2169C>T	c.(2167-2169)atC>atT	p.I723I		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	723					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TAAGGTTAGAGATTCGGCAGT	0.478000														96			29		0	0	0.001512	0	0
MOB3B	79817	broad.mit.edu	37	9	27455544	27455544	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:27455544G>A	uc003zqn.3	-	1	501	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	Homo sapiens MOB kinase activator 3B (MOB3B), mRNA.	2							metal ion binding|protein binding										CAGGGCTATGGACATGGTCTT	0.498000														89			22		0	0	0.000586117	0	0
ATP1A4	480	broad.mit.edu	37	1	160143373	160143373	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:160143373G>A	uc001fve.4	+	12	2336	c.1857G>A	c.(1855-1857)gtG>gtA	p.V619V	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.V122V	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	619					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAACCCAGGTGATCATGGTAA	0.517000														74			30		0	0	0.000491102	0	0
SLAIN2	57606	broad.mit.edu	37	4	48422161	48422161	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:48422161C>T	uc003gya.4	+	6	1524	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	460						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CAGGCAAATTCCGTTCCCCTG	0.428000														41			5		0	0	0.00198382	0	0
MLLT4	4301	broad.mit.edu	37	6	168312016	168312016	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:168312016C>T	uc021zik.1	+	14	2080	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	MLLT4_uc003qwb.1_Silent_p.V612V|MLLT4_uc003qwc.2_Silent_p.V628V|MLLT4_uc021zij.1_Silent_p.V612V|MLLT4_uc003qwf.3_Silent_p.V313V|MLLT4_uc021zim.1_Silent_p.V174V|MLLT4_uc003qwg.1_5'Flank	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	628					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCTCTACAGTCCACTTTAAGT	0.353000			T	MLL	AL									78			22		0	0	0.00188189	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463717	123463717	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:123463717C>T	uc001uea.1	+	6	898	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	OGFOD2_uc001uds.1_Missense_Mutation_p.R129W|OGFOD2_uc001udv.1_Missense_Mutation_p.R129W|OGFOD2_uc001udt.1_Missense_Mutation_p.R129W|OGFOD2_uc001udu.1_Missense_Mutation_p.R129W|OGFOD2_uc009zxs.1_Missense_Mutation_p.R129W|OGFOD2_uc001udw.1_Missense_Mutation_p.R129W|OGFOD2_uc001udy.1_Missense_Mutation_p.R129W|OGFOD2_uc001udz.1_Missense_Mutation_p.R233W|OGFOD2_uc001ueb.1_Missense_Mutation_p.R129W|ARL6IP4_uc001uec.3_5'Flank|ARL6IP4_uc001ued.3_5'Flank|ARL6IP4_uc001uee.3_5'Flank|ARL6IP4_uc001uef.3_5'Flank|ARL6IP4_uc001ueg.3_5'Flank|ARL6IP4_uc009zxt.3_5'Flank|ARL6IP4_uc001uei.3_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA.	293	Fe2OG dioxygenase.						L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GCATGGAGCCCGGCCCTTGGG	0.682000														32			21		0	0	0.00152264	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357106	36357106	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:36357106G>A	uc002ocb.4	+	14	2051	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Silent_p.L575L|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	613					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGAGCCTGAGCCTTGGCG	0.607000														56			24		0	0	0.000586117	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573174	140573174	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140573174C>T	uc003lix.3	+	0	1223	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	350					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.V349I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGATCGTATCATCATTTTCC	0.433000														120			28		0	0	0.00209593	0	0
MECOM	2122	broad.mit.edu	37	3	168834404	168834404	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:168834404G>A	uc011bpj.1	-	7	1659	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	MECOM_uc010hwk.1_Missense_Mutation_p.S254F|MECOM_uc003ffj.3_Missense_Mutation_p.S296F|MECOM_uc003ffi.3_Missense_Mutation_p.S231F|MECOM_uc011bpi.1_Missense_Mutation_p.S232F|MECOM_uc003ffn.3_Missense_Mutation_p.S231F|MECOM_uc003ffk.2_Missense_Mutation_p.S231F|MECOM_uc003ffl.2_Missense_Mutation_p.S391F|MECOM_uc011bpk.1_Missense_Mutation_p.S231F|MECOM_uc010hwn.2_Missense_Mutation_p.S419F	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTATTTAAGGAAGACGTAGT	0.453000														67			28		0	0	0.001512	0	0
NBEAL2	23218	broad.mit.edu	37	3	47030358	47030358	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:47030358C>T	uc003cqp.3	+	2	346	c.167C>T	c.(166-168)cCg>cTg	p.P56L	NBEAL2_uc003cqq.1_Missense_Mutation_p.P49L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	56							binding	p.P56L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCAGAGGTCCCGCTGCTACCA	0.612000														98			29		0	0	0.00058488	0	0
ZNF572	137209	broad.mit.edu	37	8	125988866	125988866	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:125988866C>T	uc003yrr.3	+	2	511	c.356C>T	c.(355-357)gCc>gTc	p.A119V		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATACCAATGCCTGTGTCCAG	0.423000										HNSCC(60;0.17)				66			18		0	0	0.00152264	0	0
ABCA7	10347	broad.mit.edu	37	19	1051955	1051955	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:1051955C>T	uc002lqw.4	+	21	3208	c.2977C>T	c.(2977-2979)Ctc>Ttc	p.L993F	ABCA7_uc010dsb.1_Missense_Mutation_p.L855F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	993	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCTGATCCTCTCCACCCA	0.672000														83			23		0	0	0.000878237	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877986	4877986	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:4877986C>T	uc001ihi.3	+	3	559	c.444C>T	c.(442-444)ttC>ttT	p.F148F	AKR1E2_uc010qam.1_Silent_p.F109F|AKR1E2_uc001ihh.1_Silent_p.F148F|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Silent_p.F148F|AKR1E2_uc009xhw.3_Silent_p.F148F	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	148						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ACACGGACTTCCTGGACACGT	0.567000														47			24		0	0	0.00127121	0	0
C1orf130	400746	broad.mit.edu	37	1	24932131	24932131	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:24932131G>A	uc001bjk.2	+	3	303	c.202G>A	c.(202-204)Ggc>Agc	p.G68S		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.	68						integral to membrane				large_intestine(1)	1		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		AGAGCCCAAGGGCCCCAAGCC	0.597000														42			16		0	0	0.000566183	0	0
EEF2K	29904	broad.mit.edu	37	16	22262623	22262623	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:22262623C>T	uc002dki.3	+	5	1083	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	200	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGAGTATAATCGGCACAAGCC	0.612000														17			5		0	0	0.000602214	0	0
COL3A1	1281	broad.mit.edu	37	2	189856222	189856222	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189856222G>A	uc002uqj.1	+	11	979	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	288	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGTGAAAATGGTCTTCCAGG	0.279000														21			11		0	0	0.000308642	0	0
TNFAIP8	25816	broad.mit.edu	37	5	118728837	118728837	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:118728837G>A	uc003ksi.3	+	1	548	c.358G>A	c.(358-360)Gat>Aat	p.D120N	TNFAIP8_uc003ksf.1_3'UTR|TNFAIP8_uc003ksg.3_Missense_Mutation_p.D110N|TNFAIP8_uc011cwf.2_Missense_Mutation_p.D114N	NM_014350	NP_055165	O95379	TFIP8_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8 (TNFAIP8), transcript variant 1, mRNA.	120					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CCATCAGGTGGATTATACCTT	0.423000														39			7		0	0	0.00198382	0	0
TNXB	7148	broad.mit.edu	37	6	32029366	32029366	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32029366G>A	uc003nzl.2	-	20	7502	c.7300C>T	c.(7300-7302)Ccc>Tcc	p.P2434S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2494	Fibronectin type-III 16.				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						CGGCCCTGGGGGACGGTCCAG	0.692000														136			96		0	0	0.000781405	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876287	18876287	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:18876287T>A	uc021qvx.1	-	3	516	c.325A>T	c.(325-327)Att>Ttt	p.I109F	PLCZ1_uc001rdv.4_Missense_Mutation_p.I5F|PLCZ1_uc001rdw.4_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	109					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)					TCAAAAGCAATAGCTTTACTC	0.318000														16			8		0	0	0.000274275	0	0
CXCR1	3577	broad.mit.edu	37	2	219029590	219029590	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219029590G>A	uc021vwq.1	-	0	345	c.345C>T	c.(343-345)ctC>ctT	p.L115L	CXCR1_uc002vhc.3_Silent_p.L115L	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	115					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CTTCCTTCAGGAGTGAGACCA	0.562000														37			12		0	0	0.000219431	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813572	106813572	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:106813572C>T	uc003ymd.3	+	7	1285	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	ZFPM2_uc011lhs.2_Missense_Mutation_p.P152L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	421					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCGAACTTCCCCAGAGCCAA	0.498000														20			4		0	0	0.00024832	0	0
COL6A5	256076	broad.mit.edu	37	3	130095440	130095440	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130095440C>T	uc010htj.1	+	2	922	c.428C>T	c.(427-429)tCg>tTg	p.S143L	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	143	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTCCTGGCTTCGGCTGAGTCT	0.502000														6			4		0	0	0.00024832	0	0
OR14C36	127066	broad.mit.edu	37	1	248512192	248512192	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248512192G>A	uc010pzl.2	+	0	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACTCTAATGGGAAACATCCTC	0.433000														60			28		0	0	0.00178596	0	0
SPG7	6687	broad.mit.edu	37	16	89598979	89598979	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:89598979C>T	uc002fnj.3	+	8	1280	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	SPG7_uc002fni.3_Missense_Mutation_p.T420I	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	420					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CGCTCCACCACCATGTCCGGC	0.632000														59			27		0	0	0.00178596	0	0
SLC6A3	6531	broad.mit.edu	37	5	1406321	1406321	+	Silent	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:1406321G>C	uc003jck.3	-	11	1707	c.1581C>G	c.(1579-1581)gtC>gtG	p.V527V		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	527					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCAGGGGCTGACCAGCTTCC	0.682000														63			16		0	0	0.000566183	0	0
PSD4	23550	broad.mit.edu	37	2	113956440	113956440	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113956440G>A	uc002tjc.3	+	14	2931	c.2748G>A	c.(2746-2748)gtG>gtA	p.V916V	PSD4_uc002tjd.3_Silent_p.V536V|PSD4_uc002tje.3_Silent_p.V886V|PSD4_uc002tjf.3_Silent_p.V537V|PSD4_uc002tjg.3_Silent_p.V82V|PSD4_uc010yxs.2_Silent_p.V146V|PSD4_uc002tjh.3_Silent_p.V37V	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	916					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGCCCGTGGGCCCCGCCC	0.721000														11			4		0	0	0.00024832	0	0
FAM123C	205147	broad.mit.edu	37	2	131522187	131522187	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:131522187G>A	uc021voy.1	+	0	2542	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K	FAM123C_uc002trw.2_Missense_Mutation_p.E848K|FAM123C_uc010fmv.2_Missense_Mutation_p.E848K|FAM123C_uc010fms.1_Missense_Mutation_p.E848K|FAM123C_uc010fmt.1_Missense_Mutation_p.E848K|FAM123C_uc010fmu.1_Missense_Mutation_p.E848K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	848										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TGGCCAGCCAGAAGTGGGGGC	0.622000														24			9		0	0	0.000978159	0	0
LAMA1	284217	broad.mit.edu	37	18	6986233	6986233	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:6986233A>C	uc002knm.3	-	36	5376	c.5282T>G	c.(5281-5283)cTa>cGa	p.L1761R	LAMA1_uc010wzj.2_Missense_Mutation_p.L1237R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1761	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCGCCTTTAGTTCATTGTT	0.468000														139			27		0	0	0.0024448	0	0
KCNH6	81033	broad.mit.edu	37	17	61613053	61613053	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:61613053G>A	uc002jay.3	+	5	1205	c.1125G>A	c.(1123-1125)ttG>ttA	p.L375L	KCNH6_uc002jax.1_Silent_p.L375L|KCNH6_uc010wpl.2_Silent_p.L252L|KCNH6_uc010wpm.2_Silent_p.L375L|KCNH6_uc002jaz.1_Silent_p.L375L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	375					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TTGGGCTATTGAAGACAGCGC	0.602000														39			28		0	0	0.000491102	0	0
TRPV6	55503	broad.mit.edu	37	7	142572886	142572886	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142572886C>T	uc003wbx.2	-	8	1383	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	TRPV6_uc003wbw.1_Missense_Mutation_p.R171Q|TRPV6_uc010lou.1_Missense_Mutation_p.R256Q	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	385					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.I384I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCCGACCAGCCGGATATCGTC	0.562000														59			30		0	0	0.00058488	0	0
FAT4	79633	broad.mit.edu	37	4	126336274	126336274	+	Silent	SNP	T	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:126336274T>G	uc003ifj.4	+	4	6156	c.6156T>G	c.(6154-6156)ctT>ctG	p.L2052L	FAT4_uc011cgp.2_Silent_p.L350L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2052	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGACATTTCTTTCCCCTAAAT	0.413000														83			10		0	0	0.000673444	0	0
MMP27	64066	broad.mit.edu	37	11	102575382	102575382	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:102575382C>T	uc001phd.1	-	1	250	c.227G>A	c.(226-228)gGa>gAa	p.G76E		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	76					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GTCCAGTTTTCCAGTCACTGT	0.453000														22			8		0	0	0.000157383	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508159	14508159	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:14508159G>A	uc010heg.3	+	7	1166	c.867_splice	c.e7+1	p.Q289_splice	SLC6A6_uc003byq.3_Splice_Site_p.Q289_splice|SLC6A6_uc003byr.3_Splice_Site	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	289					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGACCCACAGGTACTGTGGGG	0.652000														90			28		0	0	0.000814825	0	0
ALKBH1	8846	broad.mit.edu	37	14	78170752	78170753	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:78170752_78170753GG>AA	uc001xuc.1	-	1	260_261	c.251_252CC>TT	c.(250-252)ccc>cTT	p.P84L		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	84					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P84P(2)		endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACTTGCTGACGGGCTGAAGACC	0.441000														124			21		0	0	6.4e-05	0	0
RIMS2	9699	broad.mit.edu	37	8	105263289	105263289	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:105263289C>T	uc003yls.3	+	26	4024	c.3783C>T	c.(3781-3783)gtC>gtT	p.V1261V	RIMS2_uc003ylp.3_Silent_p.V1243V|RIMS2_uc003ylw.2_Silent_p.V1250V|RIMS2_uc003ylq.3_Silent_p.V1057V|RIMS2_uc003ylr.3_Silent_p.V1082V	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1305	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATAACGGAGTCTGCATAGCCA	0.408000										HNSCC(12;0.0054)				32			6		0	0	0.00116845	0	0
ENPEP	2028	broad.mit.edu	37	4	111397964	111397964	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:111397964C>T	uc003iab.4	+	0	736	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	132					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CACCCGGTACCTGTGGCTGCA	0.627000														77			20		0	0	0.00121646	0	0
DNAH2	146754	broad.mit.edu	37	17	7722593	7722593	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7722593G>A	uc002giu.1	+	70	10896	c.10882G>A	c.(10882-10884)Gac>Aac	p.D3628N	DNAH2_uc010cnm.1_Missense_Mutation_p.D566N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3628					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGCTGCATCGACCCCATGTA	0.557000														44			30		0	0	0.00058488	0	0
ZNF528	84436	broad.mit.edu	37	19	52919834	52919834	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:52919834C>T	uc002pzh.3	+	6	2155	c.1729C>T	c.(1729-1731)Cat>Tat	p.H577Y	ZNF528_uc002pzi.3_Missense_Mutation_p.H344Y	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AAAGAAATCTCATGAGTGTAA	0.433000														35			20		0	0	0.00047179	0	0
DCBLD2	131566	broad.mit.edu	37	3	98538094	98538094	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:98538094C>T	uc003dte.3	-	7	1402	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	DCBLD2_uc003dtd.3_Missense_Mutation_p.E347K	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	347	F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CACTGGTATTCATCAGTGGCA	0.388000														9			4		0	0	0.00024832	0	0
SLIT2	9353	broad.mit.edu	37	4	20521064	20521064	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:20521064C>T	uc003gpr.1	+	11	1322	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLIT2_uc003gps.1_Missense_Mutation_p.S373F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	373					Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						GGACTGTTTTCCTTACAGCTC	0.313000														62			18		0	0	0.00152264	0	0
FAH	2184	broad.mit.edu	37	15	80464532	80464532	+	Silent	SNP	C	T	T	rs147016995	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:80464532C>T	uc002bfm.2	+	7	812	c.648C>T	c.(646-648)atC>atT	p.I216I	FAH_uc002bfn.2_Silent_p.I146I	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	216					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAGCCGATCCCCATTTCCA	0.507000									Tyrosinemia, type 1					101			16		0	0	0.00121646	0	0
ANK1	286	broad.mit.edu	37	8	41551532	41551532	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:41551532C>T	uc003xok.3	-	28	3500	c.3416G>A	c.(3415-3417)cGg>cAg	p.R1139Q	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R455Q|ANK1_uc003xoi.3_Missense_Mutation_p.R1139Q|ANK1_uc003xoj.3_Missense_Mutation_p.R1139Q|ANK1_uc003xol.3_Missense_Mutation_p.R1139Q|ANK1_uc003xom.3_Missense_Mutation_p.R1180Q	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1139					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1139W(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGGAACTTCCGGCGCCGGGG	0.647000														29			13		0	0	0.000566183	0	0
INTS9	55756	broad.mit.edu	37	8	28638404	28638404	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:28638404G>A	uc003xha.3	-	11	1505	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	INTS9_uc011lav.2_Silent_p.F378F|INTS9_uc011law.2_Silent_p.F381F|INTS9_uc011lax.2_Silent_p.F295F|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	402					snRNA processing	integrator complex	protein binding	p.F402F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CCACGTCCCCGAAGCGGAGGG	0.493000														46			6		0	0	0.00116845	0	0
SPINK5	11005	broad.mit.edu	37	5	147481466	147481466	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:147481466C>T	uc003lox.2	+	14	1498	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	SPINK5_uc010jgs.1_Silent_p.A447A|SPINK5_uc010jgr.2_Silent_p.A456A|SPINK5_uc003low.2_Silent_p.A475A|SPINK5_uc003loy.2_Silent_p.A475A	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	475	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTGAGGCCTTCTTGTGAG	0.473000														23			5		0	0	0.000602214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745430	140745431	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140745430_140745431CG>AT	uc003lju.2	+	0	1533_1534	c.1533_1534CG>AT	c.(1531-1536)accggt>acATgt	p.G512C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.G512C	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	514	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGACACCGGTGTCCTGTA	0.554000														199			7		0	0	6.4e-05	0	0
EPHA6	285220	broad.mit.edu	37	3	97356793	97356793	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:97356793C>T	uc010how.1	+	13	2694	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.4_Missense_Mutation_p.S276F|EPHA6_uc003drr.4_Missense_Mutation_p.S276F|EPHA6_uc003drt.3_Missense_Mutation_p.S276F|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	789	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAGTATCTTTCTGATATGGGT	0.448000														136			32		0	0	0.0024448	0	0
C15orf2	23742	broad.mit.edu	37	15	24921093	24921093	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24921093C>T	uc001ywo.3	+	0	553	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGCCCCCGCTCCCCTGTCCCG	0.701000														23			5		0	0	0.00116845	0	0
ZNF217	7764	broad.mit.edu	37	20	52198664	52198664	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:52198664G>A	uc002xwq.4	-	0	1044	c.702C>T	c.(700-702)caC>caT	p.H234H	ZNF217_uc010gij.1_Silent_p.H226H	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	234					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCACCTTGCGGTGCTCAATTA	0.522000														125			57		0	0	0.000781405	0	0
CAMK2G	818	broad.mit.edu	37	10	75576769	75576769	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:75576769G>A	uc001jvv.2	-	18	1556	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	CAMK2G_uc001jvs.2_Intron|CAMK2G_uc001jvm.2_Intron|CAMK2G_uc001jvo.2_Intron|CAMK2G_uc001jvp.2_Intron|CAMK2G_uc001jvq.2_Intron|CAMK2G_uc001jvr.2_Intron|CAMK2G_uc001jvt.2_Intron|CAMK2G_uc009xrp.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	0					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TCAGCAGCACGAACCCACTCA	0.507000														146			34		0	0	0.00170553	0	0
COL15A1	1306	broad.mit.edu	37	9	101749577	101749577	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:101749577G>A	uc004azb.1	+	4	855	c.649_splice	c.e4-1	p.G217_splice		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	217	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G217D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTCCCCAGGGCTCCCTCCAG	0.577000														113			69		0	0	0.000781405	0	0
ADCY10	55811	broad.mit.edu	37	1	167815065	167815065	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167815065C>T	uc001ger.3	-	20	3041	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	ADCY10_uc010plj.2_Missense_Mutation_p.E762K|ADCY10_uc009wvk.3_Missense_Mutation_p.E823K|ADCY10_uc009wvl.3_Missense_Mutation_p.E914K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	915					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTCTCCAGTTCACGAAGCTGT	0.498000														27			14		0	0	0.000422831	0	0
ZNF559	84527	broad.mit.edu	37	19	9449237	9449237	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9449237G>A	uc002mle.4	+	2	611	c.204G>A	c.(202-204)ggG>ggA	p.G68G	ZNF559_uc002mld.3_Silent_p.G68G|ZNF559_uc021uoj.1_Intron|ZNF559_uc010xkn.2_Intron|ZNF559_uc021uok.1_Silent_p.G4G|ZNF559_uc021uol.1_Silent_p.G4G|ZNF559_uc010dwk.2_Silent_p.G32G|ZNF559_uc002mlf.3_Silent_p.G4G|ZNF559_uc010dwl.2_Silent_p.G68G|ZNF559_uc002mlh.2_Non-coding_Transcript|ZNF559_uc021uom.1_Silent_p.G4G|ZNF177_uc002mli.3_5'UTR|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	4	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TGGTGGCTGGGTGGTTGACAA	0.378000														61			28		0	0	0.000491102	0	0
XIST	7503	broad.mit.edu	37	X	73063632	73063632	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:73063632G>A	uc004ebm.1	-	0		c.8957C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCACAGATCAGGAGCAAATGT	0.423000														20			6		0	0	0.00116845	0	0
AIRE	326	broad.mit.edu	37	21	45706459	45706459	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45706459A>T	uc002zei.2	+	1	279	c.152A>T	c.(151-153)gAa>gTa	p.E51V		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	51	HSR.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	p.E51K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CATCTGAAGGAAAAGGAGGGC	0.632000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					44			17		0	0	0.00074312	0	0
GSR	2936	broad.mit.edu	37	8	30537136	30537136	+	Silent	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30537136A>T	uc003xih.2	-	12	1604	c.1470T>A	c.(1468-1470)ggT>ggA	p.G490G	GSR_uc022ato.1_Silent_p.G437G|GSR_uc022atp.1_Silent_p.G461G|GSR_uc022atq.1_Silent_p.G408G	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	490					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CAACAGCAAAACCCTGCAGCA	0.443000														69			10		0	0	0.00185496	0	0
SLC6A11	6538	broad.mit.edu	37	3	10861198	10861198	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:10861198C>T	uc003bvz.3	+	1	339	c.305C>T	c.(304-306)cCt>cTt	p.P102L	SLC6A11_uc003bvy.1_Missense_Mutation_p.P102L	NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	102					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)		TGTGGAATTCCTGTTTTTTTC	0.433000														129			17		0	0	0.00121646	0	0
RPAP1	26015	broad.mit.edu	37	15	41827083	41827083	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:41827083G>A	uc001zod.3	-	5	716	c.592C>T	c.(592-594)Cct>Tct	p.P198S		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	198						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGCTCCCAGGAAGCTGGCAG	0.552000														48			11		0	0	0.000422831	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122964820	122964821	+	Nonsense_Mutation	DNP	GT	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:122964820_122964821GT>AA	uc001ucn.3	-	10	1212_1213	c.1056_1057AC>TT	c.(1054-1059)caacag>caTTag	p.352_353QQ>H*	ZCCHC8_uc001ucl.3_5'Flank|ZCCHC8_uc001ucm.3_Nonsense_Mutation_p.114_115QQ>H*|ZCCHC8_uc009zxp.3_Nonsense_Mutation_p.114_115QQ>H*|ZCCHC8_uc009zxq.3_Nonsense_Mutation_p.114_115QQ>H*	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	352						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTTTTATTCTGTTGTATTTCTC	0.351000														9			5		0	0	6.4e-05	0	0
CLCNKA	1187	broad.mit.edu	37	1	16355751	16355752	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:16355751_16355752GG>AT	uc001axu.3	+	11	1264_1265	c.1184_1185GG>AT	c.(1183-1185)cgg>cAT	p.R395H	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.R352H|CLCNKA_uc001axv.3_Missense_Mutation_p.R395H|CLCNKA_uc010obx.1_Missense_Mutation_p.R42H|CLCNKA_uc010oby.1_Missense_Mutation_p.V125F|CLCNKA_uc021ogl.1_Missense_Mutation_p.R42H	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	395					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TACCACCCGCGGTTCACCATCT	0.639000														64			20		0	0	6.4e-05	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703336	60703336	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:60703336G>A	uc001nqi.3	+	11	2225	c.2032_splice	c.e11-1	p.E678_splice	TMEM132A_uc001nqj.3_Splice_Site_p.E677_splice	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	677	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGCCCCACAGGAGGTGGCCCT	0.612000														106			64		0	0	0.000781405	0	0
STMN3	50861	broad.mit.edu	37	20	62275163	62275163	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:62275163G>A	uc002yfr.1	-	2	319	c.237C>T	c.(235-237)gaC>gaT	p.D79D	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	79					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CCAGGGAGGTGTCCTTCTTCT	0.632000														104			9		0	0	0.000442599	0	0
MIER2	54531	broad.mit.edu	37	19	307313	307313	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:307313G>A	uc002lok.1	-	12	1431	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCAGGGCGAAGTCCACGG	0.687000														17			10		0	0	0.00136819	0	0
C1orf173	127254	broad.mit.edu	37	1	75037778	75037778	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:75037778C>T	uc001dgg.3	-	13	3835	c.3616G>A	c.(3616-3618)Gaa>Aaa	p.E1206K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1206	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						CGGTGCCCTTCCTTCAGGGCC	0.592000														103			29		0	0	0.000491102	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74212027	74212027	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:74212027G>A	uc003ubd.1	-	15	2008	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	GTF2IRD2_uc010lbt.1_Silent_p.I155I	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcgaccagtcgatacagaact	0.517000														40			10		0	0	0.00209593	0	0
DLC1	10395	broad.mit.edu	37	8	13357009	13357009	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:13357009A>G	uc003wwm.2	-	1	1016	c.572T>C	c.(571-573)cTg>cCg	p.L191P	DLC1_uc003wwn.3_Missense_Mutation_p.L191P|DLC1_uc011kxy.2_Missense_Mutation_p.L191P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	191					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCAAAGCTCCAGGCTTTTACT	0.378000														94			40		0	0	0.00222228	0	0
CUL4A	8451	broad.mit.edu	37	13	113899533	113899533	+	Silent	SNP	C	T	T	rs141571594		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:113899533C>T	uc021rmv.1	+	13	1523	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	CUL4A_uc021rmu.1_Silent_p.I404I|CUL4A_uc010agu.3_Silent_p.I365I|CUL4A_uc010tjz.2_Silent_p.I183I	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	504					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGAAGGACATCATGGTTCATT	0.488000														39			8		0	0	0.000673444	0	0
DMXL1	1657	broad.mit.edu	37	5	118485689	118485689	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:118485689C>T	uc010jcl.1	+	17	4348	c.4167C>T	c.(4165-4167)ttC>ttT	p.F1389F	DMXL1_uc003ksd.2_Silent_p.F1389F|DMXL1_uc021ycw.1_Silent_p.F1216F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1389										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCCAGGCATTCAACAAGGCTG	0.433000														20			5		0	0	0.00198382	0	0
CCNA1	8900	broad.mit.edu	37	13	37014135	37014135	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:37014135C>T	uc001uvr.4	+	5	1263	c.913C>T	c.(913-915)Cct>Tct	p.P305S	CCNA1_uc010teo.2_Missense_Mutation_p.P261S|CCNA1_uc010abq.3_Missense_Mutation_p.P261S|CCNA1_uc010abp.3_Missense_Mutation_p.P261S|CCNA1_uc001uvs.4_Missense_Mutation_p.P304S|CCNA1_uc010abr.3_Intron	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	305					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGAGATATATCCTCCTGAAGT	0.403000														23			5		0	0	0.00116845	0	0
RGS12	6002	broad.mit.edu	37	4	3319322	3319322	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:3319322C>T	uc003ggw.3	+	1	2329	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	RGS12_uc003ggu.2_Silent_p.P475P|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.P475P|RGS12_uc003ggx.1_Silent_p.P475P	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	475						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGACTGGGCCCTTCTGTCCGG	0.682000														80			15		0	0	0.000308642	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355301	42355301	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:42355301C>T	uc002xld.3	-	0	342	c.34G>A	c.(34-36)Gat>Aat	p.D12N	GTSF1L_uc002xlc.3_Missense_Mutation_p.D12N	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	12							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGTGAGGATCATAAGGGCAA	0.483000														158			47		0	0	0.000781405	0	0
NFX1	4799	broad.mit.edu	37	9	33294735	33294735	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:33294735C>A	uc003zsr.3	+	1	496	c.343C>A	c.(343-345)Cat>Aat	p.H115N	NFX1_uc011lnw.2_Missense_Mutation_p.H115N|NFX1_uc003zso.3_Missense_Mutation_p.H115N|NFX1_uc003zsp.2_Missense_Mutation_p.H115N|NFX1_uc010mjr.2_Missense_Mutation_p.H115N|NFX1_uc003zsq.3_Missense_Mutation_p.H115N	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	115					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGAGAAGCACCATATCAGAGT	0.488000														130			8		0.000157383	0.000744989	0.000157383	1	0
ELAVL2	1993	broad.mit.edu	37	9	23704966	23704966	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:23704966G>A	uc003zpu.3	-	3	712	c.437C>T	c.(436-438)tCa>tTa	p.S146L	ELAVL2_uc003zps.3_Missense_Mutation_p.S146L|ELAVL2_uc003zpt.3_Missense_Mutation_p.S146L|ELAVL2_uc003zpv.3_Missense_Mutation_p.S146L|ELAVL2_uc003zpw.3_Missense_Mutation_p.S146L	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	146	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCCATATTGTGAAAAAAGCTG	0.448000														74			13		0	0	0.000422831	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991348	39991348	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:39991348C>T	uc002xjy.1	-	3	1085	c.861G>A	c.(859-861)cgG>cgA	p.R287R		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	287						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GTGGGGCTTCCCGCAGCCGCT	0.642000														33			8		0	0	0.000157383	0	0
LTBP1	4052	broad.mit.edu	37	2	33518330	33518330	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:33518330G>A	uc021vft.1	+	19	3239	c.3216G>A	c.(3214-3216)ccG>ccA	p.P1072P	LTBP1_uc002rou.3_Silent_p.P746P|LTBP1_uc002rov.3_Silent_p.P693P|LTBP1_uc010ymz.2_Silent_p.P746P|LTBP1_uc010yna.2_Silent_p.P693P|LTBP1_uc010ynb.2_Silent_p.P12P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1072	EGF-like 8; calcium-binding (Potential).				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)				CCCGGACTCCGGACCACAAGC	0.423000														46			8		0	0	0.000673444	0	0
COL8A1	1295	broad.mit.edu	37	3	99513116	99513116	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:99513116G>A	uc003dti.1	+	2	502	c.374G>A	c.(373-375)gGa>gAa	p.G125E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G124E|COL8A1_uc003dth.1_Missense_Mutation_p.G124E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	124	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTCCCCGTGGAGAGCCTGGC	0.532000														24			10		0	0	0.00136819	0	0
FGF13	2258	broad.mit.edu	37	X	137717816	137717816	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:137717816C>T	uc004fam.3	-	4	1065	c.403_splice	c.e4-1	p.E135_splice	FGF13_uc004fan.3_Splice_Site_p.E82_splice|FGF13_uc011mwi.2_Splice_Site_p.E116_splice|FGF13_uc004faq.3_Splice_Site_p.E145_splice|FGF13_uc004far.3_Splice_Site_p.E116_splice|FGF13_uc011mwj.2_Splice_Site_p.E145_splice|FGF13_uc011mwk.2_Splice_Site_p.E89_splice	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	135					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GTGAAAAGTTCCTGCAACAAA	0.348000														5			6		0	0	0.00116845	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	199656	199656	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrGL000192.1:199656C>T	uc010yii.1	-	6	985	c.764G>A	c.(763-765)gGg>gAg	p.G255E	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	1953										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)				GACAGAGATCCCTCGGCTCAG	0.498000														21			10		0	0	0.000308642	0	0
FADS2	9415	broad.mit.edu	37	11	61607868	61607868	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61607868G>A	uc001nsl.1	+	2	531	c.381G>A	c.(379-381)aaG>aaA	p.K127K	FADS2_uc001nsj.2_Silent_p.K105K|FADS2_uc010rlo.1_Silent_p.K96K|FADS2_uc001nsk.3_Silent_p.K127K	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	127					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCTGTTCAAGACCAACCACG	0.532000														84			62		0	0	0.000781405	0	0
ITIH2	3698	broad.mit.edu	37	10	7774362	7774362	+	Missense_Mutation	SNP	C	T	T	rs150529114		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:7774362C>T	uc001ijs.3	+	13	1871	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	570					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S570L(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTTCTATCGAAAGACAAG	0.488000														46			19		0	0	0.00152264	0	0
MUC13	56667	broad.mit.edu	37	3	124642388	124642388	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:124642388G>A	uc003ehq.2	-	2	659	c.620C>T	c.(619-621)tCt>tTt	p.S207F		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	207	EGF-like 1.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTTACATGTAGAAGAGTTGTA	0.398000														49			12		0	0	0.000308642	0	0
CLCN1	1180	broad.mit.edu	37	7	143013335	143013335	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143013335G>A	uc003wcr.1	+	0	117	c.30G>A	c.(28-30)ggG>ggA	p.G10G	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	10					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGCAGCGTGGGGGTGAACAAA	0.622000														32			23		0	0	0.00229938	0	0
ZNF695	57116	broad.mit.edu	37	1	247151033	247151033	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:247151033G>A	uc009xgu.3	-	3	969	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	262					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)			TTTTCAGTATGATTTTTCTCA	0.338000														47			18		0	0	0.000958276	0	0
abParts	0	broad.mit.edu	37	14	106994058	106994058	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106994058G>A	uc021ser.1	-	233		c.9196C>T								Parts of antibodies, mostly variable regions.																		GAGTCTCAGGGACCCCCCAGG	0.577000														67			17		0	0	0.000566183	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418273	105418273	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:105418273G>A	uc010axc.1	-	6	3635	c.3515C>T	c.(3514-3516)tCg>tTg	p.S1172L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S1072L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1172						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCCCCGAACGATGGCATCTT	0.612000														160			52		0	0	0.000781405	0	0
GRB10	2887	broad.mit.edu	37	7	50672025	50672025	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:50672025G>A	uc003tpi.2	-	12	1485	c.1439C>T	c.(1438-1440)cCt>cTt	p.P480L	GRB10_uc003tph.3_Missense_Mutation_p.P422L|GRB10_uc003tpj.2_Missense_Mutation_p.P434L|GRB10_uc003tpk.2_Missense_Mutation_p.P480L|GRB10_uc010kzb.2_Missense_Mutation_p.P422L|GRB10_uc003tpl.2_Missense_Mutation_p.P474L|GRB10_uc003tpm.2_Missense_Mutation_p.P422L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	480					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TAGGGTAGAAGGGTGGAGGGG	0.493000									Russell-Silver syndrome					87			33		0	0	0.00128727	0	0
PTPN11	5781	broad.mit.edu	37	12	112924331	112924331	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:112924331A>T	uc001ttx.3	+	10	1657	c.1277A>T	c.(1276-1278)cAc>cTc	p.H426L	PTPN11_uc001ttw.1_Missense_Mutation_p.H426L	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	430	Tyrosine-protein phosphatase.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TGGCCGGACCACGGCGTGCCC	0.567000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					36			14		0	0	0.000308642	0	0
ABCA8	10351	broad.mit.edu	37	17	66898931	66898931	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:66898931G>A	uc002jhq.3	-	20	3027	c.2687C>T	c.(2686-2688)tCt>tTt	p.S896F	ABCA8_uc002jhp.3_Missense_Mutation_p.S856F|ABCA8_uc010wqq.2_Missense_Mutation_p.S896F|ABCA8_uc010wqr.2_Missense_Mutation_p.S835F|ABCA8_uc002jhr.3_Missense_Mutation_p.S896F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	856						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q895H(2)|p.Q895Q(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAAATGAGGAGAAAGTTCCCA	0.383000														44			31		0	0	0.00178596	0	0
CGN	57530	broad.mit.edu	37	1	151491794	151491794	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:151491794C>T	uc009wmw.3	+	1	943	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	261	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAGCCGTTCTCGTCAGACTCA	0.582000														48			6		0	0	0.00116845	0	0
PRIC285	85441	broad.mit.edu	37	20	62201921	62201921	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:62201921G>A	uc002yfm.2	-	3	1398	c.506C>T	c.(505-507)cCc>cTc	p.P169L	PRIC285_uc002yfl.1_5'Flank|PRIC285_uc002yfn.2_Missense_Mutation_p.P169L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	169					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GTACATCAGGGGCTGGTTGCA	0.632000														69			11		0	0	0.00136819	0	0
FRMD7	90167	broad.mit.edu	37	X	131228089	131228089	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:131228089C>T	uc004ewn.3	-	4	541	c.363G>A	c.(361-363)atG>atA	p.M121I	FRMD7_uc022cdy.1_Missense_Mutation_p.M1I|FRMD7_uc011muy.2_Missense_Mutation_p.M106I	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	121	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGTGAGATACCATCAACGCTG	0.443000														37			24		0	0	0.00178596	0	0
DNAH9	1770	broad.mit.edu	37	17	11687023	11687023	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:11687023G>A	uc002gne.3	+	39	7847	c.7779G>A	c.(7777-7779)atG>atA	p.M2593I	DNAH9_uc010coo.3_Missense_Mutation_p.M1887I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2593	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTCCTGTATGAACCCCACGG	0.522000														35			13		0	0	0.000308642	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901664	2901664	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:2901664C>T	uc010ckd.3	+	13	1284	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	RAP1GAP2_uc010cke.3_Silent_p.S383S	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	398	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						AGACCCCATCCTACAAGGTAA	0.542000														41			26		0	0	0.001512	0	0
WWC1	23286	broad.mit.edu	37	5	167850856	167850856	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:167850856G>A	uc003lzu.3	+	10	1686	c.1593G>A	c.(1591-1593)atG>atA	p.M531I	WWC1_uc003lzv.3_Missense_Mutation_p.M531I|WWC1_uc011den.2_Missense_Mutation_p.M531I|WWC1_uc003lzw.3_Missense_Mutation_p.M330I	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	531					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAAAGTCCATGACCTCCCTAT	0.632000														29			6		0	0	0.00116845	0	0
CD300LF	146722	broad.mit.edu	37	17	72692343	72692343	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:72692343G>A	uc002jlg.3	-	4	676	c.573C>T	c.(571-573)tcC>tcT	p.S191S	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Silent_p.S194S|CD300LF_uc010dfw.3_Intron|CD300LF_uc002jlh.3_Missense_Mutation_p.P207S|CD300LF_uc002jli.3_Missense_Mutation_p.P157S|CD300LF_uc010wra.2_Silent_p.S206S|CD300LF_uc002jlj.1_Intron	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	191						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTGCTCTGGGGACATCCCGG	0.488000														69			36		0	0	0.00170553	0	0
VPREB1	7441	broad.mit.edu	37	22	22599458	22599458	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:22599458C>T	uc002zvx.1	+	1	173	c.147C>T	c.(145-147)atC>atT	p.I49I	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	49	Complementarity-determining-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGACATCGGTGTGTACA	0.617000														94			42		0	0	0.000781405	0	0
CAMK2B	816	broad.mit.edu	37	7	44281908	44281908	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:44281908G>A	uc003tkq.2	-	9	938	c.728C>T	c.(727-729)cCt>cTt	p.P243L	CAMK2B_uc003tkp.2_Missense_Mutation_p.P243L|CAMK2B_uc003tkr.2_Missense_Mutation_p.P243L|CAMK2B_uc003tks.2_Missense_Mutation_p.P243L|CAMK2B_uc003tku.2_Missense_Mutation_p.P243L|CAMK2B_uc003tkv.2_Missense_Mutation_p.P243L|CAMK2B_uc003tkt.2_Missense_Mutation_p.P243L|CAMK2B_uc003tkw.2_Missense_Mutation_p.P243L|CAMK2B_uc010kyc.2_Missense_Mutation_p.P243L	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	243	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TTTGGCTTCAGGAGTGACGGT	0.612000														77			32		0	0	0.000953801	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626583	80626583	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:80626583G>A	uc003pja.4	-	5	1006	c.687C>T	c.(685-687)acC>acT	p.T229T	ELOVL4_uc011dyt.2_Non-coding_Transcript	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	229					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TGTGCCCAATGGTCACATGGA	0.403000														25			17		0	0	0.00074312	0	0
ABCD2	225	broad.mit.edu	37	12	40012889	40012889	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:40012889T>C	uc001rmb.2	-	0	955	c.529A>G	c.(529-531)Act>Gct	p.T177A		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	177	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ACTAGGCGAGTTCTGAAGGCC	0.423000														66			26		0	0	0.00209593	0	0
ADAM12	8038	broad.mit.edu	37	10	127760159	127760159	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:127760159C>T	uc001ljk.2	-	11	1632	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R	ADAM12_uc010qul.1_Missense_Mutation_p.G358R|ADAM12_uc001ljm.3_Missense_Mutation_p.G407R|ADAM12_uc001ljn.3_Missense_Mutation_p.G404R|ADAM12_uc001ljl.4_Missense_Mutation_p.G404R	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	407	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACCCCCATTCCTTTCTCCAGG	0.542000														41			11		0	0	0.000673444	0	0
ZNF343	79175	broad.mit.edu	37	20	2464423	2464423	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:2464423G>A	uc002wge.1	-	5	1672	c.1184C>T	c.(1183-1185)aCc>aTc	p.T395I	ZNF343_uc010gao.1_Missense_Mutation_p.T395I|ZNF343_uc002wgd.1_Missense_Mutation_p.T305I	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TTTTCTGAGGGTTGACTTATC	0.498000														28			8		0	0	0.000274275	0	0
APOBR	55911	broad.mit.edu	37	16	28507203	28507203	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:28507203G>A	uc002dqb.2	+	1	874	c.841G>A	c.(841-843)Gag>Aag	p.E281K	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Intron	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	281	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CTTAGGCAGAGAGGAGGCCAG	0.612000														24			6		0	0	0.00198382	0	0
ABCC3	8714	broad.mit.edu	37	17	48750896	48750896	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:48750896G>A	uc002isl.3	+	18	2556	c.2476G>A	c.(2476-2478)Gat>Aat	p.D826N		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	826	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGTGCTAGCTGATGGACAGGT	0.597000														34			22		0	0	0.000586117	0	0
GALNTL1	57452	broad.mit.edu	37	14	69787435	69787435	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:69787435G>A	uc001xlb.2	+	1	512	c.185G>A	c.(184-186)gGa>gAa	p.G62E	GALNTL1_uc001xla.2_Missense_Mutation_p.G62E|GALNTL1_uc010aqu.2_Missense_Mutation_p.G62E	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	62						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		CAGGTGACAGGAACTCCCTCG	0.607000														96			13		0	0	0.00074312	0	0
C15orf2	23742	broad.mit.edu	37	15	24922235	24922235	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24922235C>T	uc001ywo.3	+	0	1695	c.1221C>T	c.(1219-1221)acC>acT	p.T407T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	407	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTGTGCAGACCACAGACTCCC	0.532000														40			5		0	0	0.000602214	0	0
EMR3	84658	broad.mit.edu	37	19	14752363	14752363	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14752363G>A	uc002mzi.4	-	9	1264	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	EMR3_uc010dzp.3_Silent_p.L320L|EMR3_uc010xnv.2_Silent_p.L246L	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	372					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGGCCGCCAGGAGGAGGCACA	0.577000														44			9		0	0	0.000673444	0	0
ZNF341	84905	broad.mit.edu	37	20	32332928	32332928	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:32332928C>T	uc002wzy.3	+	2	182	c.162C>T	c.(160-162)ctC>ctT	p.L54L	ZNF341_uc002wzx.3_Silent_p.L54L|ZNF341_uc010geq.3_Intron|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ATGTATTTCTCTGCGGGAAGT	0.517000														100			26		0	0	0.001512	0	0
SAMD8	142891	broad.mit.edu	37	10	76910469	76910469	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:76910469C>T	uc001jwx.2	+	1	286	c.183C>T	c.(181-183)gtC>gtT	p.V61V	SAMD8_uc001jwy.2_Silent_p.V61V	NM_001174156	NP_001167627	Q96LT4	SAMD8_HUMAN	Homo sapiens sterile alpha motif domain containing 8 (SAMD8), transcript variant 1, mRNA.	61	SAM.				sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AAATCAAAGTCTTAGGGGACA	0.393000														68			17		0	0	0.00152264	0	0
MYH6	4624	broad.mit.edu	37	14	23857379	23857379	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23857379C>T	uc001wjv.3	-	29	4415	c.4344G>A	c.(4342-4344)caG>caA	p.Q1448Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1448					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAAAGTTTCTCTGCTTCTTGT	0.587000														131			27		0	0	0.000878237	0	0
ZFP14	57677	broad.mit.edu	37	19	36831980	36831980	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:36831980G>A	uc010xtd.2	-	3	830	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	ZFP14_uc010eex.2_Missense_Mutation_p.H250Y	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)					TCACCCGTATGAAGTCTCTGA	0.448000														36			13		0	0	0.000219431	0	0
TRPM7	54822	broad.mit.edu	37	15	50902009	50902010	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50902009_50902010GA>AT	uc001zyt.4	-	17	2711_2712	c.2429_2430TC>AT	c.(2428-2430)atc>aAT	p.I810N	TRPM7_uc010bew.2_Missense_Mutation_p.I810N|TRPM7_uc001zyu.3_Missense_Mutation_p.I368N	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	810					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTACCATGGGGATCTCTTCTGT	0.312000														78			8		0	0	6.4e-05	0	0
NUP210L	91181	broad.mit.edu	37	1	153999992	153999992	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:153999992G>A	uc001fdw.3	-	28	4009	c.3937C>T	c.(3937-3939)Cat>Tat	p.H1313Y	NUP210L_uc009woq.3_Missense_Mutation_p.H222Y|NUP210L_uc010peh.2_Missense_Mutation_p.H1313Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1313						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)			CTGTTGGTATGGAGTTTGAGC	0.373000														74			28		0	0	0.001512	0	0
E2F8	79733	broad.mit.edu	37	11	19251050	19251050	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:19251050G>A	uc001mpm.3	-	9	2366	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Missense_Mutation_p.S615F	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	615					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCTTTTTGGAACCACTGTC	0.483000														121			61		0	0	0.000781405	0	0
TUBD1	51174	broad.mit.edu	37	17	57963527	57963527	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:57963527C>T	uc002ixw.2	-	2	525	c.237G>A	c.(235-237)aaG>aaA	p.K79K	TUBD1_uc010wok.2_Silent_p.K79K|TUBD1_uc010ddf.2_Silent_p.K79K|TUBD1_uc010wol.2_Intron|TUBD1_uc010ddg.2_Silent_p.K44K|TUBD1_uc010ddi.2_Intron|TUBD1_uc010ddh.2_5'UTR|TUBD1_uc002ixx.2_Silent_p.K79K	NM_016261	NP_001180542	Q9UJT1	TBD_HUMAN	Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA.	79					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ACTGGGCAGCCTTTGACAGCA	0.423000														57			38		0	0	0.00128727	0	0
NPC1L1	29881	broad.mit.edu	37	7	44571777	44571777	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:44571777C>T	uc003tlb.3	-	8	2505	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	NPC1L1_uc011kbw.2_Missense_Mutation_p.E817K|NPC1L1_uc003tlc.3_Missense_Mutation_p.E817K	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	817					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGGGGCAGCTCCTGGGGCTTG	0.642000														98			20		0	0	0.00229938	0	0
SPDYE6	729597	broad.mit.edu	37	7	101989086	101989086	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:101989086C>T	uc011kkp.2	-	5	1208	c.787G>A	c.(787-789)Gag>Aag	p.E263K	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	263																	TTGGAGTCCTCGTCGTCCTCC	0.547000														381			13		0	0	0.000720815	0	0
DNAH5	1767	broad.mit.edu	37	5	13850833	13850833	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:13850833C>T	uc003jfd.2	-	30	5084	c.5042G>A	c.(5041-5043)gGa>gAa	p.G1681E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1681	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCTCATCTCCAACACAGCA	0.478000									Kartagener syndrome					37			7		0	0	0.00198382	0	0
FCGR2A	2212	broad.mit.edu	37	1	161487906	161487906	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:161487906C>T	uc001gan.3	+	6	975	c.922C>T	c.(922-924)Cct>Tct	p.P308S	FCGR2A_uc001gam.3_Missense_Mutation_p.P307S|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	308						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGACTCTTCCTCCCAACGA	0.448000														78			18		0	0	0.00188189	0	0
OR56A3	390083	broad.mit.edu	37	11	5968724	5968725	+	Nonsense_Mutation	DNP	CT	TA	TA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:5968724_5968725CT>TA	uc010qzt.2	+	0	148_149	c.148_149CT>TA	c.(148-150)ctg>TAg	p.L50*		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCACCCTCCTGATGACCATC	0.609000														61			15		0	0	6.4e-05	0	0
PATL1	219988	broad.mit.edu	37	11	59423975	59423975	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:59423975G>A	uc001noe.4	-	5	863	c.720C>T	c.(718-720)gtC>gtT	p.V240V	PATL1_uc009yms.1_Silent_p.V240V|PATL1_uc010rkw.2_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	240	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GACATACCGGGACACTGCAGA	0.458000														22			10		0	0	0.000673444	0	0
CRB1	23418	broad.mit.edu	37	1	197390134	197390134	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:197390134C>T	uc001gtz.3	+	5	1385	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	CRB1_uc010poz.2_Silent_p.I323I|CRB1_uc009wza.3_Silent_p.I280I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.I392I|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Silent_p.I41I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	392	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAACAGGAATCCACTGCGAAG	0.348000														70			19		0	0	0.00152264	0	0
HCFC1	3054	broad.mit.edu	37	X	153219121	153219121	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153219121G>A	uc004fjp.3	-	17	4962	c.4434C>T	c.(4432-4434)tcC>tcT	p.S1478S		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1478					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGTCAGTGTGGAGGACACGG	0.672000														18			20		0	0	0.00188189	0	0
SCN5A	6331	broad.mit.edu	37	3	38622542	38622542	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38622542C>T	uc021wvo.1	-	15	3160	c.3108G>A	c.(3106-3108)caG>caA	p.Q1036Q	SCN5A_uc021wvk.1_Silent_p.Q1036Q|SCN5A_uc021wvl.1_Silent_p.Q1036Q|SCN5A_uc021wvm.1_Silent_p.Q1036Q|SCN5A_uc021wvn.1_Silent_p.Q1036Q|SCN5A_uc021wvp.1_Silent_p.Q1036Q|SCN5A_uc021wvq.1_Silent_p.Q1036Q|SCN5A_uc021wvr.1_Silent_p.Q1036Q|SCN5A_uc021wvs.1_Silent_p.Q1036Q|SCN5A_uc021wvt.1_Silent_p.Q1036Q|SCN5A_uc021wvu.1_Silent_p.Q1036Q|SCN5A_uc021wvv.1_Silent_p.Q1036Q|SCN5A_uc021wvj.1_Silent_p.Q902Q|SCN5A_uc021wvi.1_Silent_p.Q902Q|SCN5A_uc021wvw.1_Silent_p.Q647Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1036					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGGGGTGCCCTGGCCTGGTT	0.642000														43			18		0	0	0.000958276	0	0
IL27RA	9466	broad.mit.edu	37	19	14163023	14163023	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14163023C>T	uc002mxx.3	+	13	2255	c.1832C>T	c.(1831-1833)tCt>tTt	p.S611F		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	611					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCGCTTGACTCTGGGTATGAG	0.677000														20			8		0	0	0.000673444	0	0
PLA2G6	8398	broad.mit.edu	37	22	38536077	38536078	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:38536077_38536078GG>AA	uc003auy.1	-	4	844_845	c.708_709CC>TT	c.(706-711)gtccgc>gtTTgc	p.R237C	PLA2G6_uc003auz.1_Missense_Mutation_p.R237C|PLA2G6_uc003ava.1_Missense_Mutation_p.R237C|PLA2G6_uc003avb.2_Missense_Mutation_p.R237C|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Intron	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	237					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCAGCACGCGGACCATCTCCT	0.609000														41			11		0	0	6.4e-05	0	0
CACNA1E	777	broad.mit.edu	37	1	181754860	181754860	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:181754860C>T	uc009wxt.3	+	42	5886	c.5691C>T	c.(5689-5691)ccC>ccT	p.P1897P	CACNA1E_uc001gow.3_Silent_p.P1897P|CACNA1E_uc009wxs.3_Silent_p.P1878P	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1897					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1897S(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAATGCCCCCATGTTCCAGC	0.478000														137			58		0	0	0.000781405	0	0
HSF1	3297	broad.mit.edu	37	8	145535066	145535066	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:145535066G>C	uc003zbt.4	+	5	794	c.624G>C	c.(622-624)aaG>aaC	p.K208N	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	208						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGAAGAGAAAGATGTGAGGTT	0.622000														78			18		0	0	0.000375601	0	0
OR2F2	135948	broad.mit.edu	37	7	143633090	143633090	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143633090G>A	uc011ktv.2	+	0	765	c.765G>A	c.(763-765)acG>acA	p.T255T		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACGGCACAACGATTTTCACTT	0.512000														79			24		0	0	0.00106085	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678030	25678030	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:25678030C>T	uc003grr.3	+	12	1813	c.1732C>T	c.(1732-1734)Cgc>Tgc	p.R578C	SLC34A2_uc003grs.3_Missense_Mutation_p.R577C|SLC34A2_uc010iev.3_Missense_Mutation_p.R577C	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	578					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)				CCTGCAGTCTCGCTGCCCACG	0.627000			T	ROS1	NSCLC									103			28		0	0	0.000953801	0	0
FBN3	84467	broad.mit.edu	37	19	8176063	8176063	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8176063C>T	uc002mjf.3	-	31	4106	c.4089G>A	c.(4087-4089)agG>agA	p.R1363R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1363	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACATTCATCCCTGTCTGAGG	0.637000														33			14		0	0	0.000422831	0	0
MTF1	4520	broad.mit.edu	37	1	38288311	38288311	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:38288311A>C	uc001cce.1	-	8	1390	c.1249T>G	c.(1249-1251)Tta>Gta	p.L417V	MTF1_uc009vvj.1_Missense_Mutation_p.L108V	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	417						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAAGAGATAAAGATGCTGAA	0.512000														120			22		0	0	0.000720815	0	0
CLASP1	23332	broad.mit.edu	37	2	122227479	122227479	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:122227479G>A	uc002tnc.3	-	8	1160	c.770C>T	c.(769-771)tCt>tTt	p.S257F	CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.S257F|CLASP1_uc010yza.2_Missense_Mutation_p.S257F|CLASP1_uc021vnl.1_Missense_Mutation_p.S257F|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.S257F	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	257					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGATGATGTAGAACTAGCAGA	0.443000														69			20		0	0	0.00047179	0	0
GLRA4	441509	broad.mit.edu	37	X	102974059	102974059	+	Missense_Mutation	SNP	G	A	A	rs111758425		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:102974059G>A	uc011mse.2	-	6	1280	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C	GLRA4_uc010nou.2_Missense_Mutation_p.R287C	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	287						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R287S(3)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGGCCCACACGGGCAGGGGCA	0.577000														27			20		0	0	0.000958276	0	0
PDE11A	50940	broad.mit.edu	37	2	178879164	178879164	+	Silent	SNP	G	A	A	rs144284382		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:178879164G>A	uc002ulq.3	-	1	1254	c.936C>T	c.(934-936)atC>atT	p.I312I	PDE11A_uc002ulr.3_Silent_p.I62I|PDE11A_uc002ult.1_Silent_p.I62I	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	312	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.I312I(2)|p.I62I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTAGCTTGTCGATTTCATCAT	0.393000									Primary Pigmented Nodular Adrenocortical Disease, Familial					32			11		0	0	0.000978159	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141419	143141419	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143141419C>T	uc011ktg.2	+	0	874	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	292					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGCAGCAGTTCACCCCATCAT	0.488000														108			35		0	0	0.000814825	0	0
SUSD2	56241	broad.mit.edu	37	22	24584023	24584023	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:24584023G>A	uc002zzn.1	+	12	2305	c.2261G>A	c.(2260-2262)gGc>gAc	p.G754D		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	754	Sushi.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TGTGACAACGGCTACAGCCTG	0.637000														107			46		0	0	0.000781405	0	0
HLCS	3141	broad.mit.edu	37	21	38132112	38132112	+	Missense_Mutation	SNP	C	T	T	rs119103228		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:38132112C>T	uc010gnb.3	-	9	3125	c.1711G>A	c.(1711-1713)Gat>Aat	p.D571N	HLCS_uc021wjb.1_Missense_Mutation_p.D571N|HLCS_uc002yvs.3_Missense_Mutation_p.D571N	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	571			D -> N (in HLCS deficiency; almost no activity).		cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TAATAAATATCGTTGGGCCAC	0.418000														111			23		0	0	0.000720815	0	0
DSEL	92126	broad.mit.edu	37	18	65181576	65181576	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:65181576G>A	uc002lke.1	-	1	1524	c.300C>T	c.(298-300)atC>atT	p.I100I	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Silent_p.I100I	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	90						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTGCACTTCTGATAGCTCTAA	0.398000														88			9		0	0	0.000673444	0	0
POLR3A	11128	broad.mit.edu	37	10	79785499	79785499	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:79785499G>A	uc001jzn.3	-	2	332	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	67					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCACATGGACGATCCTTCTCA	0.502000														63			13		0	0	0.000219431	0	0
ZNF69	7620	broad.mit.edu	37	19	12014453	12014453	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:12014453T>C	uc002mst.4	+	1	156	c.87T>C	c.(85-87)atT>atC	p.I29I		NM_021915	NP_068734	Q9UC07	ZNF69_HUMAN	Homo sapiens zinc finger protein 69 (ZNF69), mRNA.	43	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		TGCTGGATATTTCCCAGAGGA	0.478000														89			18		0	0	0.00121646	0	0
CLMN	79789	broad.mit.edu	37	14	95658023	95658023	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95658023G>A	uc001yef.2	-	12	3003	c.2887C>T	c.(2887-2889)Ccg>Tcg	p.P963S		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	963			P -> L (in dbSNP:rs10149705).			integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCACTCTGCGGGCTGTGGCTC	0.532000														66			11		0	0	0.000219431	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61665766	61665766	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61665766A>T	uc001nso.3	-	9	1291	c.1133T>A	c.(1132-1134)tTc>tAc	p.F378Y	RAB3IL1_uc001nsp.3_Missense_Mutation_p.F352Y	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	Homo sapiens RAB3A interacting protein (rabin3)-like 1 (RAB3IL1), mRNA.	378							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CTCCTGGGGGAAGAAGCCGAG	0.632000											OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		145			62		0	0	0.000781405	0	0
DPH5	51611	broad.mit.edu	37	1	101479281	101479281	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:101479281G>A	uc001dts.2	-	3	501	c.354C>T	c.(352-354)ggC>ggT	p.G118G	DPH5_uc001dtr.2_Silent_p.G118G|DPH5_uc001dtt.2_Silent_p.G118G|DPH5_uc001dtw.2_Non-coding_Transcript|DPH5_uc001dty.2_Intron|DPH5_uc001dtq.2_Intron|DPH5_uc001dtz.2_Non-coding_Transcript	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	Homo sapiens DPH5 homolog (S. cerevisiae) (DPH5), transcript variant 2, mRNA.	118					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AACCACAGCAGCCTACAGCAT	0.343000														79			71		0	0	0.000781405	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475253	42475253	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:42475253G>A	uc002igw.2	-	7	4411	c.4192C>T	c.(4192-4194)Cat>Tat	p.H1398Y	GPATCH8_uc002igv.2_Missense_Mutation_p.H1320Y|GPATCH8_uc010wiz.2_Missense_Mutation_p.H1320Y	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1398						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGTTGGGGATGGGGGTGAGGG	0.582000														23			13		0	0	0.00185496	0	0
ZFP106	64397	broad.mit.edu	37	15	42740572	42740573	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:42740572_42740573GG>AA	uc001zpw.3	-	2	3090_3091	c.2763_2764CC>TT	c.(2761-2766)ctccga>ctTTga	p.R922*	ZFP106_uc001zpu.3_Nonsense_Mutation_p.R107*|ZFP106_uc001zpv.3_Nonsense_Mutation_p.R107*|ZFP106_uc001zpx.3_Nonsense_Mutation_p.R150*|ZFP106_uc010udh.1_Nonsense_Mutation_p.R705*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	922						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TCACCTGTTCGGAGGGAGGCAG	0.480000														90			17		0	0	6.4e-05	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44360113	44360113	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:44360113C>T	uc001ckb.3	+	6	745	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	ST3GAL3_uc009vwu.1_Non-coding_Transcript|ST3GAL3_uc010okj.1_Non-coding_Transcript|ST3GAL3_uc001cjz.3_Missense_Mutation_p.R136W|ST3GAL3_uc001cka.3_Missense_Mutation_p.R105W|ST3GAL3_uc001ckc.3_Missense_Mutation_p.R121W|ST3GAL3_uc001ckd.3_Missense_Mutation_p.R175W|ST3GAL3_uc001cke.3_Missense_Mutation_p.R105W|ST3GAL3_uc001ckf.3_Missense_Mutation_p.R159W|ST3GAL3_uc001ckg.3_Missense_Mutation_p.R121W|ST3GAL3_uc001ckh.3_Missense_Mutation_p.R136W|ST3GAL3_uc001cki.3_Missense_Mutation_p.R121W|ST3GAL3_uc009vwx.3_Non-coding_Transcript|ST3GAL3_uc009vwz.3_Silent_p.S10S|ST3GAL3_uc001ckm.3_Missense_Mutation_p.R120W|ST3GAL3_uc001ckn.3_Non-coding_Transcript|ST3GAL3_uc001cko.3_Missense_Mutation_p.R105W|ST3GAL3_uc001ckp.3_Missense_Mutation_p.R120W|ST3GAL3_uc009vxa.3_5'UTR|ST3GAL3_uc001ckq.3_Missense_Mutation_p.R105W|ST3GAL3_uc001ckr.3_Missense_Mutation_p.R74W|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Missense_Mutation_p.R121W|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Missense_Mutation_p.R90W|ST3GAL3_uc009vwy.3_Missense_Mutation_p.R27W|ST3GAL3_uc001ckl.3_Missense_Mutation_p.R121W	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	121					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	p.R190W(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GGCTAGAATCCGGGAGTTCGT	0.512000														193			88		0	0	0.000781405	0	0
PKP3	11187	broad.mit.edu	37	11	403636	403636	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:403636C>T	uc021qbk.1	+	10	2016	c.1987C>T	c.(1987-1989)Cgc>Tgc	p.R663C	PKP3_uc001lpc.3_Missense_Mutation_p.R648C	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	648					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		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)		GGTGCTGAGCCGCCTGGCCCT	0.677000														59			8		0	0	0.000442599	0	0
MSR1	4481	broad.mit.edu	37	8	16001091	16001091	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:16001091C>T	uc010lsu.3	-	7	1127	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	MSR1_uc003wwz.3_Missense_Mutation_p.E337K|MSR1_uc003wxa.3_Missense_Mutation_p.E337K|MSR1_uc003wxb.3_Missense_Mutation_p.E337K|MSR1_uc011kxz.2_Missense_Mutation_p.E111K	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	337	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCCCCTTTTCCCCTTTCTGG	0.348000														40			14		0	0	0.000422831	0	0
NAP1L4	4676	broad.mit.edu	37	11	2981045	2981045	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:2981045G>C	uc010qxm.2	-	9	985	c.701C>G	c.(700-702)gCt>gGt	p.A234G	NAP1L4_uc001lxc.3_Missense_Mutation_p.A234G|NAP1L4_uc010qxn.2_Missense_Mutation_p.A234G	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	234					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AAAGGGATCAGCCTTATCTGG	0.368000														415			31		0	0	0.000692331	0	0
OXSM	54995	broad.mit.edu	37	3	25832607	25832607	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:25832607C>T	uc003cdn.3	+	1	203	c.96C>T	c.(94-96)ttC>ttT	p.F32F	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Silent_p.F32F|OXSM_uc011awp.2_5'UTR	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	32					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGAAGTTTTTCGGAACTGTGC	0.418000														104			46		0	0	0.000781405	0	0
NLRP8	126205	broad.mit.edu	37	19	56465910	56465910	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56465910C>T	uc002qmh.3	+	2	557	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NLRP8_uc010etg.3_Silent_p.F162F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	162						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAAAGTTTTTCCCCATATGGG	0.443000														34			23		0	0	0.00047179	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536314	130536314	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:130536314C>T	uc004bsc.3	-	1	612	c.470G>A	c.(469-471)gGa>gAa	p.G157E	SH2D3C_uc004bsb.3_5'Flank|SH2D3C_uc004bsa.3_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.G101E	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	157					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCTACGTCTCCTGTGGGGAC	0.572000														29			14		0	0	0.000422831	0	0
CCDC141	285025	broad.mit.edu	37	2	179718304	179718304	+	Silent	SNP	T	C	C	rs76657151		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179718304T>C	uc002une.2	-	19	3226	c.3108A>G	c.(3106-3108)ggA>ggG	p.G1036G	CCDC141_uc002unf.1_Silent_p.G515G	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	461							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGAATATTTTCCAACTCTTA	0.388000														81			25		0	0	0.00178596	0	0
OBSCN	84033	broad.mit.edu	37	1	228554256	228554256	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:228554256G>A	uc009xez.1	+	83	19376	c.19332G>A	c.(19330-19332)ctG>ctA	p.L6444L	OBSCN_uc001hsr.1_Silent_p.L1073L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6444	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCAGAGCTGCTGGTGCTTG	0.637000														54			10		0	0	0.000978159	0	0
COL4A3	1285	broad.mit.edu	37	2	228118846	228118846	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228118846G>A	uc002vom.2	+	13	946	c.784G>A	c.(784-786)Gga>Aga	p.G262R	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	262	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGGGAAAAGGGAGACAAGGG	0.428000														92			31		0	0	0.00128727	0	0
MACC1	346389	broad.mit.edu	37	7	20198516	20198516	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:20198516C>T	uc003sus.4	-	4	1777	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	MACC1_uc010kug.3_Missense_Mutation_p.E490K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	490					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTGGGAGGCTCCACTTGAACA	0.413000														38			33		0	0	0.000491102	0	0
DEFB116	245930	broad.mit.edu	37	20	29891016	29891016	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:29891016C>T	uc010ztm.2	-	2	309	c.309_splice	c.e2+1	p.*103_splice		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Homo sapiens defensin, beta 116 (DEFB116), mRNA.	0					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGGTGATATTCAAATGTGAGA	0.373000														49			19		0	0	0.00121646	0	0
ADAM18	8749	broad.mit.edu	37	8	39587434	39587434	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:39587434C>T	uc003xni.3	+	19	2250	c.2195C>T	c.(2194-2196)tCa>tTa	p.S732L	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S708L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	732					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCCGTTGTATCAGAAAGCGAT	0.318000														114			34		0	0	0.00170553	0	0
TP53TG5	27296	broad.mit.edu	37	20	44005959	44005959	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:44005959C>T	uc002xny.3	-	2	228	c.147G>A	c.(145-147)ttG>ttA	p.L49L	DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	49					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGAGTAGCTTCAAGAGCGACA	0.507000														182			69		0	0	0.000781405	0	0
CDH17	1015	broad.mit.edu	37	8	95158316	95158316	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:95158316C>T	uc003ygh.2	-	14	2132	c.2007G>A	c.(2005-2007)aaG>aaA	p.K669K	CDH17_uc011lgo.1_Silent_p.K455K|CDH17_uc011lgp.1_Silent_p.K669K	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	669	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCGTGTAGTCCTTGGCTAGCC	0.498000														13			5		0	0	0.00198382	0	0
AOC2	314	broad.mit.edu	37	17	40996824	40996824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:40996824C>T	uc002ibu.3	+	0	216	c.181C>T	c.(181-183)Cga>Tga	p.R61*	AOC2_uc002ibt.3_Nonsense_Mutation_p.R61*	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	61					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGACCTGAGCCGAGAGGAGTT	0.657000														152			111		0	0	0.000781405	0	0
PRUNE	58497	broad.mit.edu	37	1	151006643	151006643	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:151006643C>T	uc001ewh.1	+	7	1431	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V	PRUNE_uc001ewi.1_Missense_Mutation_p.A250V|PRUNE_uc010pco.1_Missense_Mutation_p.A200V|PRUNE_uc001ewj.1_Missense_Mutation_p.A147V|PRUNE_uc001ewk.1_Missense_Mutation_p.A197V|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	Homo sapiens prune homolog (Drosophila) (PRUNE), mRNA.	432						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCTGAGGCCGTCTTCGAG	0.577000														140			28		0	0	0.000491102	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128578	68128578	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:68128578C>T	uc002jiq.3	+	2	586	c.446C>T	c.(445-447)tCt>tTt	p.S149F	KCNJ16_uc002jin.3_Missense_Mutation_p.S117F|KCNJ16_uc002jio.3_Missense_Mutation_p.S117F|KCNJ16_uc002jip.3_Missense_Mutation_p.S117F|KCNJ16_uc021uch.1_Missense_Mutation_p.S117F	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	117					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.M149I(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AACGTCCATTCTTTCACAGGG	0.453000														30			6		0	0	0.00116845	0	0
MYH8	4626	broad.mit.edu	37	17	10319000	10319000	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10319000G>A	uc002gmm.2	-	5	632	c.537C>T	c.(535-537)atC>atT	p.I179I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	179	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCACATACGTGATCAGGATGG	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					18			9		0	0	0.000978159	0	0
RP1L1	94137	broad.mit.edu	37	8	10469043	10469043	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:10469043G>A	uc003wtc.3	-	3	2794	c.2565C>T	c.(2563-2565)acC>acT	p.T855T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	855					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCTGGGCGGGGTGGGACAGT	0.731000														6			7		0	0	0.000157383	0	0
CBX8	57332	broad.mit.edu	37	17	77768609	77768609	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:77768609G>A	uc002jxd.2	-	4	1113	c.995C>T	c.(994-996)tCc>tTc	p.S332F		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	332					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCGATGAGGGAGGGCCTTCC	0.687000														25			13		0	0	0.00185496	0	0
MGAM	8972	broad.mit.edu	37	7	141802445	141802445	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:141802445G>A	uc003vwy.3	+	45	5345	c.5291G>A	c.(5290-5292)gGa>gAa	p.G1764E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1764	Glucoamylase.				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)	TATGGGAAAGGACTCTATTAC	0.413000														21			5		0	0	0.00198382	0	0
SI	6476	broad.mit.edu	37	3	164748504	164748504	+	Missense_Mutation	SNP	C	G	G	rs148434280	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164748504C>G	uc003fei.3	-	24	2951	c.2888G>C	c.(2887-2889)aGa>aCa	p.R963T		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	963	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	TATTACCGTTCTCCATACACA	0.299000										HNSCC(35;0.089)				33			9		0	0	0.000442599	0	0
MYO15A	51168	broad.mit.edu	37	17	18040901	18040901	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:18040901C>T	uc021trm.1	+	14	5002	c.4783C>T	c.(4783-4785)Ctg>Ttg	p.L1595L	MYO15A_uc021trl.1_Silent_p.L1593L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1595	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGGCAGGACCTGAGCTTCAA	0.542000														23			17		0	0	0.00121646	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223941	142223941	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142223941C>T	uc003vyi.2	-	1	243	c.226G>A	c.(226-228)Gat>Aat	p.D76N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AACTGTGAATCATCTACTACA	0.512000														40			7		0	0	0.000157383	0	0
F8	2157	broad.mit.edu	37	X	154133271	154133271	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:154133271G>A	uc004fmt.3	-	15	5572	c.5401C>T	c.(5401-5403)Ccc>Tcc	p.P1801S	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1801	F5/8 type A 3.|Plastocyanin-like 5.		P -> A (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGAATAGGGACGAGAGGCC	0.363000														21			12		0	0	0.000978159	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078040	46078040	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:46078040C>T	uc002zft.3	+	0	192	c.144C>T	c.(142-144)ccC>ccT	p.P48P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	48	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCGTGGCTCCCTCCTGCCAGC	0.647000														93			15		0	0	0.000308642	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976111	120976111	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:120976111G>A	uc003eec.4	+	16	1903	c.1763G>A	c.(1762-1764)aGg>aAg	p.R588K	STXBP5L_uc011bji.2_Missense_Mutation_p.R588K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	588					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCTTCTTCAAGGAGTCTTTCT	0.413000														102			19		0	0	0.00074312	0	0
IP6K1	9807	broad.mit.edu	37	3	49765668	49765668	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49765668G>A	uc021wyl.1	-	4	1313	c.660C>T	c.(658-660)ccC>ccT	p.P220P	IP6K1_uc003cxm.1_Silent_p.P220P|IP6K1_uc003cxn.1_Silent_p.P55P	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	220	Substrate binding (By similarity).				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CCAACACGCAGGGGTACTTGA	0.592000														64			17		0	0	0.00074312	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463298	44463298	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:44463298G>A	uc001cll.3	-	13	2232	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Silent_p.V626V|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.V611V|SLC6A9_uc010oko.2_Silent_p.V496V|SLC6A9_uc001cln.3_Silent_p.V607V	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	680						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCAGTGGCTGGACCTCGAAGC	0.662000														207			70		0	0	0.000781405	0	0
FGF12	2257	broad.mit.edu	37	3	191888415	191888415	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:191888415C>T	uc003fsx.3	-	3	1271	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	FGF12_uc003fsy.3_Missense_Mutation_p.E87K	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	149					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.E149K(2)|p.K148N(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AACACAGATTCCTTGAATTTG	0.368000														153			33		0	0	0.000692331	0	0
SEC16A	9919	broad.mit.edu	37	9	139371455	139371455	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:139371455G>A	uc004chx.3	-	2	922	c.613C>T	c.(613-615)Cct>Tct	p.P205S	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.P205S|SEC16A_uc010nbn.3_Missense_Mutation_p.P205S|SEC16A_uc010nbo.1_Missense_Mutation_p.P205S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	27					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCAGGCTGAGGGAGGGAAGGG	0.657000														33			23		0	0	0.00229938	0	0
COL28A1	340267	broad.mit.edu	37	7	7545698	7545698	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:7545698C>T	uc003src.1	-	11	1090	c.973_splice	c.e11-1	p.G325_splice	COL28A1_uc011jxe.1_Splice_Site_p.R10_splice|COL28A1_uc003srd.3_Splice_Site	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	325	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCAGTAATTCCCTGCTCCAGG	0.473000														72			10		0	0	0.000673444	0	0
GYS2	2998	broad.mit.edu	37	12	21757457	21757457	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:21757457G>A	uc001rfb.3	-	0	325	c.70C>T	c.(70-72)Cct>Tct	p.P24S		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	24					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCTCCACAGGAAGTTCTTCG	0.502000														29			9		0	0	0.000442599	0	0
DCC	1630	broad.mit.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:51025778C>T	uc002lfe.2	+	26	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DCC_uc010dpf.2_Nonsense_Mutation_p.R970*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1337					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTGTGTTCGACCAACTCA	0.532000														67			12		0	0	0.00185496	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761569	92761569	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:92761569G>A	uc003umh.1	-	4	4932	c.3716C>T	c.(3715-3717)cCt>cTt	p.P1239L	SAMD9L_uc003umj.1_Missense_Mutation_p.P1239L|SAMD9L_uc003umi.1_Missense_Mutation_p.P1239L|SAMD9L_uc010lfb.1_Missense_Mutation_p.P1239L|SAMD9L_uc003umk.1_Missense_Mutation_p.P1239L|SAMD9L_uc010lfc.1_Missense_Mutation_p.P1239L|SAMD9L_uc010lfd.1_Missense_Mutation_p.P1239L|SAMD9L_uc022ahh.1_Missense_Mutation_p.P1239L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1239										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGGATCAGGAGGAATGGTCCA	0.348000														37			8		0	0	0.000442599	0	0
C2orf78	388960	broad.mit.edu	37	2	74042871	74042871	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:74042871C>T	uc002sjr.1	+	2	1642	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	507										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATAAAGCTTCCGAGCCTATCC	0.473000														15			9		0	0	0.000274275	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36190931	36190931	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:36190931G>A	uc001wtj.3	-	15	2620	c.2229C>T	c.(2227-2229)acC>acT	p.T743T	RALGAPA1_uc001wti.3_Silent_p.T743T|RALGAPA1_uc010tpv.2_Silent_p.T743T|RALGAPA1_uc010tpw.1_Silent_p.T743T|RALGAPA1_uc001wtk.1_Silent_p.T594T	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	743					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGCCTTTTCGGTTCCTGGAG	0.453000														70			18		0	0	0.00229938	0	0
TMEM180	79847	broad.mit.edu	37	10	104235720	104235720	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:104235720C>T	uc001kvt.3	+	9	1752	c.1533C>T	c.(1531-1533)acC>acT	p.T511T	TMEM180_uc010qql.2_Silent_p.T240T|TMEM180_uc010qqm.1_Intron	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	511						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGCCCAAACCCTGGATGTTA	0.557000														23			7		0	0	0.000442599	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709328	128709328	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:128709328C>T	uc001qeo.1	-	1	919	c.868G>A	c.(868-870)Gac>Aac	p.D290N	KCNJ1_uc001qep.1_Missense_Mutation_p.D271N|KCNJ1_uc001qeq.1_Missense_Mutation_p.D271N|KCNJ1_uc001qer.1_Missense_Mutation_p.D271N|KCNJ1_uc001qes.1_Missense_Mutation_p.D271N|KCNJ1_uc021qsb.1_Missense_Mutation_p.D271N	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	290					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AATTCAAAGTCCTGCTGGAGA	0.478000														49			8		0	0	0.000274275	0	0
FGF13	2258	broad.mit.edu	37	X	137717808	137717808	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:137717808G>A	uc004fam.3	-	3	1073	c.411C>T	c.(409-411)ttC>ttT	p.F137F	FGF13_uc004fan.3_Silent_p.F84F|FGF13_uc011mwi.2_Silent_p.F118F|FGF13_uc004faq.3_Silent_p.F147F|FGF13_uc004far.3_Silent_p.F118F|FGF13_uc011mwj.2_Silent_p.F147F|FGF13_uc011mwk.2_Silent_p.F91F	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	137					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ACTCAGGTGTGAAAAGTTCCT	0.358000														5			7		0	0	0.00198382	0	0
NRXN1	9378	broad.mit.edu	37	2	51254950	51254950	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:51254950G>A	uc021vhh.1	-	0	1383	c.462C>T	c.(460-462)ttC>ttT	p.F154F	NRXN1_uc021vhg.1_Silent_p.F154F|NRXN1_uc021vhi.1_Silent_p.F154F|NRXN1_uc021vhj.1_Silent_p.F154F|NRXN1_uc021vhk.1_Silent_p.F154F	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	154	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G153V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCCCCCGACGAAAAGGCCGC	0.662000														16			6		0	0	0.00116845	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527359	97527359	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:97527359G>A	uc002sxg.4	-	11	2019	c.1788C>T	c.(1786-1788)acC>acT	p.T596T	SEMA4C_uc002sxf.4_Silent_p.T43T|SEMA4C_uc002sxe.3_Silent_p.T43T|SEMA4C_uc002sxh.4_Silent_p.T543T	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	543	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AAGTGTCCGAGGTCATCACAT	0.562000														139			41		0	0	0.000781405	0	0
CD163	9332	broad.mit.edu	37	12	7635987	7635987	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:7635987C>T	uc001qsz.3	-	11	3192	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	CD163_uc001qta.3_Missense_Mutation_p.E1022K|CD163_uc009zfw.2_Missense_Mutation_p.E1055K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1022	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.K1021K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCAGCGTCTTCCTTGTGCCCA	0.522000														14			7		0	0	0.000274275	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454349	6454349	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6454349G>A	uc002mex.1	-	5	922	c.780C>T	c.(778-780)ttC>ttT	p.F260F	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Silent_p.F77F	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	260					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.F260L(2)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CATAGGCCATGAACTTGATAG	0.547000														147			50		0	0	0.000781405	0	0
OR2J2	26707	broad.mit.edu	37	6	29142337	29142337	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:29142337G>A	uc011dlm.2	+	0	1027	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ATTGGGGTGGGAGTGGGGGAA	0.443000														30			12		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179584982	179584982	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179584982C>T	uc021vsy.1	-	77	19880	c.19655G>A	c.(19654-19656)cGa>cAa	p.R6552Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3213Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7479	Ig-like 47.						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)			TTTCACGAATCGTGGAGGTTC	0.453000														44			8		0	0	0.000442599	0	0
CHL1	10752	broad.mit.edu	37	3	436434	436434	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:436434G>A	uc003bot.3	+	23	3615	c.2973G>A	c.(2971-2973)aaG>aaA	p.K991K	CHL1_uc003bou.3_Silent_p.K975K|CHL1_uc003bow.2_Silent_p.K975K|CHL1_uc011asi.2_Silent_p.K991K	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	975	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				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)		CTCCATCAAAGCCCAGCTGGC	0.393000														49			14		0	0	0.000219431	0	0
HELZ	9931	broad.mit.edu	37	17	65119265	65119265	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:65119265G>A	uc010wqk.2	-	25	3641	c.3454C>T	c.(3454-3456)Cct>Tct	p.P1152S	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.P1151S	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGTACAGAAGGATTGGGCTGA	0.373000														14			8		0	0	0.000442599	0	0
WDR7	23335	broad.mit.edu	37	18	54358469	54358469	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:54358469C>T	uc002lgk.1	+	7	951	c.740C>T	c.(739-741)tCc>tTc	p.S247F	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.S247F	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	247										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGAGACTATTCCTTGTTGTGT	0.403000														140			20		0	0	0.000586117	0	0
TG	7038	broad.mit.edu	37	8	133881993	133881993	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:133881993G>A	uc003ytw.3	+	2	237	c.196G>A	c.(196-198)Gac>Aac	p.D66N		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	66	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGCCAGAACGACGGCCGCTC	0.637000														50			7		0	0	0.000274275	0	0
CLMN	79789	broad.mit.edu	37	14	95670379	95670379	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95670379G>A	uc001yef.2	-	8	1423	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	436						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ACTGCAGAAAGGATCCTTGTA	0.478000														83			23		0	0	0.000586117	0	0
NUP210	23225	broad.mit.edu	37	3	13376957	13376957	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:13376957G>A	uc003bxv.1	-	27	3923	c.3840C>T	c.(3838-3840)gtC>gtT	p.V1280V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1280					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCCTACCTGGACTTGGATCT	0.622000														80			26		0	0	0.000491102	0	0
NWD1	284434	broad.mit.edu	37	19	16902209	16902209	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16902209G>A	uc002neu.4	+	13	3411	c.2989G>A	c.(2989-2991)Gga>Aga	p.G997R	NWD1_uc002net.4_Missense_Mutation_p.G862R|NWD1_uc002nev.4_Missense_Mutation_p.G791R|NWD1_uc021uqg.1_Missense_Mutation_p.G862R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	997							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCATATCCTGGGAGATGCCTC	0.527000														107			38		0	0	0.000509022	0	0
HECW2	57520	broad.mit.edu	37	2	197182013	197182013	+	Missense_Mutation	SNP	C	T	T	rs138652045		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:197182013C>T	uc002utm.1	-	9	2602	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	HECW2_uc002utl.1_Missense_Mutation_p.E451K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	807	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D806E(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGAGAGCCTCGTCCACCCTC	0.522000														30			6		0	0	0.00116845	0	0
ATP8A2	51761	broad.mit.edu	37	13	26154085	26154085	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:26154085G>A	uc001uqk.3	+	22	2149	c.2007_splice	c.e22+1	p.K669_splice	ATP8A2_uc010tdi.2_Splice_Site_p.K629_splice|ATP8A2_uc010tdj.2_Splice_Site|ATP8A2_uc010aaj.1_Splice_Site_p.K179_splice	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	629					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCATTGAGAAGGTAACCGCAC	0.423000														9			9		0	0	0.000978159	0	0
HPCA	3208	broad.mit.edu	37	1	33359215	33359215	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:33359215G>A	uc001bwh.3	+	2	509	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	157	EF-hand 4.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGCCAAATGGACACAAACAA	0.642000														39			21		0	0	0.00047179	0	0
SPNS3	201305	broad.mit.edu	37	17	4348457	4348457	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4348457C>T	uc002fxt.3	+	2	440	c.396C>T	c.(394-396)tcC>tcT	p.S132S	SPNS3_uc002fxu.3_Intron	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	132					lipid transport|transmembrane transport	integral to membrane		p.S132S(4)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCTTCATCTCCCCCCGGGTAC	0.622000														43			6		0	0	0.000157383	0	0
PTPRU	10076	broad.mit.edu	37	1	29630521	29630521	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:29630521G>A	uc001bru.3	+	16	2790	c.2661G>A	c.(2659-2661)aaG>aaA	p.K887K	PTPRU_uc009vtq.3_Silent_p.K877K|PTPRU_uc009vtr.3_Silent_p.K877K|PTPRU_uc001brw.3_Silent_p.K877K	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	887	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACCAGATGAAGACGGCCGAGG	0.652000														68			38		0	0	0.000509022	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63063322	63063322	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:63063322C>A	uc001das.1	+	0	136	c.85C>A	c.(85-87)Cta>Ata	p.L29I	DOCK7_uc001dan.3_Intron|DOCK7_uc001dao.3_Intron|DOCK7_uc001dap.3_Intron|DOCK7_uc001daq.3_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	Homo sapiens angiopoietin-like 3 (ANGPTL3), mRNA.	29					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						ATTTGATTCTCTATCTCCAGA	0.343000														22			15		1.15088e-07	5.47158e-07	0.000422831	1	0
MYLK3	91807	broad.mit.edu	37	16	46781861	46781861	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:46781861G>A	uc002eei.4	-	0	361	c.245C>T	c.(244-246)cCc>cTc	p.P82L	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	82					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTCAATGTGGGGAACCCCATC	0.706000														11			10		0	0	0.000673444	0	0
OR51S1	119692	broad.mit.edu	37	11	4869488	4869488	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:4869488C>T	uc010qyo.2	-	0	951	c.951G>A	c.(949-951)agG>agA	p.R317R		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCACCTTCCTGGGCTGCA	0.463000														50			9		0	0	0.000274275	0	0
BDKRB2	624	broad.mit.edu	37	14	96707016	96707016	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:96707016C>T	uc010avm.1	+	2	547	c.351C>T	c.(349-351)atC>atT	p.I117I	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.I90I|BDKRB2_uc001yfg.2_Silent_p.I117I	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	117					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CCATCACCATCTCCAACAACT	0.587000														136			32		0	0	0.000814825	0	0
ZNF223	7766	broad.mit.edu	37	19	44570909	44570909	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:44570909C>T	uc002oyf.1	+	4	1181	c.928C>T	c.(928-930)Cac>Tac	p.H310Y	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TTGTGTGGTCCACACAGGAAA	0.448000														47			22		0	0	0.00229938	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067330	103067330	+	Silent	SNP	C	T	T	rs140183707	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:103067330C>T	uc002tbx.3	+	10	1717	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IL18RAP_uc010fiz.3_Silent_p.F269F	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	411	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.F411F(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGATGCTTTCGTATCCTATG	0.343000														115			43		0	0	0.000781405	0	0
TAS1R1	80835	broad.mit.edu	37	1	6615455	6615455	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:6615455C>T	uc001ant.3	+	0	118	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	NOL9_uc001ans.3_5'Flank|NOL9_uc010nzs.2_5'Flank|TAS1R1_uc001anu.3_Silent_p.L8L	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	8					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACGGCTCGCCTGGTCGGCCT	0.617000														17			10		0	0	0.000673444	0	0
ATP1A2	477	broad.mit.edu	37	1	160105705	160105705	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:160105705C>T	uc001fvc.3	+	16	2493	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	ATP1A2_uc001fvb.2_Silent_p.F787F|ATP1A2_uc001fvd.3_Silent_p.F523F	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	787					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCACCCCCTTCCTGCTGTTCA	0.557000														44			17		0	0	0.00074312	0	0
PRR11	55771	broad.mit.edu	37	17	57262837	57262837	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:57262837C>T	uc002ixf.2	+	3	628	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	106										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTTCCATCTCGTATCTGCCA	0.348000														66			33		0	0	0.000814825	0	0
NFATC4	4776	broad.mit.edu	37	14	24839582	24839582	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24839582C>T	uc001wpc.3	+	1	1299	c.978C>T	c.(976-978)atC>atT	p.I326I	NFATC4_uc010alr.3_Silent_p.I389I|NFATC4_uc010tok.2_Silent_p.I389I|NFATC4_uc010tol.2_Silent_p.I389I|NFATC4_uc010als.2_Silent_p.I339I|NFATC4_uc010too.2_Silent_p.I339I|NFATC4_uc010tom.2_Silent_p.I339I|NFATC4_uc010ton.2_Silent_p.I339I|NFATC4_uc010toq.2_Silent_p.I358I|NFATC4_uc010alt.3_Silent_p.I358I|NFATC4_uc010top.2_Silent_p.I358I|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Silent_p.I326I|NFATC4_uc010tos.2_Silent_p.I256I|NFATC4_uc010tot.2_Silent_p.I314I|NFATC4_uc010tou.2_Silent_p.I256I|NFATC4_uc010tov.2_Silent_p.I314I|NFATC4_uc010tow.2_Silent_p.I256I|NFATC4_uc010alv.3_Silent_p.I314I|NFATC4_uc010tox.2_Silent_p.I256I|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	326	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGAGAGCATCCCTCAGAAGA	0.662000														49			7		0	0	0.000157383	0	0
FLG	2312	broad.mit.edu	37	1	152276933	152276933	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152276933G>A	uc001ezu.1	-	2	10465	c.10429C>T	c.(10429-10431)Cgt>Tgt	p.R3477C		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3477	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)			GACTGCCCACGGGAGGCATCA	0.557000									Ichthyosis					174			26		0	0	0.0024448	0	0
COX7A2	1347	broad.mit.edu	37	6	75953512	75953512	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:75953512G>A	uc003phv.2	-	0	133	c.35C>T	c.(34-36)cCg>cTg	p.P12L	COX7A2_uc021zbx.1_Non-coding_Transcript	NM_001865	NP_001856	P14406	CX7A2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 2 (liver) (COX7A2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						TGGCCACGCCGGAACCGGAAC	0.522000														20			11		0	0	0.000978159	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611521	19611521	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:19611521G>A	uc001bbv.1	-	3	672	c.595C>T	c.(595-597)Cct>Tct	p.P199S		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	199					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCCAGAGGGTTGAAGGCA	0.582000														112			20		0	0	0.00047179	0	0
ADCY8	114	broad.mit.edu	37	8	131922042	131922042	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:131922042C>T	uc003ytd.4	-	5	1808	c.1552G>A	c.(1552-1554)Ggt>Agt	p.G518S	ADCY8_uc010mds.3_Missense_Mutation_p.G518S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	518					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAAAACACCGCACAGCACC	0.473000										HNSCC(32;0.087)				76			13		0	0	0.00185496	0	0
TFPI	7035	broad.mit.edu	37	2	188361661	188361661	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:188361661C>T	uc002upy.3	-	2	561	c.266G>A	c.(265-267)gGa>gAa	p.G89E	TFPI_uc002uqa.2_Missense_Mutation_p.G89E|TFPI_uc002uqb.2_Missense_Mutation_p.G89E	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	89	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATTCTGATTTCCTTCACATCC	0.388000														46			17		0	0	0.00121646	0	0
BEST3	144453	broad.mit.edu	37	12	70066703	70066703	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:70066703C>T	uc001svg.3	-	7	1137	c.910G>A	c.(910-912)Gat>Aat	p.D304N	BEST3_uc001svd.2_Missense_Mutation_p.D304N|BEST3_uc001svf.3_Missense_Mutation_p.D91N|BEST3_uc010stm.2_Missense_Mutation_p.D198N	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	304						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTTCAAAATCATCATCATCT	0.323000														26			10		0	0	0.00185496	0	0
OR6K3	391114	broad.mit.edu	37	1	158687584	158687584	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158687584C>T	uc021pbn.1	-	0	322	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCTGAGTTTTCAAGTGAGTGG	0.498000														102			21		0	0	0.000375601	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74531559	74531559	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:74531559G>A	uc001xpo.3	-	10	1568	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	C14orf45_uc010tup.2_3'UTR|C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.S477F|ALDH6A1_uc010asa.3_Missense_Mutation_p.S335F	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	490						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TCCCCTGAAGGAGGATCGAGA	0.403000														30			5		0	0	0.000602214	0	0
ABP1	26	broad.mit.edu	37	7	150555106	150555106	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150555106C>T	uc003why.1	+	2	5766	c.1548C>T	c.(1546-1548)taC>taT	p.Y516Y	ABP1_uc003whz.1_Silent_p.Y516Y|ABP1_uc003wia.1_Silent_p.Y516Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	516					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TGGTGCACTACCGCGTAGACC	0.572000														66			33		0	0	0.00148497	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978672	148978672	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:148978672C>T	uc011kuo.2	+	5	1042	c.879C>T	c.(877-879)tcC>tcT	p.S293S	AF035281_uc003wfr.4_Intron	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	293					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TGGGGGTGTCCCGAGGCCAGA	0.647000														66			26		0	0	0.00127121	0	0
CCR8	1237	broad.mit.edu	37	3	39374497	39374497	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:39374497G>A	uc010hhr.2	+	1	813	c.675G>A	c.(673-675)ctG>ctA	p.L225L	CCR8_uc003cjm.2_Silent_p.L142L|CCR8_uc021wwe.1_Silent_p.L225L	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	225					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TGCACCAGCTGAAGAGGTGTC	0.418000														49			9		0	0	0.00185496	0	0
IL22	50616	broad.mit.edu	37	12	68646579	68646579	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:68646579G>A	uc001sty.1	-	1	270	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	IL22_uc010stb.1_Missense_Mutation_p.R73C	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	73					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	p.R73C(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		CCAATGAGACGAACGTCTGTG	0.463000														53			30		0	0	0.00058488	0	0
ALPK1	80216	broad.mit.edu	37	4	113347634	113347634	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:113347634G>A	uc003ian.4	+	7	861	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	ALPK1_uc003iap.4_Missense_Mutation_p.E212K|ALPK1_uc011cfx.2_Missense_Mutation_p.E134K|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.E40K	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	212							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GATGTGGTACGAAGCAGCAGA	0.448000														78			20		0	0	0.00047179	0	0
USP43	124739	broad.mit.edu	37	17	9596507	9596507	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:9596507C>T	uc010cod.3	+	8	1417	c.1417C>T	c.(1417-1419)Ccg>Tcg	p.P473S	USP43_uc002gma.4_Missense_Mutation_p.P162S|USP43_uc010vva.2_Missense_Mutation_p.P473S|USP43_uc010coe.3_Missense_Mutation_p.P270S	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	473					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CTATTTGTCTCCGAAGGACAG	0.517000														20			11		0	0	0.00136819	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567391	45567391	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:45567391C>T	uc010dnv.3	-	2	590	c.154G>A	c.(154-156)Gat>Aat	p.D52N	ZBTB7C_uc002ldb.3_Missense_Mutation_p.D30N|ZBTB7C_uc010dnu.3_Missense_Mutation_p.D39N|ZBTB7C_uc010dnw.3_Missense_Mutation_p.D30N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D30N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D30N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D52N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D30N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D39N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D79N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D39N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D52N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D30N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D39N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D52N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D30N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D30N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D30N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D39N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D39N|ZBTB7C_uc010don.1_Missense_Mutation_p.D38N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D30N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D39N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D52N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D30N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D30N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D30N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D39N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	30	BTB.					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						AGCAGGCCATCGTGCCGTTGC	0.567000														37			7		0	0	0.000157383	0	0
TP63	8626	broad.mit.edu	37	3	189587161	189587161	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:189587161G>A	uc003fry.2	+	8	1267	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	TP63_uc003frx.2_Missense_Mutation_p.R393Q|TP63_uc003frz.2_Missense_Mutation_p.R393Q|TP63_uc010hzc.1_Missense_Mutation_p.R393Q|TP63_uc003fsa.2_Missense_Mutation_p.R299Q|TP63_uc003fsb.2_Missense_Mutation_p.R299Q|TP63_uc003fsc.2_Missense_Mutation_p.R299Q|TP63_uc003fsd.2_Missense_Mutation_p.R299Q|TP63_uc021xir.1_Missense_Mutation_p.R299Q|TP63_uc010hzd.1_Missense_Mutation_p.R214Q|TP63_uc003fse.1_Missense_Mutation_p.R270Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	393					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATCAAGAAACGAAGATCCCCA	0.413000										HNSCC(45;0.13)				26			13		0	0	0.000422831	0	0
LRP2	4036	broad.mit.edu	37	2	169995847	169995847	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:169995847G>A	uc002ues.3	-	73	13515	c.13302C>T	c.(13300-13302)atC>atT	p.I4434I		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4434					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAATTACGACGATCAAGAGGA	0.507000														31			13		0	0	0.000422831	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629272	9629272	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:9629272G>A	uc003jem.1	-	0	1192	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	291					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGTGGAGGAGGAACTTTTTTG	0.403000														53			13		0	0	0.000308642	0	0
FAM129A	116496	broad.mit.edu	37	1	184764157	184764157	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:184764157C>T	uc001gra.3	-	13	2935	c.2741G>A	c.(2740-2742)gGa>gAa	p.G914E	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	914					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ACCACCTTCTCCCTCCTTCAC	0.517000														90			37		0	0	0.00128727	0	0
ARID5A	10865	broad.mit.edu	37	2	97217942	97217942	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:97217942C>T	uc002swe.3	+	6	1777	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	ARID5A_uc010yuq.2_Silent_p.F507F|ARID5A_uc002swf.3_Silent_p.F395F|ARID5A_uc002swg.3_Silent_p.F507F	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	559					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CAACGTCCTTCGACAGTGCCC	0.667000														116			38		0	0	0.00170553	0	0
ZNF862	643641	broad.mit.edu	37	7	149558181	149558181	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:149558181C>T	uc010lpn.3	+	6	2124	c.1932C>T	c.(1930-1932)atC>atT	p.I644I		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	644					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						GGATTTACATCCGCTACTTCA	0.587000														9			11		0	0	0.000673444	0	0
OR6K2	81448	broad.mit.edu	37	1	158670041	158670041	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158670041G>A	uc001fsu.1	-	0	402	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I134V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGGGGTCATGATAGAGGGAT	0.473000														57			11		0	0	0.00185496	0	0
SP100	6672	broad.mit.edu	37	2	231379974	231379974	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:231379974C>T	uc002vqt.3	+	24	2400	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	753					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAACCTATATCCCTCCTAAAG	0.423000														35			6		0	0	0.00116845	0	0
CCDC89	220388	broad.mit.edu	37	11	85397055	85397055	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:85397055T>A	uc001pau.1	-	0	266	c.119A>T	c.(118-120)aAg>aTg	p.K40M		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.	40						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTCCAGTTCCTTAAACTCCGT	0.552000														31			22		0	0	0.000586117	0	0
STIL	6491	broad.mit.edu	37	1	47716973	47716973	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47716973C>T	uc001crd.1	-	16	3857	c.3702G>A	c.(3700-3702)ggG>ggA	p.G1234G	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.G1187G|STIL_uc010omo.1_Silent_p.G1216G|STIL_uc001crc.1_Silent_p.G1233G|STIL_uc001cre.1_Silent_p.G1233G	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1233					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ACTCTGCTTTCCCGGTTCGAA	0.398000														154			80		0	0	0.000781405	0	0
ADH1B	125	broad.mit.edu	37	4	100237121	100237121	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:100237121C>T	uc003hus.4	-	4	585	c.501G>A	c.(499-501)ctG>ctA	p.L167L	ADH1B_uc003hut.4_Silent_p.L127L|ADH1B_uc011ceh.2_Silent_p.L12L|ADH1B_uc011cei.1_Silent_p.L127L	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	167					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGACTTTCTCCAGGGGCGAGG	0.522000														73			13		0	0	0.000219431	0	0
ZNF534	147658	broad.mit.edu	37	19	52938380	52938380	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:52938380G>A	uc002pzk.3	+	2	295	c.228G>A	c.(226-228)aaG>aaA	p.K76K	ZNF534_uc002pzj.1_Silent_p.K63K|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.K63K	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TGGAGCAAAAGAGAGATCCCT	0.458000														34			20		0	0	0.00188189	0	0
FRAS1	80144	broad.mit.edu	37	4	79458181	79458181	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:79458181C>T	uc003hlb.2	+	71	11565	c.11125C>T	c.(11125-11127)Cca>Tca	p.P3709S		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3704					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTTTGGAATCCAGAACAAAA	0.393000														91			17		0	0	0.00121646	0	0
RBP3	5949	broad.mit.edu	37	10	48389378	48389378	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:48389378C>T	uc001jez.3	-	0	1614	c.1500G>A	c.(1498-1500)gaG>gaA	p.E500E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	500	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)	CGGGGCCGGCCTCAGGGCCCT	0.652000														35			7		0	0	0.000442599	0	0
NCKAP1	10787	broad.mit.edu	37	2	183795517	183795517	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:183795517C>T	uc002upc.3	-	27	3262	c.2860_splice	c.e27-1	p.V954_splice	NCKAP1_uc002upb.3_Splice_Site_p.V960_splice	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	954					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATTGCAACCTGATAAAAAC	0.363000														34			7		0	0	0.000157383	0	0
abParts	0	broad.mit.edu	37	14	106993982	106993982	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106993982C>T	uc021ser.1	-	233		c.9272G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.537000														89			23		0	0	0.000375601	0	0
REST	5978	broad.mit.edu	37	4	57797279	57797279	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:57797279C>T	uc003hch.3	+	3	2602	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L	REST_uc003hci.3_Missense_Mutation_p.P752L|REST_uc010ihf.3_Missense_Mutation_p.P426L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	752	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding	p.P752T(2)|p.P752P(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGTCTCCTCCCATGGAGGTG	0.557000														250			49		0	0	0.000781405	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815807	179815807	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:179815807G>A	uc001gnl.3	-	6	1626	c.812C>T	c.(811-813)tCc>tTc	p.S271F	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.S271F	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	271						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CCACAGGAAGGAACTCTGGCC	0.512000														62			32		0	0	0.00058488	0	0
MTPAP	55149	broad.mit.edu	37	10	30615522	30615522	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:30615522G>A	uc001iva.4	-	4	886	c.823C>T	c.(823-825)Cct>Tct	p.P275S	MTPAP_uc001ivb.4_Missense_Mutation_p.P405S	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	275					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTTCTGAAGGAACATTTTTC	0.348000														96			33		0	0	0.0024448	0	0
DOCK9	23348	broad.mit.edu	37	13	99537329	99537329	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:99537329G>A	uc001vnt.2	-	20	2336	c.2281C>T	c.(2281-2283)Ccc>Tcc	p.P761S	DOCK9_uc001vnw.2_Missense_Mutation_p.P760S|DOCK9_uc021rlw.1_Missense_Mutation_p.P760S|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.P761S|DOCK9_uc010tis.1_Missense_Mutation_p.P760S|DOCK9_uc010tit.1_Missense_Mutation_p.P761S|DOCK9_uc010afu.1_Missense_Mutation_p.P607S	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	761	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCAGGAGGGGAAGCCAGGAG	0.502000														13			4		0	0	0.00116845	0	0
INPP5F	22876	broad.mit.edu	37	10	121565915	121565915	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:121565915C>T	uc001leo.3	+	11	1579	c.1363C>T	c.(1363-1365)Cgt>Tgt	p.R455C		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	455	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGGGATTTTTCGTGTTAATTG	0.393000														15			5		0	0	0.000602214	0	0
CDYL2	124359	broad.mit.edu	37	16	80667020	80667020	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:80667020C>T	uc002ffs.3	-	2	835	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	244						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CAGTTGCTTTCATTCTGGCGG	0.527000														77			13		0	0	0.000308642	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687498	27687498	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:27687498C>T	uc001itu.2	-	3	2147	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	677					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTACAGTTTTCCAGTTTTTGC	0.303000														29			10		0	0	0.000978159	0	0
NRXN1	9378	broad.mit.edu	37	2	50733674	50733674	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:50733674T>A	uc021vhh.1	-	11	3377	c.2456A>T	c.(2455-2457)aAa>aTa	p.K819I	NRXN1_uc002rxb.4_Missense_Mutation_p.K491I|NRXN1_uc021vhg.1_Missense_Mutation_p.K859I|NRXN1_uc021vhi.1_Missense_Mutation_p.K855I|NRXN1_uc021vhj.1_Missense_Mutation_p.K815I|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	819	Laminin G-like 4.				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)			CTTTAAACTTTTTCCACGCCG	0.443000														20			7		0	0	0.00198382	0	0
FLT4	2324	broad.mit.edu	37	5	180047284	180047284	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:180047284C>T	uc003mlz.4	-	16	2510	c.2431G>A	c.(2431-2433)Ggc>Agc	p.G811S	FLT4_uc003mma.4_Missense_Mutation_p.G811S|FLT4_uc003mmb.1_Missense_Mutation_p.G344S	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	811					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GACAGGTAGCCCGTCTTGATG	0.622000														133			18		0	0	0.000375601	0	0
PANK1	53354	broad.mit.edu	37	10	91371750	91371750	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:91371750G>A	uc001kgp.2	-	1	1029	c.759C>T	c.(757-759)ttC>ttT	p.F253F	PANK1_uc001kgn.2_Silent_p.F28F|PANK1_uc001kgo.2_Silent_p.F28F|PANK1_uc009xtu.2_Silent_p.F55F	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	253					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CCTTCGGCTCGAAATACACCA	0.458000														77			19		0	0	0.00188189	0	0
PPEF2	5470	broad.mit.edu	37	4	76804159	76804159	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:76804159C>T	uc003hix.3	-	9	1210	c.853G>A	c.(853-855)Gat>Aat	p.D285N	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.D285N	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	285	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACTTTCTCATCTATCAGAGTG	0.388000														59			15		0	0	0.000219431	0	0
SVEP1	79987	broad.mit.edu	37	9	113173652	113173652	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:113173652C>A	uc010mtz.3	-	36	6676	c.6339G>T	c.(6337-6339)atG>atT	p.M2113I	SVEP1_uc010mty.3_Missense_Mutation_p.M39I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2113	Sushi 12.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAAAGCCTTCCATGCATTTAA	0.473000														19			4		0.00116845	0.00550051	0.00116845	1	0
PAPLN	89932	broad.mit.edu	37	14	73720562	73720562	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:73720562G>A	uc010ttx.2	+	10	1358	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PAPLN_uc001xnw.4_Missense_Mutation_p.E372K|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.E399K	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	399	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGGCATCCAGGAGGCCGTGGA	0.692000														45			13		0	0	0.000219431	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962622	73962622	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:73962622C>T	uc004eby.3	-	2	2387	c.1770G>A	c.(1768-1770)aaG>aaA	p.K590K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	590					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.K590N(2)		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						GCTTCTTCTTCTTTTGCCAGA	0.458000														10			5		0	0	0.000602214	0	0
KRT7	3855	broad.mit.edu	37	12	52642480	52642480	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:52642480C>T	uc001saa.1	+	8	1473	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	KRT86_uc010snq.2_5'Flank	NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	449	Tail.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		AGTGCGGGTCCTGGGCTCCTG	0.647000														28			25		0	0	0.000720815	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389223	140389223	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140389223G>A	uc003lii.3	+	3	3330	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	PCDHAC2_uc003lha.2_Missense_Mutation_p.G588R|PCDHAC2_uc003lhb.2_Missense_Mutation_p.G852R|PCDHAC2_uc003lhd.2_Missense_Mutation_p.G850R|PCDHAC2_uc003lhf.2_Missense_Mutation_p.G852R|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G849R|PCDHAC2_uc003lhi.2_Missense_Mutation_p.G849R|PCDHAC2_uc003lhl.2_Missense_Mutation_p.G838R|PCDHAC2_uc003lhk.1_Missense_Mutation_p.G838R|PCDHAC2_uc003lho.2_Missense_Mutation_p.G852R|PCDHAC2_uc003lhn.2_Missense_Mutation_p.G588R|PCDHAC2_uc003lhq.2_Missense_Mutation_p.G839R|PCDHAC2_uc003lhs.2_Missense_Mutation_p.G852R|PCDHAC2_uc003lhu.2_Missense_Mutation_p.G852R|PCDHAC2_uc003lhw.2_Missense_Mutation_p.G587R|PCDHAC2_uc003lhx.2_Missense_Mutation_p.G850R|PCDHAC2_uc003lia.2_Missense_Mutation_p.G851R|PCDHAC2_uc003lic.2_Missense_Mutation_p.G843R|PCDHAC2_uc003lif.2_Missense_Mutation_p.G852R|PCDHAC2_uc003lie.1_Missense_Mutation_p.G852R|PCDHAC2_uc003lih.2_Missense_Mutation_p.G865R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	909	4 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGAGGCAGGAGAAGTGTC	0.512000														59			13		0	0	0.000308642	0	0
PPP1R36	145376	broad.mit.edu	37	14	65055931	65055931	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:65055931C>T	uc001xhl.1	+	11	1240	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S	PPP1R36_uc001xhm.1_Missense_Mutation_p.P112S	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	382																	CCCCCTTGATCCAGAAGAAAA	0.433000														46			7		0	0	0.000157383	0	0
MFF	56947	broad.mit.edu	37	2	228197249	228197249	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228197249G>T	uc002vos.3	+	4	786	c.374G>T	c.(373-375)aGa>aTa	p.R125I	MFF_uc002vot.3_Missense_Mutation_p.R99I|MFF_uc002vow.3_Missense_Mutation_p.R99I|MFF_uc002voy.3_Missense_Mutation_p.R125I|MFF_uc021vxu.1_Missense_Mutation_p.R99I|MFF_uc002voz.3_Missense_Mutation_p.R99I	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	125						integral to membrane|mitochondrial outer membrane		p.E124E(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CTGAGTGAAAGACCACTAGAT	0.398000														647			108		3.88712e-47	1.85986e-46	0.000781405	1	0
SLC24A1	9187	broad.mit.edu	37	15	65943172	65943172	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:65943172G>A	uc010ujf.2	+	6	2972	c.2685G>A	c.(2683-2685)gaG>gaA	p.E895E	SLC24A1_uc010ujd.1_Silent_p.E877E|SLC24A1_uc010uje.1_Silent_p.E877E|SLC24A1_uc010ujg.2_Silent_p.E895E|SLC24A1_uc010ujh.2_Silent_p.E877E|SLC24A1_uc010uji.2_Silent_p.E222E	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	895					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAAATGAAGAGCCTCTGTCCC	0.582000														37			9		0	0	0.000442599	0	0
CDH4	1002	broad.mit.edu	37	20	60503423	60503423	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:60503423C>T	uc002ybn.2	+	11	2035	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F	CDH4_uc002ybr.2_Silent_p.F612F|CDH4_uc002ybp.2_Silent_p.F575F	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	649	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.F649F(2)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCTACGTCTTCGAGCTGCCCT	0.657000														99			9		0	0	0.000442599	0	0
FLG2	388698	broad.mit.edu	37	1	152324960	152324960	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152324960C>T	uc001ezw.4	-	2	5375	c.5302G>A	c.(5302-5304)Gga>Aga	p.G1768R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1768							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATAGTTCCATGTCTCTCA	0.502000														73			46		0	0	0.000680045	0	0
HERC2	8924	broad.mit.edu	37	15	28424363	28424363	+	Missense_Mutation	SNP	C	T	T	rs137879939		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:28424363C>T	uc001zbj.3	-	57	9050	c.8944G>A	c.(8944-8946)Gtt>Att	p.V2982I		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2982					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACGAAGGAACCTTTATCTAC	0.289000														114			24		0	0	0.00106085	0	0
KCNB1	3745	broad.mit.edu	37	20	47990206	47990206	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47990206C>T	uc002xur.1	-	1	2057	c.1891G>A	c.(1891-1893)Ggt>Agt	p.G631S	KCNB1_uc002xus.1_Missense_Mutation_p.G631S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	631					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCACTGGCACCCAGAGCTCCC	0.592000														28			14		0	0	0.00185496	0	0
PRSS38	339501	broad.mit.edu	37	1	228003501	228003501	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:228003501C>T	uc001hrh.3	+	0	84	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	28					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGGCCCCTCCCCGGGTCGCAG	0.697000														27			5		0	0	0.00116845	0	0
KIAA0317	9870	broad.mit.edu	37	14	75151229	75151229	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:75151229G>A	uc001xqb.3	-	3	676	c.171C>T	c.(169-171)ccC>ccT	p.P57P	KIAA0317_uc010tut.1_Intron|KIAA0317_uc001xqd.1_Intron	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	57					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TGCAAGACCGGGGATCCAGGT	0.567000														20			7		0	0	0.000274275	0	0
TAB3	257397	broad.mit.edu	37	X	30871041	30871041	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:30871041G>A	uc004dcj.3	-	6	2227	c.1564C>T	c.(1564-1566)Caa>Taa	p.Q522*	TAB3_uc004dck.3_Nonsense_Mutation_p.Q522*|TAB3_uc010ngl.3_Nonsense_Mutation_p.Q522*	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	522					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						CTTGCTCGTTGATGTAACAGC	0.403000														14			6		0	0	0.00198382	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299840	145299840	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:145299840C>T	uc021oul.1	+	5	924	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.P297S|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	297								p.R296H(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATTGCGCCCCCAGCTGGC	0.483000														424			18		0	0	0.00178596	0	0
KIF26A	26153	broad.mit.edu	37	14	104641894	104641894	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:104641894G>A	uc001yos.4	+	11	2769	c.2769G>A	c.(2767-2769)caG>caA	p.Q923Q		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	923					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	p.D922N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGGGTGACCAGAGAGAGGACA	0.672000														25			4		0	0	0.00116845	0	0
GATA4	2626	broad.mit.edu	37	8	11615832	11615832	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:11615832G>A	uc011kxc.1	+	5	1637	c.1180G>A	c.(1180-1182)Ggg>Agg	p.G394R	GATA4_uc003wub.1_Missense_Mutation_p.G187R|GATA4_uc003wuc.2_Missense_Mutation_p.G393R|C8orf49_uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	393					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GTCTGGCCATGGGCCCTCCAT	0.612000														138			24		0	0	0.000878237	0	0
C12orf35	55196	broad.mit.edu	37	12	32137514	32137515	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:32137514_32137515CC>TT	uc001rks.3	+	3	4039_4040	c.3625_3626CC>TT	c.(3625-3627)cct>TTt	p.P1209F		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1209										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			GCAGTGTTCTCCTTTGGATACC	0.421000														24			19		0	0	6.4e-05	0	0
RNF103	7844	broad.mit.edu	37	2	86831623	86831623	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:86831623G>A	uc002srn.3	-	3	2392	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Silent_p.F328F|RNF103_uc021vkg.1_Silent_p.F463F|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	467					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CAATCGGGTGGAAGAGGTAGC	0.448000														41			11		0	0	0.00136819	0	0
BDP1	55814	broad.mit.edu	37	5	70845412	70845413	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:70845412_70845413CC>TT	uc003kbp.1	+	33	7237_7238	c.6974_6975CC>TT	c.(6973-6975)acc>aTT	p.T2325I	BDP1_uc003kbq.1_Intron|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2325					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAGTGAATACCGAAGAAAGGG	0.411000														79			12		0	0	6.4e-05	0	0
CDHR4	389118	broad.mit.edu	37	3	49836345	49836345	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49836345C>T	uc010hkz.3	-	3	418	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	CDHR4_uc003cxp.2_Missense_Mutation_p.G162E|CDHR4_uc011bcw.2_Missense_Mutation_p.E137K	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	137					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TGAATCATTTCCCCAGCTGGC	0.637000														20			5		0	0	0.000602214	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038784	122038784	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:122038784G>A	uc002tmx.3	-	1	219	c.126C>T	c.(124-126)gcC>gcT	p.A42A	TFCP2L1_uc010flr.3_Silent_p.A42A	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	42	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTGGCAGGCGGGCCTCGTTCT	0.607000														170			43		0	0	0.000781405	0	0
PDE3A	5139	broad.mit.edu	37	12	20790115	20790115	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:20790115C>T	uc001reh.2	+	8	2123	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	PDE3A_uc021qwa.1_Missense_Mutation_p.P373S	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	695					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGGAATTTTCCAATTTTTGA	0.333000														17			10		0	0	0.00185496	0	0
RYR3	6263	broad.mit.edu	37	15	33835822	33835822	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:33835822G>A	uc001zhi.3	+	8	717	c.647_splice	c.e8-1	p.G216_splice	RYR3_uc010bar.3_Splice_Site_p.G216_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	216	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCTCTTACAGGATACCTACT	0.398000														58			14		0	0	0.000308642	0	0
TG	7038	broad.mit.edu	37	8	134146969	134146970	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:134146969_134146970GG>AA	uc003ytw.3	+	47	8279_8280	c.8238_8239GG>AA	c.(8236-8241)acggct>acAAct	p.A2747T	TG_uc010mdw.3_Missense_Mutation_p.A1506T|TG_uc011ljb.2_Missense_Mutation_p.A1116T|TG_uc011ljc.2_Missense_Mutation_p.A880T	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2747					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGAGTTGACGGCTGGATCTGG	0.554000														28			5		0	0	6.4e-05	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558978	36558978	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:36558978G>C	uc001bzt.3	+	5	1136	c.1083G>C	c.(1081-1083)caG>caC	p.Q361H		NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA.	361						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GTGTCTTCCAGAAGAGTTGAT	0.572000														124			40		0	0	0.000509022	0	0
TSPEAR	54084	broad.mit.edu	37	21	45948356	45948356	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45948356C>T	uc002zfe.1	-	5	967	c.901G>A	c.(901-903)Gag>Aag	p.E301K	TSPEAR_uc010gpv.1_Missense_Mutation_p.E233K	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	301					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAGACCCACTCGTTGCCAACA	0.632000														124			28		0	0	0.001512	0	0
ZFR2	23217	broad.mit.edu	37	19	3823267	3823267	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3823267C>T	uc002lyw.2	-	7	1360	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	450						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCCGGGCCCACCGGCTGCGCA	0.622000														195			45		0	0	0.000781405	0	0
MMP28	79148	broad.mit.edu	37	17	34095316	34095316	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:34095316G>A	uc002hjy.1	-	6	1189	c.930C>T	c.(928-930)ccC>ccT	p.P310P	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	311					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCTTCCTTGGGGGCTGTAGG	0.552000														30			23		0	0	0.000375601	0	0
CCDC105	126402	broad.mit.edu	37	19	15131429	15131429	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:15131429C>T	uc002nae.2	+	2	931	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	278					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CACACAGGGTCAGAAAACGCC	0.602000														24			6		0	0	0.00198382	0	0
RNF165	494470	broad.mit.edu	37	18	44027629	44027629	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44027629C>T	uc002lcb.1	+	3	640	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	RNF165_uc002lby.1_Missense_Mutation_p.P130S|RNF165_uc010dnn.1_5'UTR	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	197							zinc ion binding	p.P197L(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCACCACTTTCCCAGAAACTC	0.567000														84			31		0	0	0.000953801	0	0
PCNT	5116	broad.mit.edu	37	21	47847571	47847571	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:47847571C>T	uc002zji.4	+	33	7463	c.7356C>T	c.(7354-7356)gaC>gaT	p.D2452D	PCNT_uc002zjj.3_Silent_p.D2334D	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2452					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGAGGGGACCTTCTGCAGG	0.567000														87			15		0	0	0.000566183	0	0
CREBBP	1387	broad.mit.edu	37	16	3819257	3819257	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:3819257G>T	uc002cvv.3	-	14	3182	c.2978C>A	c.(2977-2979)cCt>cAt	p.P993H	CREBBP_uc002cvw.3_Missense_Mutation_p.P955H	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	993					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.P993fs*5(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCCAGCACAGGTACGTCAGG	0.602000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							104			7		0.00198382	0.00929871	0.00198382	1	0
TBCE	6905	broad.mit.edu	37	1	235600750	235600750	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:235600750C>T	uc010pxr.1	+	12	1353	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Silent_p.I359I|TBCE_uc001hxa.1_Silent_p.I359I|TBCE_uc001hxb.1_Silent_p.I246I	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	359					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TACTCATTATCGCCAGCATTG	0.463000														51			25		0	0	0.00127121	0	0
KLB	152831	broad.mit.edu	37	4	39408668	39408668	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:39408668G>A	uc003gua.3	+	0	196	c.99G>A	c.(97-99)ggG>ggA	p.G33G	KLB_uc011byj.2_Silent_p.G33G	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	33					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGTCCAACGGGGGATTGCAAA	0.438000														46			9		0	0	0.000274275	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423396	142423396	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142423396C>T	uc010lol.1	+	1	85	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTTTACAGGCCCCCTGGAAGC	0.483000														38			5		0	0	0.000157383	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524006	24524006	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:24524006C>T	uc002wtw.1	+	1	906	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	91					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GGCCCAACATCATCCTCTATT	0.657000														59			18		0	0	0.00074312	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246131	47246131	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:47246131G>A	uc002ion.2	+	9	1423	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	B4GALNT2_uc010wlt.1_Missense_Mutation_p.G369E|B4GALNT2_uc010wlu.1_Missense_Mutation_p.G395E	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	455					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AAGAGGATGGGATTTTTCCAA	0.557000														17			10		0	0	0.000978159	0	0
HSPA2	3306	broad.mit.edu	37	14	65008167	65008167	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:65008167C>T	uc001xhj.3	+	1	676	c.600C>T	c.(598-600)atC>atT	p.I200I	HSPA2_uc001xhk.4_Silent_p.I200I	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	200					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACGTGCTCATCTTTGACCTGG	0.647000														139			37		0	0	0.00195071	0	0
LCE2C	353140	broad.mit.edu	37	1	152648591	152648591	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152648591C>T	uc021ozc.1	+	0	100	c.100C>T	c.(100-102)Cca>Tca	p.P34S	LCE2C_uc001fah.3_Missense_Mutation_p.P34S	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	34	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			caaATGCCCACCACAGTGCCC	0.602000														87			17		0	0	0.00074312	0	0
DMWD	1762	broad.mit.edu	37	19	46289884	46289884	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:46289884G>A	uc002pdj.1	-	2	916	c.870C>T	c.(868-870)ttC>ttT	p.F290F	DMWD_uc021uwc.1_5'UTR|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	290					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCGAGAAGGCGAACTCGTTGA	0.652000														28			10		0	0	0.000673444	0	0
C15orf24	56851	broad.mit.edu	37	15	34376656	34376656	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:34376656G>A	uc001zhm.3	-	4	621	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	203						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		CTCATGGTTGGAATTCAGCAT	0.408000														116			30		0	0	0.00178596	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20484046	20484046	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:20484046G>A	uc002wrz.3	-	34	5300	c.5157C>T	c.(5155-5157)ttC>ttT	p.F1719F	RALGAPA2_uc002wry.3_Silent_p.F1334F|RALGAPA2_uc010zsg.2_Silent_p.F1167F|RALGAPA2_uc002wsa.1_Silent_p.F491F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1719	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGAAACATGGAAAATCACTT	0.542000														48			23		0	0	0.000586117	0	0
KIAA1429	25962	broad.mit.edu	37	8	95503874	95503874	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:95503874G>A	uc003ygo.2	-	21	5143	c.5072C>T	c.(5071-5073)tCa>tTa	p.S1691L	KIAA1429_uc010maz.2_Intron	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1691					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTATTGCCTGAAAACCCACC	0.433000														74			24		0	0	0.000375601	0	0
SRD5A1	6715	broad.mit.edu	37	5	6652106	6652106	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:6652106C>T	uc003jdw.3	+	1	635	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Intron	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	149					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	GGTAACAGATCCCCGTTTTCT	0.443000														86			15		0	0	0.000566183	0	0
TNN	63923	broad.mit.edu	37	1	175066590	175066590	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:175066590G>A	uc001gkl.1	+	7	1739	c.1626G>A	c.(1624-1626)gtG>gtA	p.V542V	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	542	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R541L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGACCGGGTGACTGAGAATA	0.512000														28			8		0	0	0.000274275	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964370	88964370	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:88964370G>A	uc011khi.2	+	3	2612	c.2074G>A	c.(2074-2076)Gga>Aga	p.G692R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	692						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTCCGGATGTGGAAACCAAAG	0.448000										HNSCC(36;0.09)				14			10		0	0	0.000442599	0	0
CCDC80	151887	broad.mit.edu	37	3	112337925	112337925	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:112337925C>T	uc003dzf.3	-	3	2280	c.2062G>A	c.(2062-2064)Gat>Aat	p.D688N	CCDC80_uc011bhv.2_Missense_Mutation_p.D688N|CCDC80_uc003dzg.3_Missense_Mutation_p.D688N|CCDC80_uc003dzh.1_Missense_Mutation_p.D688N	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	688										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTTCATCATCCACCACTCGC	0.458000														36			7		0	0	0.000157383	0	0
FOXA2	3170	broad.mit.edu	37	20	22563420	22563421	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:22563420_22563421GG>AA	uc002wsm.3	-	1	644_645	c.459_460CC>TT	c.(457-462)gacccc>gaTTcc	p.P154S	FOXA2_uc002wsn.3_Missense_Mutation_p.P148S	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	148					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TAGGTCTTGGGGTCGCGGGCGC	0.678000														102			29		0	0	6.4e-05	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212908	26212908	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:26212908G>A	uc022buc.1	+	0	945	c.945G>A	c.(943-945)ggG>ggA	p.G315G	MAGEB6_uc004dbr.3_Silent_p.G315G	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	315	MAGE.							p.G315W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTCTGTTGGGGATATATGATG	0.507000														50			29		0	0	0.000953801	0	0
TRIM60	166655	broad.mit.edu	37	4	165962219	165962219	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:165962219G>A	uc003iqy.1	+	2	1165	c.995G>A	c.(994-996)aGa>aAa	p.R332K	TRIM60_uc010iqx.1_Missense_Mutation_p.R332K|TRIM60_uc021xty.1_Missense_Mutation_p.R332K	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	332	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GACCCAAGGAGATTTTATGTC	0.418000														114			25		0	0	0.000720815	0	0
ARID3A	1820	broad.mit.edu	37	19	965058	965058	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:965058C>T	uc002lql.3	+	5	1466	c.1176C>T	c.(1174-1176)acC>acT	p.T392T		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	392						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCATCACCCCCGCCCCTA	0.627000														35			13		0	0	0.00185496	0	0
ITSN2	50618	broad.mit.edu	37	2	24536370	24536370	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:24536370G>A	uc002rfe.2	-	3	405	c.147C>T	c.(145-147)ttC>ttT	p.F49F	ITSN2_uc002rff.2_Silent_p.F49F|ITSN2_uc002rfg.3_Silent_p.F49F|ITSN2_uc010eyd.2_Silent_p.F49F	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	49	EH 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGATTGTAGGAAAAAATTAC	0.328000														57			26		0	0	0.00178596	0	0
F8	2157	broad.mit.edu	37	X	154159549	154159549	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:154159549G>A	uc004fmt.3	-	13	2687	c.2516C>T	c.(2515-2517)cCa>cTa	p.P839L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	839	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCAGGTGATGGATCATCAGA	0.453000														14			5		0	0	0.00116845	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47076520	47076520	+	Silent	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:47076520C>A	uc002iom.3	+	1	559	c.225C>A	c.(223-225)ccC>ccA	p.P75P	IGF2BP1_uc010dbj.3_Silent_p.P75P	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	75	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATTCGGTGCCCAAAAAACAAA	0.488000														48			7		1.12685e-05	5.35098e-05	0.000274275	1	0
AGTR2	186	broad.mit.edu	37	X	115303666	115303666	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:115303666G>A	uc022cdd.1	+	0	133	c.133G>A	c.(133-135)Gat>Aat	p.D45N	AGTR2_uc004eqh.4_Missense_Mutation_p.D45N	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	45					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TAAGCATTTAGATGCAATTCC	0.373000														13			8		0	0	0.000673444	0	0
DENND3	22898	broad.mit.edu	37	8	142202474	142202474	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:142202474C>T	uc003yvy.3	+	20	3462	c.3184C>T	c.(3184-3186)Cat>Tat	p.H1062Y	DENND3_uc010mep.3_Missense_Mutation_p.H1023Y|DENND3_uc003ywa.1_Missense_Mutation_p.H112Y|DENND3_uc003ywb.3_Missense_Mutation_p.H112Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	1062										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGATCCCTCCATCAAGAATT	0.522000														66			19		0	0	0.00121646	0	0
LAMA1	284217	broad.mit.edu	37	18	7037703	7037703	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:7037703C>T	uc002knm.3	-	11	1705	c.1611G>A	c.(1609-1611)agG>agA	p.R537R	LAMA1_uc010wzj.2_Silent_p.R13R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	537	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGGATCTTCCTGGGACTGA	0.483000														33			16		0	0	0.000958276	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153538	133153538	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:133153538G>A	uc003ytj.3	-	9	1528	c.1303C>T	c.(1303-1305)Cct>Tct	p.P435S	KCNQ3_uc003yti.3_Missense_Mutation_p.P315S|KCNQ3_uc010mdt.3_Missense_Mutation_p.P435S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	435					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTACCACGAGGATTAGAAAGG	0.413000														43			9		0	0	0.00136819	0	0
COL1A1	1277	broad.mit.edu	37	17	48268796	48268796	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:48268796C>T	uc002iqm.3	-	31	2309	c.2183G>A	c.(2182-2184)gGa>gAa	p.G728E		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	728	Triple-helical region.		G -> R (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGCATTCCCTGAAGGCC	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							61			34		0	0	0.000509022	0	0
MYO3B	140469	broad.mit.edu	37	2	171248918	171248918	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:171248918G>A	uc002ufy.3	+	15	1847	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V	MYO3B_uc002ufv.3_Silent_p.V555V|MYO3B_uc010fqb.1_Silent_p.V568V|MYO3B_uc002ufz.3_Silent_p.V568V|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	568	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTGGAAGGGTGATGCACGACA	0.413000														37			11		0	0	0.00185496	0	0
NPAS4	266743	broad.mit.edu	37	11	66192568	66192568	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:66192568C>T	uc001ohx.1	+	6	2383	c.2207C>T	c.(2206-2208)cCa>cTa	p.P736L	NPAS4_uc010rpc.1_Missense_Mutation_p.P526L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	736					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCAGAGGGCCCAGGAGGGGCC	0.582000														41			22		0	0	0.00229938	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444573	82444573	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:82444573G>A	uc002bgt.1	-	17	2391	c.2222C>T	c.(2221-2223)aCc>aTc	p.T741I	EFTUD1_uc002bgu.1_Missense_Mutation_p.T690I	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	741					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGTTGTTATGGTGATTAGCCC	0.428000														76			20		0	0	0.00188189	0	0
IL4R	3566	broad.mit.edu	37	16	27356321	27356321	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:27356321C>T	uc002don.3	+	4	583	c.341C>T	c.(340-342)tCc>tTc	p.S114F	IL4R_uc002dom.3_Missense_Mutation_p.S114F|IL4R_uc002dop.4_Missense_Mutation_p.S99F|IL4R_uc010bxy.3_Missense_Mutation_p.S114F|IL4R_uc002doo.3_5'UTR	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	114					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGAAGGGCTCCTTCAAGCCC	0.667000														54			17		0	0	0.000958276	0	0
TMEM130	222865	broad.mit.edu	37	7	98445712	98445712	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:98445712G>A	uc003upo.3	-	7	1464	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	TMEM130_uc011kiq.2_Silent_p.P394P|TMEM130_uc011kir.2_Silent_p.P413P|TMEM130_uc003upn.3_Silent_p.P311P	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	425						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACTTATAGAGGGGCGGGAGCA	0.557000														58			8		0	0	0.000673444	0	0
EXD1	161829	broad.mit.edu	37	15	41509322	41509322	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:41509322G>A	uc010ucv.2	-	3	505	c.233C>T	c.(232-234)tCa>tTa	p.S78L	EXD1_uc001znk.3_Missense_Mutation_p.S20L	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	20	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGCTCTCACTGAGCCTTGTTC	0.358000														39			16		0	0	0.000958276	0	0
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:135692539G>A	uc003lbn.2	-	1	759	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_uc010jef.2_Silent_p.I170I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I179I|TRPC7_uc010jei.2_Silent_p.I179I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	179					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607000														146			30		0	0	0.000491102	0	0
PKP2	5318	broad.mit.edu	37	12	32996197	32996197	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:32996197G>A	uc001rlj.4	-	5	1544	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	PKP2_uc001rlk.4_Intron|PKP2_uc010skj.2_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	477					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ttacaggcgtgagccaccgcg	0.557000														29			17		0	0	0.000422831	0	0
MYF5	4617	broad.mit.edu	37	12	81112737	81112737	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:81112737G>C	uc001szg.2	+	2	810	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	225					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.L224L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCCTCTCCAGGATCTGGCTT	0.483000														42			32		0	0	0.0024448	0	0
AGBL1	123624	broad.mit.edu	37	15	86808009	86808009	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:86808009G>A	uc002blz.1	+	9	1549	c.1469G>A	c.(1468-1470)tGg>tAg	p.W490*	AGBL1_uc002bma.1_Nonsense_Mutation_p.W221*|AGBL1_uc002bmb.1_Nonsense_Mutation_p.W184*	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	490					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCTGATGTCTGGGGACACTGT	0.507000														60			11		0	0	0.000978159	0	0
GPD2	2820	broad.mit.edu	37	2	157439382	157439382	+	Silent	SNP	C	T	T	rs144944634		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:157439382C>T	uc002tzf.4	+	16	2496	c.2136C>T	c.(2134-2136)ctC>ctT	p.L712L	GPD2_uc010zch.2_Silent_p.L485L|GPD2_uc002tzd.4_Silent_p.L712L|GPD2_uc002tze.1_Non-coding_Transcript|GPD2_uc021vrl.1_5'Flank	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	712					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AAGAGAACCTCGACAGAAGAG	0.433000														25			10		0	0	0.000673444	0	0
STIL	6491	broad.mit.edu	37	1	47755223	47755223	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47755223G>A	uc001crd.1	-	8	1062	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L256F|STIL_uc010omo.1_Missense_Mutation_p.L303F|STIL_uc001crc.1_Missense_Mutation_p.L303F|STIL_uc001cre.1_Missense_Mutation_p.L303F|STIL_uc001crg.1_Missense_Mutation_p.L256F	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	303					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATAGAATAGAGAACTATGATG	0.338000														169			10		0	0	0.000978159	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378861	92378861	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:92378861G>A	uc003yez.3	+	13	1781	c.1542G>A	c.(1540-1542)ctG>ctA	p.L514L	SLC26A7_uc003yex.3_Silent_p.L514L|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.L514L	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	514	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.F513F(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGTTTTCCTGAATGCAAAAA	0.338000														68			22		0	0	0.00229938	0	0
LRRN1	57633	broad.mit.edu	37	3	3887687	3887687	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:3887687A>T	uc003bpt.4	+	1	2123	c.1362A>T	c.(1360-1362)gaA>gaT	p.E454D	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E454D	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	454	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTGAGCCAGAACCTGAAATTT	0.443000														46			24		0	0	0.000375601	0	0
YTHDC1	91746	broad.mit.edu	37	4	69202762	69202762	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:69202762G>A	uc003hdx.3	-	3	1219	c.866C>T	c.(865-867)tCa>tTa	p.S289L	YTHDC1_uc003hdy.3_Missense_Mutation_p.S289L	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	289										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATCTGTGCCTGAACCAGATCT	0.373000														63			10		0	0	0.00185496	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16942109	16942109	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrY:16942109G>A	uc011nas.1	+	5	1550	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	NLGN4Y_uc004fte.2_Silent_p.R269R|NLGN4Y_uc004ftg.2_Silent_p.R437R|NLGN4Y_uc004ftf.2_Silent_p.R130R|NLGN4Y_uc004fth.2_Silent_p.R437R	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	437					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						AGACGCGGCGGAAAACCCTGG	0.587000														13			11		0	0	0.00074312	0	0
LIPC	3990	broad.mit.edu	37	15	58840562	58840562	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:58840562G>A	uc010bga.2	+	7	1450	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	LIPC_uc010bfz.1_Missense_Mutation_p.R281Q|LIPC_uc002afa.2_Missense_Mutation_p.R281Q|LIPC_uc010bgb.1_Missense_Mutation_p.R179Q|LIPC_uc010ugy.2_Missense_Mutation_p.R220Q	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	281					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCCCACGAGCGATCGGTGCAC	0.572000														97			27		0	0	0.001512	0	0
KLHDC3	116138	broad.mit.edu	37	6	42987057	42987057	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:42987057C>T	uc003otl.3	+	9	1340	c.1035C>T	c.(1033-1035)gcC>gcT	p.A345A	RRP36_uc003otp.1_5'Flank|KLHDC3_uc003otn.3_Silent_p.A229A|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Silent_p.A330A|KLHDC3_uc003oto.3_Silent_p.A286A	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	345					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAAACTGGCCGTGATTCAGT	0.498000														216			171		0	0	0.000781405	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093036	43093036	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:43093036G>A	uc002oud.2	-	3	960	c.858C>T	c.(856-858)atC>atT	p.I286I	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	286	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TGATGTTGGGGATAAAGAGCT	0.498000														27			15		0	0	0.000219431	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795907	21795907	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21795907G>A	uc001wag.3	+	16	2836	c.2836G>A	c.(2836-2838)Gat>Aat	p.D946N	RPGRIP1_uc001wah.3_Missense_Mutation_p.D588N|RPGRIP1_uc001wai.3_Missense_Mutation_p.D272N|RPGRIP1_uc001wak.3_Missense_Mutation_p.D421N|RPGRIP1_uc010aim.3_Missense_Mutation_p.D329N|RPGRIP1_uc001wal.3_Missense_Mutation_p.D305N|RPGRIP1_uc001wam.3_Missense_Mutation_p.D263N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	946					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TAAGGGGAAGGATACCAAGGA	0.473000														23			9		0	0	0.000274275	0	0
FAM83C	128876	broad.mit.edu	37	20	33880001	33880001	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:33880001G>A	uc021wck.1	-	0	225	c.107C>T	c.(106-108)cCg>cTg	p.P36L	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	36										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGCACCAGCGGTGAGCTCTC	0.756000														30			9		0	0	0.00185496	0	0
ZNF536	9745	broad.mit.edu	37	19	31039159	31039159	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:31039159C>T	uc002nsu.1	+	3	2771	c.2633C>T	c.(2632-2634)tCg>tTg	p.S878L	ZNF536_uc010edd.1_Missense_Mutation_p.S878L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCATGTCTTCGGAGGTCCCC	0.557000														67			35		0	0	0.00170553	0	0
KCTD6	200845	broad.mit.edu	37	3	58486915	58486915	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:58486915G>A	uc003dkj.4	+	2	387	c.270G>A	c.(268-270)cgG>cgA	p.R90R	KCTD6_uc003dkk.4_Silent_p.R90R	NM_001128214	NP_699162	Q8NC69	KCTD6_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 6 (KCTD6), transcript variant 2, mRNA.	90						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		ATCTGCTTCGGAAAGAAGCAG	0.393000														80			29		0	0	0.00209593	0	0
PSD3	23362	broad.mit.edu	37	8	18729663	18729663	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:18729663C>T	uc003wza.3	-	2	814	c.711G>A	c.(709-711)agG>agA	p.R237R		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	237					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGCCCCTTTCCTCCCATTAT	0.507000														43			8		0	0	0.000274275	0	0
DAPK3	1613	broad.mit.edu	37	19	3964360	3964360	+	Silent	SNP	G	A	A	rs112082802		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3964360G>A	uc002lzc.1	-	2	529	c.435C>T	c.(433-435)atC>atT	p.I145I	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.I145I|DAPK3_uc021umy.1_5'Flank	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	145	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCATGATGTTTTCCG	0.622000														54			19		0	0	0.000375601	0	0
OR7A5	26659	broad.mit.edu	37	19	14938326	14938326	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14938326G>A	uc002mzw.3	-	0	951	c.728C>T	c.(727-729)tCt>tTt	p.S243F	OR7A5_uc010xoa.2_Missense_Mutation_p.S243F	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGAGAGGTGAGATGCACAGGT	0.473000														44			19		0	0	0.00229938	0	0
PARVA	55742	broad.mit.edu	37	11	12540005	12540005	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:12540005C>T	uc001mki.3	+	11	1152	c.983C>T	c.(982-984)tCc>tTc	p.S328F		NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	Homo sapiens parvin, alpha (PARVA), mRNA.	328	CH 2.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	p.S328S(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		TTGAATGTCTCCTTTGCCTTT	0.542000														30			4		0	0	0.00116845	0	0
TSPAN18	90139	broad.mit.edu	37	11	44931278	44931278	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:44931278C>T	uc001myg.3	+	1	96	c.86C>T	c.(85-87)gCc>gTc	p.A29V	TSPAN18_uc001mye.4_Missense_Mutation_p.A29V|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	29						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TGCCTGCTGGCCATCGGCATC	0.657000														64			28		0	0	0.00058488	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866140	131866140	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:131866140C>T	uc003vra.4	-	18	3721	c.3492_splice	c.e18+1	p.K1164_splice		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1164	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCACTCCACCTTTAGGATGA	0.567000														121			42		0	0	0.000781405	0	0
OR6C4	341418	broad.mit.edu	37	12	55945146	55945146	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:55945146C>T	uc010spp.2	+	0	136	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TATTATCACCCTCACCTTACT	0.418000														57			30		0	0	0.000692331	0	0
TEX11	56159	broad.mit.edu	37	X	69964064	69964064	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:69964064C>T	uc004dyl.3	-	10	905	c.743G>A	c.(742-744)aGc>aAc	p.S248N	TEX11_uc004dym.3_Missense_Mutation_p.S233N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	248							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AATATCATAGCTTTGGCTATC	0.249000														14			4		0	0	0.00024832	0	0
PASD1	139135	broad.mit.edu	37	X	150841117	150841117	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:150841117G>A	uc004fev.4	+	13	2232	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	634						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCAACAGGAAGATGAGAG	0.473000														23			11		0	0	0.00136819	0	0
SP110	3431	broad.mit.edu	37	2	231035360	231035360	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:231035360G>A	uc002vqg.3	-	17	2245	c.2005C>T	c.(2005-2007)Cgc>Tgc	p.R669C	SP110_uc002vqh.3_Missense_Mutation_p.R645C	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	645	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTATGGTTGCGAAACATCAGG	0.443000														43			14		0	0	0.00074312	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698599	17698599	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:17698599C>T	uc002rcl.1	-	0	1108	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	RAD51AP2_uc010exn.1_Missense_Mutation_p.D353N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	362								p.D362N(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTCTAGAGTCTCTTACATTA	0.378000														65			25		0	0	0.000720815	0	0
IL12RB1	3594	broad.mit.edu	37	19	18182980	18182980	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18182980C>T	uc002nhx.1	-	9	1134	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S	IL12RB1_uc002nhw.1_Silent_p.S321S|IL12RB1_uc010xqb.1_Silent_p.S321S|IL12RB1_uc002nhy.3_Silent_p.S321S	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	321	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAAATTGGTTCGAGGAGATGA	0.627000														36			12		0	0	0.00185496	0	0
FRMD4B	23150	broad.mit.edu	37	3	69239092	69239092	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:69239092G>A	uc003dnv.2	-	17	2016	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.P228S|FRMD4B_uc011bga.1_Missense_Mutation_p.P420S	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	576						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTCTCTGAGGGGATTATGTCT	0.328000														64			17		0	0	0.00074312	0	0
NAV3	89795	broad.mit.edu	37	12	78583938	78583938	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:78583938C>T	uc001syp.3	+	33	6403	c.6230C>T	c.(6229-6231)tCt>tTt	p.S2077F	NAV3_uc001syo.3_Missense_Mutation_p.S2055F|NAV3_uc010sub.2_Missense_Mutation_p.S1534F|NAV3_uc009zsf.3_Missense_Mutation_p.S886F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2077						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S2055F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATAACCAAATCTGGAAGGAAA	0.373000										HNSCC(70;0.22)				17			14		0	0	0.000219431	0	0
LSG1	55341	broad.mit.edu	37	3	194373548	194373548	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:194373548G>A	uc003fui.3	-	7	1398	c.1083C>T	c.(1081-1083)agC>agT	p.S361S		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	361					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ATACCAGATGGCTAAAATTGT	0.502000														126			23		0	0	0.000375601	0	0
PGAP1	80055	broad.mit.edu	37	2	197708737	197708737	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:197708737G>A	uc002utw.3	-	24	2514	c.2400C>T	c.(2398-2400)caC>caT	p.H800H	PGAP1_uc002utx.3_Silent_p.H626H|PGAP1_uc010fsi.3_Silent_p.H74H	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	800					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AACGAAGATGGTGTATTGAGG	0.363000														42			9		0	0	0.000673444	0	0
URB2	9816	broad.mit.edu	37	1	229771720	229771720	+	Missense_Mutation	SNP	C	T	T	rs115399585	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:229771720C>T	uc001hts.1	+	3	1496	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C	URB2_uc009xfd.1_Missense_Mutation_p.R454C	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	454						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGCGCTTATTCGTACTGTCTT	0.522000														137			59		0	0	0.000781405	0	0
PDE10A	10846	broad.mit.edu	37	6	165801909	165801909	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:165801909C>T	uc003qun.3	-	17	1905	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.D484N|PDE10A_uc003quo.3_Missense_Mutation_p.D564N	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	554					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGGTCCAGGTCATGACACAGA	0.498000														54			20		0	0	0.000375601	0	0
MARCH10	162333	broad.mit.edu	37	17	60813350	60813350	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:60813350C>T	uc010dds.3	-	6	2278	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K	MARCH10_uc010ddr.3_Missense_Mutation_p.E627K|MARCH10_uc002jag.4_Missense_Mutation_p.E627K|MARCH10_uc002jah.2_Missense_Mutation_p.E626K|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Intron	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	627							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GTTTCCTTTTCATCTGTGAAA	0.378000														59			42		0	0	0.000781405	0	0
COL6A6	131873	broad.mit.edu	37	3	130308001	130308001	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130308001G>A	uc010htl.3	+	10	4224	c.4193G>A	c.(4192-4194)gGa>gAa	p.G1398E	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1398	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCACAATGGGAGATCCTGGA	0.428000														31			9		0	0	0.000673444	0	0
VPS13C	54832	broad.mit.edu	37	15	62233965	62233965	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:62233965G>A	uc002agz.3	-	45	5541	c.5450C>T	c.(5449-5451)tCa>tTa	p.S1817L	VPS13C_uc002aha.3_Missense_Mutation_p.S1774L|VPS13C_uc002ahb.2_Missense_Mutation_p.S1817L|VPS13C_uc002ahc.2_Missense_Mutation_p.S1774L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1817					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTATACCTTGACAGCTTCAA	0.313000														54			8		0	0	0.000274275	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128617	3128617	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:3128617T>C	uc021vzx.1	-	0	1100	c.1100A>G	c.(1099-1101)cAc>cGc	p.H367R	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.H367R	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	367					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTGATCCACGTGAGTGAAACG	0.438000														83			17		0	0	0.00152264	0	0
GRIN3B	116444	broad.mit.edu	37	19	1003133	1003133	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:1003133C>T	uc002lqo.1	+	1	431	c.431C>T	c.(430-432)cCa>cTa	p.P144L		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	144					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TCCCAGAACCCATTCCACCTG	0.667000														4			6		0	0	0.00198382	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285242	44285242	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:44285242C>T	uc010qfe.1	-	0	624	c.594G>A	c.(592-594)gtG>gtA	p.V198V						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		GGGCCTTTTTCACTTCACAGT	0.423000														37			8		0	0	0.000157383	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922179	159922179	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159922179G>A	uc001fus.3	-	2	654	c.537C>T	c.(535-537)ttC>ttT	p.F179F	SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	179	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCCTTCATGGAATGTATAAG	0.587000														75			11		0	0	0.00185496	0	0
KCND2	3751	broad.mit.edu	37	7	120373011	120373011	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:120373011T>A	uc003vjj.1	+	1	2135	c.1170T>A	c.(1168-1170)tgT>tgA	p.C390*		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	390					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTTCTATCTGTTCGCTGAGTG	0.413000														41			8		0	0	0.000274275	0	0
DAPK3	1613	broad.mit.edu	37	19	3964824	3964824	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3964824G>A	uc002lzc.1	-	1	322	c.228C>T	c.(226-228)atC>atT	p.I76I	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.I76I	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	76	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGTGATGATGTTGGGGT	0.617000														51			20		0	0	0.00188189	0	0
DUSP27	92235	broad.mit.edu	37	1	167097730	167097730	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167097730G>A	uc001geb.1	+	4	3378	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1121					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGTATCGGAGAAGCACT	0.512000														21			13		0	0	0.00185496	0	0
IVL	3713	broad.mit.edu	37	1	152883960	152883960	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152883960G>A	uc021ozl.1	+	0	1687	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	IVL_uc001fau.3_Missense_Mutation_p.G563R	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	563					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCACAAAGGGAGAAGTATT	0.582000														47			13		0	0	0.000422831	0	0
CCR3	1232	broad.mit.edu	37	3	46306740	46306740	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:46306740G>A	uc003cpl.2	+	2	1221	c.190G>A	c.(190-192)Gca>Aca	p.A64T	CCR3_uc003cpg.2_Missense_Mutation_p.A31T|CCR3_uc003cpk.2_Missense_Mutation_p.A52T|CCR3_uc003cpi.2_Missense_Mutation_p.A31T|CCR3_uc010hjb.2_Missense_Mutation_p.A49T|CCR3_uc003cpj.2_Missense_Mutation_p.A31T|CCR3_uc021wwz.1_Missense_Mutation_p.A31T	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	31					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGATACCAGAGCACTGATGGC	0.502000														20			9		0	0	0.000274275	0	0
SDPR	8436	broad.mit.edu	37	2	192700840	192700840	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:192700840C>T	uc002utb.3	-	1	1442	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	363						caveola|cytosol	phosphatidylserine binding|protein binding	p.G363R(2)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GAGTTACTCCCCCTGGAGGTC	0.567000														109			44		0	0	0.000781405	0	0
C17orf81	23587	broad.mit.edu	37	17	7161984	7161984	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7161984C>T	uc002gfg.1	+	6	824	c.717C>T	c.(715-717)tcC>tcT	p.S239S	C17orf81_uc010cmb.3_Silent_p.S239S|C17orf81_uc002gfh.1_Silent_p.S239S|C17orf81_uc002gfi.1_Silent_p.S239S|C17orf81_uc002gfj.3_Silent_p.S239S	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	Homo sapiens chromosome 17 open reading frame 81 (C17orf81), transcript variant 4, mRNA.	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			breast(2)|endometrium(2)|lung(9)|urinary_tract(1)	14						AGCCCTACTCCGATCCTCATA	0.488000														85			61		0	0	0.000781405	0	0
TDRD5	163589	broad.mit.edu	37	1	179604947	179604947	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:179604947C>T	uc010pnp.2	+	8	1963	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	TDRD5_uc021pfm.1_Missense_Mutation_p.S482F|TDRD5_uc001gnf.2_Missense_Mutation_p.S482F|TDRD5_uc021pfn.1_Missense_Mutation_p.S482F|TDRD5_uc001gnh.2_Missense_Mutation_p.S37F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	482					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TATATCATCTCTCCTAGTCAA	0.458000														64			7		0	0	0.000274275	0	0
PTPRJ	5795	broad.mit.edu	37	11	48185143	48185144	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:48185143_48185144CC>TT	uc001ngp.4	+	22	4047_4048	c.3692_3693CC>TT	c.(3691-3693)ccc>cTT	p.P1231L		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	1231	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGAGTCCTCCCGAATCGCCGA	0.485000														33			5		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179588149	179588149	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179588149C>T	uc021vsy.1	-	70	18171	c.17946G>A	c.(17944-17946)gtG>gtA	p.V5982V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V2643V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6909	Ig-like 41.						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)			GCAAACCTTTCACAAAGAGAC	0.398000														12			10		0	0	0.00185496	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957285	143957285	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:143957285G>A	uc010mey.3	-	7	1184	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	CYP11B1_uc010mex.3_5'UTR|CYP11B1_uc003yxh.3_Missense_Mutation_p.P38S|CYP11B1_uc003yxi.3_Missense_Mutation_p.P322S|CYP11B1_uc003yxj.3_Missense_Mutation_p.P322S	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ATCAGCAAGGGAAACACCGTC	0.647000									Familial Hyperaldosteronism type I					107			26		0	0	0.001512	0	0
OR2G6	391211	broad.mit.edu	37	1	248685667	248685667	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248685667C>T	uc001ien.1	+	0	720	c.720C>T	c.(718-720)acC>acT	p.T240T		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTTTGGGACCTGTTCGTCTC	0.458000														78			13		0	0	0.00185496	0	0
BC107108	0	broad.mit.edu	37	15	20362835	20362835	+	Missense_Mutation	SNP	G	A	A	rs140551116	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:20362835G>A	uc001yte.1	+	0	148	c.97G>A	c.(97-99)Gag>Aag	p.E33K						RecName: Full=Putative BMS1-like protein ENSP00000383088;																		GGGCAACAGCGAGGGAAATGT	0.502000														38			7		0	0	0.000274275	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174770	150174770	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150174770C>T	uc003whj.3	+	4	2230	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	634						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCGGGTATCCCCATACACA	0.398000														88			19		0	0	0.000958276	0	0
OR10R2	343406	broad.mit.edu	37	1	158449955	158449955	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158449955C>T	uc010pik.2	+	0	288	c.288C>T	c.(286-288)gtC>gtT	p.V96V	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACACCTTTGTCATTCTACCCA	0.428000														118			26		0	0	0.000878237	0	0
SPRY4	81848	broad.mit.edu	37	5	141694238	141694238	+	Missense_Mutation	SNP	G	A	A	rs138416722		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:141694238G>A	uc010jgi.1	-	2	746	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S	SPRY4_uc003lml.2_Missense_Mutation_p.P146S|SPRY4_uc021yet.1_Missense_Mutation_p.P146S	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	146	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACCGCCGGGCCCTTGAGG	0.647000									Testicular Cancer, Familial Clustering of					83			21		0	0	0.00229938	0	0
OR51F1	256892	broad.mit.edu	37	11	4790629	4790629	+	Missense_Mutation	SNP	C	T	T	rs149687850		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:4790629C>T	uc010qyl.2	-	0	519	c.519G>A	c.(517-519)atG>atA	p.M173I		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	173						integral to membrane	olfactory receptor activity	p.M173I(2)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAAGGGCATTCATTCTACAGA	0.383000														58			10		0	0	0.000978159	0	0
PLCH1	23007	broad.mit.edu	37	3	155311961	155311961	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:155311961G>A	uc021xge.1	-	2	480	c.203C>T	c.(202-204)tCc>tTc	p.S68F	PLCH1_uc021xgd.1_Missense_Mutation_p.S68F|PLCH1_uc021xgf.1_Missense_Mutation_p.S50F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	68	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.A67S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGTAAATGGAATCAATAAG	0.423000														59			14		0	0	0.000308642	0	0
DNAI1	27019	broad.mit.edu	37	9	34501173	34501173	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:34501173G>A	uc003zum.3	+	11	1250	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	353					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGTGGGATATGGCTCTTGTAA	0.403000									Kartagener syndrome					48			34		0	0	0.00111076	0	0
GAK	2580	broad.mit.edu	37	4	887176	887176	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:887176G>A	uc003gbm.4	-	8	1178	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	GAK_uc003gbn.4_Missense_Mutation_p.P248S|GAK_uc010ibk.1_Missense_Mutation_p.P221S|GAK_uc003gbl.4_Missense_Mutation_p.P191S	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	327					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCTGTGATGGGAGACTTGGGG	0.672000														30			8		0	0	0.000274275	0	0
FFAR2	2867	broad.mit.edu	37	19	35941189	35941189	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:35941189C>T	uc002nzg.2	+	1	653	c.573C>T	c.(571-573)ccC>ccT	p.P191P	FFAR2_uc010eea.3_Silent_p.P191P	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	191						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCTTCATCCCCATGGCAGTCA	0.607000														94			47		0	0	0.000781405	0	0
MCAT	27349	broad.mit.edu	37	22	43537216	43537217	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:43537216_43537217CC>AA	uc003bdl.1	-	1	511_512	c.462_463GG>TT	c.(460-465)gtggga>gtTTga	p.G155*	MCAT_uc003bdm.1_Nonsense_Mutation_p.G155*	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	155					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCAAACTCTCCCACACTGAATC	0.535000														257			9		0	0	6.4e-05	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386955	8386955	+	RNA	SNP	T	C	C	rs75997195		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:8386955T>C	uc010sgk.2	-	3		c.501A>G								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CTTGTGCTCCTGGCAGGCAGC	0.612000														74			4		0	0	0.00024832	0	0
ALPK3	57538	broad.mit.edu	37	15	85406076	85406076	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:85406076C>T	uc002ble.3	+	9	5113	c.4946C>T	c.(4945-4947)tCc>tTc	p.S1649F	ALPK3_uc010upc.2_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1649	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATCAAGGTGTCCAGCCTGCTT	0.572000														55			12		0	0	0.00136819	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576821	33576821	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:33576821C>T	uc003jia.1	-	18	3473	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1019K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1104	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E1103E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAACATTTTCCTCACTTGGC	0.512000										HNSCC(64;0.19)				35			8		0	0	0.000157383	0	0
VTN	7448	broad.mit.edu	37	17	26696014	26696014	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:26696014C>T	uc002hbc.3	-	4	854	c.705G>A	c.(703-705)ctG>ctA	p.L235L	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	235	Hemopexin-like 2.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	AATCAGGGTCCAGGACACCAT	0.597000														58			32		0	0	0.00111076	0	0
OR2A25	392138	broad.mit.edu	37	7	143771857	143771857	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143771857C>T	uc011ktx.2	+	0	545	c.545C>T	c.(544-546)gCt>gTt	p.A182V		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M181I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATTATGGCTGTTCTCAAA	0.448000														148			24		0	0	0.000586117	0	0
BAG3	9531	broad.mit.edu	37	10	121431837	121431837	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:121431837G>A	uc001lem.3	+	2	884	c.578G>A	c.(577-579)aGg>aAg	p.R193K	BAG3_uc001lel.3_Missense_Mutation_p.R193K	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	193					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TCCTCCGGCAGGAGCAGCCTG	0.642000														25			7		0	0	0.00198382	0	0
STX17	55014	broad.mit.edu	37	9	102722256	102722257	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:102722256_102722257CC>TT	uc004bal.4	+	4	609_610	c.473_474CC>TT	c.(472-474)gcc>gTT	p.A158V	STX17_uc010msx.3_Intron|STX17_uc011lvd.2_Intron	NM_017919	NP_060389	P56962	STX17_HUMAN	Homo sapiens syntaxin 17 (STX17), mRNA.	158					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAGATATATGCCTTACCTGAAA	0.366000														54			23		0	0	6.4e-05	0	0
MYH7	4625	broad.mit.edu	37	14	23886895	23886895	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23886895C>T	uc001wjx.3	-	31	4276	c.4170_splice	c.e31-1	p.K1390_splice		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1390					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGCTTCTTCCTGCCCAGGG	0.582000														19			6		0	0	0.00116845	0	0
FLG	2312	broad.mit.edu	37	1	152277644	152277644	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152277644G>A	uc001ezu.1	-	2	9754	c.9718C>T	c.(9718-9720)Cgt>Tgt	p.R3240C		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3240	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3240H(2)		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)			ACAGATCCACGATGGTTTCTG	0.592000									Ichthyosis					111			50		0	0	0.000781405	0	0
GPR128	84873	broad.mit.edu	37	3	100413737	100413737	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:100413737C>T	uc003duc.3	+	15	2554	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	GPR128_uc011bhc.2_Silent_p.F463F|GPR128_uc003dud.3_Silent_p.F285F	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	762					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTATAATTTCCTCAGGTCAT	0.458000														68			15		0	0	0.000422831	0	0
PPIG	9360	broad.mit.edu	37	2	170492625	170492625	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:170492625C>T	uc002uez.3	+	12	1261	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	PPIG_uc010fpx.3_Silent_p.S332S|PPIG_uc010fpy.3_Silent_p.S340S|PPIG_uc002ufb.3_Silent_p.S347S|PPIG_uc002ufd.3_Silent_p.S344S	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	347					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CTTCCAGATCCAGATCAAGGG	0.443000														43			20		0	0	0.000586117	0	0
TEX15	56154	broad.mit.edu	37	8	30700826	30700826	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30700826G>A	uc003xil.3	-	0	5708	c.5708C>T	c.(5707-5709)tCc>tTc	p.S1903F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1903										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGCTGAAGGATTGTGTTCT	0.348000														78			25		0	0	0.000878237	0	0
C9	735	broad.mit.edu	37	5	39285317	39285317	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:39285317A>T	uc003jlv.4	-	10	1753	c.1664T>A	c.(1663-1665)tTc>tAc	p.F555Y		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	555					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTCATTGGGGAACTCTAGGGC	0.418000														34			6		0	0	0.000274275	0	0
PON1	5444	broad.mit.edu	37	7	94993217	94993217	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:94993217C>T	uc003unt.3	-	5	678	c.653G>A	c.(652-654)gGa>gAa	p.G218E	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.G266E	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	219					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.G218E(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACTACAAAATCCTTTGGCCAC	0.428000														128			23		0	0	0.00178596	0	0
POR	5447	broad.mit.edu	37	7	75615739	75615739	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:75615739G>A	uc011kge.2	+	9	1447	c.1197G>A	c.(1195-1197)gcG>gcA	p.A399A	POR_uc003udy.3_Silent_p.A661A|POR_uc011kgc.2_Silent_p.A469A	NM_000941	NP_000932	P16435	NCPR_HUMAN	Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.	658	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	NADPH-hemoprotein reductase activity|iron ion binding			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ACGCGCAGGCGGTGGACTACA	0.637000														36			13		0	0	0.00185496	0	0
ACACB	32	broad.mit.edu	37	12	109604784	109604784	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:109604784C>T	uc001tob.3	+	2	891	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	ACACB_uc001toc.3_Missense_Mutation_p.R258W	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	258					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGGGGGGATCGGGTCATCGA	0.612000														25			14		0	0	0.00185496	0	0
PGK2	5232	broad.mit.edu	37	6	49754324	49754324	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:49754324C>T	uc003ozu.3	-	0	730	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	193					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TAATCTAGTTCCTTCTTCATC	0.458000														32			17		0	0	0.000566183	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844816	92844816	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:92844816G>A	uc011khy.2	-	3	705	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	HEPACAM2_uc003uml.3_Missense_Mutation_p.H193Y|HEPACAM2_uc010lff.3_Missense_Mutation_p.H193Y|HEPACAM2_uc003umm.3_Missense_Mutation_p.H205Y	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	205	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGAGCAATATGAAGGGTATTG	0.468000														26			21		0	0	0.000586117	0	0
RASGRF1	5923	broad.mit.edu	37	15	79265743	79265743	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:79265743G>A	uc002beq.3	-	25	3937	c.3562C>T	c.(3562-3564)Cct>Tct	p.P1188S	RASGRF1_uc002bep.3_Missense_Mutation_p.P1172S|RASGRF1_uc002beo.3_Missense_Mutation_p.P404S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	1190	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCAGGTAAGGGACACAGGGT	0.502000														38			6		0	0	0.000157383	0	0
XRCC5	7520	broad.mit.edu	37	2	216977805	216977806	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:216977805_216977806CC>AA	uc002vfy.3	+	1	228_229	c.88_89CC>AA	c.(88-90)cca>AAa	p.P30K		NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	30					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	p.P30Q(2)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TATAGAATCCCCATTTGAACAA	0.431000								Non-homologous end-joining						190			9		0	0	6.4e-05	0	0
O3FAR1	338557	broad.mit.edu	37	10	95335964	95335964	+	Silent	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:95335964C>A	uc010qnt.2	+	1	740	c.684C>A	c.(682-684)tcC>tcA	p.S228S	O3FAR1_uc010qnu.2_Silent_p.S228S	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	228					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						TCAGTTACTCCAAAATTTTAC	0.453000														138			8		0.000442599	0.00209095	0.000442599	1	0
PAPPA2	60676	broad.mit.edu	37	1	176681030	176681030	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:176681030C>T	uc001gkz.3	+	11	4875	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1237					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						GCTGGTTTCCCTGTGTTGCCA	0.453000														32			25		0	0	0.000878237	0	0
SPICE1	152185	broad.mit.edu	37	3	113172677	113172677	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:113172677G>A	uc003eag.4	-	13	2069	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.S489L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	593					cell division|mitosis	centriole|spindle	protein binding	p.S593*(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CTCTTCACTTGAATTCTGAAT	0.428000														74			40		0	0	0.000781405	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970616	45970616	+	Silent	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45970616T>A	uc002zfi.1	-	0	773	c.726A>T	c.(724-726)ccA>ccT	p.P242P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	242						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						TGCAGGAGGCTGGGCGGGAGC	0.667000														67			19		0	0	0.00152264	0	0
CSMD2	114784	broad.mit.edu	37	1	34190148	34190148	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:34190148G>A	uc001bxm.1	-	17	3030	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F	CSMD2_uc001bxn.1_Silent_p.F911F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	911	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCTCCACTGGAAGTTGGGCT	0.587000														32			11		0	0	0.00185496	0	0
KIAA1009	22832	broad.mit.edu	37	6	84904664	84904664	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:84904664G>A	uc010kbp.3	-	9	1062	c.965C>T	c.(964-966)tCa>tTa	p.S322L	KIAA1009_uc003pkj.4_Missense_Mutation_p.S246L|KIAA1009_uc003pkk.2_Missense_Mutation_p.S322L|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	322					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ACCTTTCACTGAGCTCTTGAT	0.333000														39			18		0	0	0.000958276	0	0
RHPN2	85415	broad.mit.edu	37	19	33482830	33482830	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:33482830G>C	uc002nuf.3	-	12	1609	c.1543C>G	c.(1543-1545)Cga>Gga	p.R515G	RHPN2_uc010xro.2_Missense_Mutation_p.R364G|RHPN2_uc002nue.3_Missense_Mutation_p.R245G	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	515	PDZ.				signal transduction	perinuclear region of cytoplasm	protein binding	p.R515L(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CGGATGCTTCGAGGAGGCGTC	0.547000														37			12		0	0	0.000422831	0	0
POP1	10940	broad.mit.edu	37	8	99146758	99146758	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:99146758T>C	uc003yij.4	+	6	982	c.882T>C	c.(880-882)ctT>ctC	p.L294L	POP1_uc011lgv.2_Silent_p.L294L|POP1_uc003yik.3_Silent_p.L294L	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	294					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.V293V(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCCTTGTGCTTTATCGGGTGA	0.502000														58			16		0	0	0.00121646	0	0
FCHO1	23149	broad.mit.edu	37	19	17893836	17893836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17893836C>T	uc002nhg.3	+	23	2227	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	FCHO1_uc010ebb.2_Nonsense_Mutation_p.R650*|FCHO1_uc002nhh.2_Nonsense_Mutation_p.R650*|FCHO1_uc010xpw.1_Nonsense_Mutation_p.R600*	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	650										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTGCCTGGCTCGAGTAACTGG	0.612000														42			13		0	0	0.000422831	0	0
HSPB7	27129	broad.mit.edu	37	1	16342200	16342200	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:16342200C>T	uc001axr.2	-	2	1230	c.667G>A	c.(667-669)Gag>Aag	p.E223K	HSPB7_uc001axo.2_Missense_Mutation_p.E130K|HSPB7_uc001axp.2_Missense_Mutation_p.E213K|HSPB7_uc001axq.2_Missense_Mutation_p.E222K|HSPB7_uc001axs.2_Missense_Mutation_p.E205K	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	130					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACGTCCTCCGGCAGCTGG	0.677000														106			24		0	0	0.00106085	0	0
INPP5D	3635	broad.mit.edu	37	2	234106805	234106806	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:234106805_234106806CC>TT	uc010zmo.2	+	23	2824_2825	c.2671_2672CC>TT	c.(2671-2673)ccc>TTc	p.P891F	INPP5D_uc010zmp.2_Missense_Mutation_p.P890F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	920					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGGAGTGGGGCCCTTTGGGCCA	0.634000														28			6		0	0	6.4e-05	0	0
FAM221A	340277	broad.mit.edu	37	7	23731146	23731146	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:23731146G>A	uc003swo.4	+	3	657	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	FAM221A_uc003swq.4_Missense_Mutation_p.A190T|FAM221A_uc003swr.4_Missense_Mutation_p.A132T|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA.	190																	TCCTTATGCAGCCATGGGAGG	0.478000														90			40		0	0	0.00195071	0	0
TMEM67	91147	broad.mit.edu	37	8	94792886	94792886	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:94792886C>T	uc011lgk.2	+	7	851	c.780C>T	c.(778-780)taC>taT	p.Y260Y	TMEM67_uc010mat.1_Silent_p.Y175Y|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.4_Silent_p.Y179Y	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	260					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	p.G259*(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGAATTCTTACGACTTTGCCA	0.348000														175			30		0	0	0.00178596	0	0
OR4K1	79544	broad.mit.edu	37	14	20404752	20404752	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20404752G>A	uc001vwj.2	+	0	986	c.927G>A	c.(925-927)tgG>tgA	p.W309*		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAACTCCTGGAAAAACTAGG	0.438000														38			8		0	0	0.000274275	0	0
HAUS1	115106	broad.mit.edu	37	18	43698273	43698273	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:43698273C>T	uc002lbu.3	+	2	412	c.332C>T	c.(331-333)tCg>tTg	p.S111L	HAUS1_uc002lbv.3_Missense_Mutation_p.S35L	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	111					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AAGGATACCTCGCTAGCTAGG	0.398000														58			18		0	0	0.00188189	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612670	96612670	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96612670G>A	uc010qnz.2	+	9	1473	c.1473_splice	c.e9+1	p.*491_splice	CYP2C19_uc010qny.2_Splice_Site_p.*469_splice	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	0					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATTCCTGTCTGAAGAAGCACA	0.493000														58			17		0	0	0.000958276	0	0
PITPNM3	83394	broad.mit.edu	37	17	6441394	6441394	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:6441394G>A	uc002gdd.4	-	1	182	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	PITPNM3_uc010cln.3_Missense_Mutation_p.P11S	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	11					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCGCCCGGGGGAGGACCACCT	0.557000														19			8		0	0	0.000157383	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569055	61569055	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61569055G>A	uc010xeu.2	+	6	950	c.617G>A	c.(616-618)gGa>gAa	p.G206E	SERPINB2_uc002ljo.3_Missense_Mutation_p.G206E|SERPINB2_uc002ljp.1_Missense_Mutation_p.G11E|SERPINB2_uc002ljq.1_Missense_Mutation_p.G11E	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	206					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.G206E(2)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TACTTCAAAGGAAAGTGGAAA	0.383000														31			13		0	0	0.000308642	0	0
FAM105A	54491	broad.mit.edu	37	5	14608964	14608964	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:14608964C>T	uc003jfj.3	+	6	848	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	245										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CTTTAAAGTTCATCATGCTGT	0.358000														62			7		0	0	0.00198382	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918898	144918898	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:144918898G>A	uc021ouh.1	-	9	1590	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.R430*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.R496*|PDE4DIP_uc001emd.2_Nonsense_Mutation_p.R430*|PDE4DIP_uc001emc.2_Nonsense_Mutation_p.R430*|PDE4DIP_uc001emb.1_Nonsense_Mutation_p.R593*|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	430					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGGTTCGAATCTCATTG	0.438000			T	PDGFRB	MPD									755			74		0	0	0.000781405	0	0
CDH9	1007	broad.mit.edu	37	5	26885949	26885949	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:26885949C>T	uc003jgs.1	-	10	1825	c.1656G>A	c.(1654-1656)cgG>cgA	p.R552R	CDH9_uc011cnv.1_Silent_p.R145R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	552	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R552Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGCCATCTTTCCGAGTCATGA	0.343000														50			9		0	0	0.000673444	0	0
NEB	4703	broad.mit.edu	37	2	152482047	152482047	+	Splice_Site	SNP	C	T	T	rs111863059		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152482047C>T	uc021vrb.1	-	66	9752	c.9723_splice	c.e66+1	p.E3241_splice	NEB_uc002txu.3_Splice_Site_p.E3484_splice|NEB_uc021vrc.1_Splice_Site_p.E3484_splice|NEB_uc010fnx.3_Splice_Site_p.E3229_splice|NEB_uc021vrd.1_Splice_Site_p.E3241_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3241					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGATCTTACCTCACTATAA	0.363000														21			5		0	0	0.000602214	0	0
RXFP1	59350	broad.mit.edu	37	4	159520547	159520547	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:159520547G>A	uc003ipz.3	+	3	619	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_Missense_Mutation_p.R38Q|RXFP1_uc010iqo.3_Missense_Mutation_p.R119Q|RXFP1_uc011cjb.2_Missense_Mutation_p.R65Q|RXFP1_uc011cjc.2_Missense_Mutation_p.R38Q|RXFP1_uc011cjd.2_Missense_Mutation_p.R38Q|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.R146Q|RXFP1_uc010iqm.3_Missense_Mutation_p.R86Q|RXFP1_uc011cjf.2_5'UTR|RXFP1_uc010iqn.3_Missense_Mutation_p.R65Q	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	119	LRRNT.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ACCAATTTACGAGCTGTTCCA	0.423000														34			7		0	0	0.000442599	0	0
KCNK10	54207	broad.mit.edu	37	14	88737108	88737108	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:88737108C>T	uc001xwm.3	-	0	148	c.26G>A	c.(25-27)aGg>aAg	p.R9K	KCNK10_uc001xwn.3_Intron|KCNK10_uc001xwo.3_Intron	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.F8L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						gccttcagtcctgtccccctt	0.507000														132			35		0	0	0.00195071	0	0
ACOX3	8310	broad.mit.edu	37	4	8401339	8401339	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:8401339G>A	uc010idk.3	-	7	962	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	ACOX3_uc003glc.4_Missense_Mutation_p.L273F|ACOX3_uc003gld.4_Missense_Mutation_p.L273F	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	273					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.L273F(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CGGTTCAGAAGGCTCTGGCGA	0.602000														71			6		0	0	0.000157383	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995623	57995623	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:57995623G>A	uc010rkd.2	-	0	768	c.725C>T	c.(724-726)gCc>gTc	p.A242V		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R241R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGTGGAGAAGGCCCGGCGGCG	0.627000														20			18		0	0	0.000566183	0	0
KIRREL	55243	broad.mit.edu	37	1	158064487	158064487	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158064487C>T	uc001frn.4	+	14	2255	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	KIRREL_uc010pib.2_Silent_p.S517S|KIRREL_uc009wsq.3_Silent_p.S453S|KIRREL_uc001fro.4_Silent_p.S431S|hCG_1995134_uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	617						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCCCGTCTTCCAGGGCAGTGC	0.637000														37			16		0	0	0.000308642	0	0
HCAR1	27198	broad.mit.edu	37	12	123214229	123214230	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:123214229_123214230GG>AA	uc001ucz.3	-	0	900_901	c.657_658CC>TT	c.(655-660)acccgg>acTTgg	p.R220W	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	220					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ATGATGAACCGGGTCGCCTTCT	0.554000														60			17		0	0	6.4e-05	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141130	143141130	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143141130C>T	uc011ktg.2	+	0	585	c.585C>T	c.(583-585)ttC>ttT	p.F195F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	195					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.L194F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTATCTCTTCCCTCTAAAAA	0.423000														96			22		0	0	0.00047179	0	0
FXYD5	53827	broad.mit.edu	37	19	35657203	35657203	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:35657203C>T	uc010xsq.2	+	7	550	c.462C>T	c.(460-462)ttC>ttT	p.F154F	FXYD5_uc002nyg.2_Silent_p.F154F|FXYD5_uc021usk.1_Silent_p.F154F|FXYD5_uc002nyh.2_Silent_p.F154F|FXYD5_uc021usl.1_Silent_p.F154F|FXYD5_uc002nyi.2_Silent_p.F91F|FXYD5_uc002nyj.1_5'Flank	NM_144779	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 1, mRNA.	154					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGTGCTGTTCATCACAGGCA	0.552000														62			43		0	0	0.000781405	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077105	144077105	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:144077105C>T	uc003wel.3	+	14	4868	c.4750C>T	c.(4750-4752)Cga>Tga	p.R1584*	ARHGEF5_uc003wem.3_Nonsense_Mutation_p.R385*	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1584					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.R1584L(1)		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)					GGAAGCTCATCGAGTCAAGAC	0.547000														106			15		0	0	0.000566183	0	0
DUSP27	92235	broad.mit.edu	37	1	167097732	167097732	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167097732A>T	uc001geb.1	+	4	3380	c.3364A>T	c.(3364-3366)Aga>Tga	p.R1122*		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1122					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTATCGGAGAAGCACTGA	0.517000														21			13		0	0	0.00185496	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495666	6495667	+	Nonsense_Mutation	DNP	GG	AC	AC			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6495666_6495667GG>AC	uc002mfg.1	-	3	950_951	c.843_844CC>GT	c.(841-846)taccgg>taGTgg	p.281_282YR>*W	TUBB4A_uc002mff.1_Nonsense_Mutation_p.209_210YR>*W|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	281					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GTCAGGGCCCGGTACTGCTGGC	0.678000														85			21		0	0	6.4e-05	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213017	26213017	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:26213017C>T	uc022buc.1	+	0	1054	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	MAGEB6_uc004dbr.3_Missense_Mutation_p.P352S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	352	MAGE.							p.P352L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CAACAGTGATCCTCCATGCTA	0.512000														14			12		0	0	0.00136819	0	0
MRPL19	9801	broad.mit.edu	37	2	75882273	75882273	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:75882273T>C	uc002snl.3	+	5	766	c.741T>C	c.(739-741)ctT>ctC	p.L247L		NM_014763	NP_055578	P49406	RM19_HUMAN	Homo sapiens mitochondrial ribosomal protein L19 (MRPL19), nuclear gene encoding mitochondrial protein, mRNA.	247					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						GATTTGATCTTTGTTTAACTG	0.348000														29			13		0	0	0.000422831	0	0
OR1J4	26219	broad.mit.edu	37	9	125281530	125281530	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125281530C>T	uc011lyw.2	+	0	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TGTACCTGATCACGGTGCTGG	0.562000														87			19		0	0	0.000958276	0	0
STAG3	10734	broad.mit.edu	37	7	99800132	99800133	+	Silent	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:99800132_99800133CC>TT	uc003utx.1	+	24	2774_2775	c.2619_2620CC>TT	c.(2617-2622)ctccta>ctTTta	p.873_874LL>LL	STAG3_uc011kjk.1_Silent_p.815_816LL>LL|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_Silent_p.97_98LL>LL	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	873					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)					GGCGCCGCCTCCTAGCCGGGTT	0.525000														139			66		0	0	6.4e-05	0	0
TM4SF5	9032	broad.mit.edu	37	17	4675331	4675331	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4675331C>T	uc002fyw.1	+	0	145	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_003963	NP_003954	O14894	T4S5_HUMAN	Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA.	38						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						CCTCCTGGACCAACACCAACC	0.622000														63			39		0	0	0.00148497	0	0
IGIP	492311	broad.mit.edu	37	5	139508114	139508114	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:139508114C>T	uc003lfb.1	+	0	2594	c.53C>T	c.(52-54)aCc>aTc	p.T18I		NM_001007189	NP_001007190	A6NJ69	IGIP_HUMAN	Homo sapiens IgA-inducing protein homolog (Bos taurus) (IGIP), mRNA.	18						extracellular region											TGTAATATTACCATATTTGCT	0.383000														57			7		0	0	0.00198382	0	0
PELP1	27043	broad.mit.edu	37	17	4576113	4576113	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4576113G>A	uc002fyi.4	-	15	2399	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S	PELP1_uc010vsf.2_Missense_Mutation_p.P578S	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	725	Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCAGGGCCAGGAAGAAGCCGG	0.632000														19			9		0	0	0.000274275	0	0
CRHBP	1393	broad.mit.edu	37	5	76251529	76251529	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:76251529C>T	uc003ker.3	+	3	665	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	CRHBP_uc010izx.3_Missense_Mutation_p.H129Y	NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	129					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTCCCAGGATCATCCTCTCCC	0.463000														345			70		0	0	0.000781405	0	0
CAPN6	827	broad.mit.edu	37	X	110489950	110489950	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:110489950C>T	uc004epc.2	-	12	1972	c.1781G>A	c.(1780-1782)gGg>gAg	p.G594E	CAPN6_uc011msu.2_Missense_Mutation_p.G339E	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	594	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGTAACCTGCCCCAAGAACTG	0.527000														12			10		0	0	0.000673444	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939636	12939637	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12939636_12939637CC>TT	uc001aun.2	-	3	1236_1237	c.1165_1166GG>AA	c.(1165-1167)gga>AAa	p.G389K		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	389										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGGATTTCCACAGAAGCTG	0.525000														279			62		0	0	6.4e-05	0	0
MKRN3	7681	broad.mit.edu	37	15	23811677	23811677	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:23811677G>A	uc001ywh.4	+	0	1224	c.748G>A	c.(748-750)Gga>Aga	p.G250R	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.G250R	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	250						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCTTCCAGGGGAGTTTGCTT	0.567000														38			10		0	0	0.000978159	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618082	111618082	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:111618082G>A	uc004bdi.3	-	0	194	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	43						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCACCTTCCTGGGCTTCATCT	0.647000														78			63		0	0	0.000781405	0	0
ANO3	63982	broad.mit.edu	37	11	26646015	26646015	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:26646015G>A	uc001mqt.4	+	17	1988	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	ANO3_uc010rdr.2_Missense_Mutation_p.E599K|ANO3_uc010rds.2_Missense_Mutation_p.E454K|ANO3_uc010rdt.2_Missense_Mutation_p.E469K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	615						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAGGCTTATGAAAAAATTGC	0.318000														75			22		0	0	0.000878237	0	0
ABCA13	154664	broad.mit.edu	37	7	48316016	48316016	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:48316016G>A	uc003toq.2	+	16	6777	c.6753G>A	c.(6751-6753)agG>agA	p.R2251R	ABCA13_uc010kyr.2_Silent_p.R1754R|ABCA13_uc022acp.1_Silent_p.R750R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2251					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACTAGTAGGAAAACAGTTC	0.338000														23			6		0	0	0.00116845	0	0
MYO18B	84700	broad.mit.edu	37	22	26422879	26422879	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:26422879C>T	uc003abz.1	+	42	7189	c.6939C>T	c.(6937-6939)atC>atT	p.I2313I	MYO18B_uc003aca.1_Silent_p.I2194I|MYO18B_uc010guy.1_Silent_p.I2195I|MYO18B_uc010guz.1_Silent_p.I2193I|MYO18B_uc011aka.1_Silent_p.I1467I|MYO18B_uc011akb.1_Silent_p.I1826I|MYO18B_uc010gva.1_Silent_p.I296I|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2313						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin 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						CCCTGGAAATCGAAGGGGCCG	0.592000														16			8		0	0	0.000274275	0	0
BROX	148362	broad.mit.edu	37	1	222904715	222904715	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:222904715C>T	uc001hnq.1	+	11	1401	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	BROX_uc010put.1_Missense_Mutation_p.P304S|BROX_uc010puu.1_Intron|BROX_uc010puv.1_Missense_Mutation_p.P304S|AK094916_uc001hnr.1_Intron|AK025140_uc001hns.1_5'Flank	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA.	336	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCAAAAAATTCCAACAGAAGC	0.373000														229			20		0	0	0.000375601	0	0
TTL	150465	broad.mit.edu	37	2	113243522	113243522	+	Silent	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113243522G>T	uc002thu.3	+	1	365	c.186G>T	c.(184-186)gtG>gtT	p.V62V		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	Homo sapiens tubulin tyrosine ligase (TTL), mRNA.	62	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TACAGTTGGTGAATTACTACA	0.483000			T	ETV6	ALL									138			24		1.77063e-15	8.45498e-15	0.000878237	1	0
PRELID2	153768	broad.mit.edu	37	5	145197560	145197560	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:145197560G>A	uc003lnp.1	-	4	386	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	PRELID2_uc003lno.1_Missense_Mutation_p.R60W|PRELID2_uc003lnq.1_Missense_Mutation_p.R89W|PRELID2_uc003lnr.1_Missense_Mutation_p.R89W	NM_182960	NP_892005	Q8N945	PRLD2_HUMAN	Homo sapiens PRELI domain containing 2 (PRELID2), transcript variant 1, mRNA.	101	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCTTTCCCGAGGATTGAGC	0.433000														26			5		0	0	0.00198382	0	0
HELLS	3070	broad.mit.edu	37	10	96352063	96352063	+	Silent	SNP	T	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96352063T>G	uc009xuo.3	+	16	2088	c.1983T>G	c.(1981-1983)ggT>ggG	p.G661G	HELLS_uc001kjs.3_Silent_p.G599G|HELLS_uc001kjt.3_Silent_p.G615G|HELLS_uc009xul.3_Silent_p.G517G|HELLS_uc009xum.3_Silent_p.G485G|HELLS_uc009xun.3_Silent_p.G491G|HELLS_uc001kju.3_Silent_p.G254G|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Silent_p.G477G|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	615	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAAAAAGAGGTCACAAGGTGG	0.323000														55			10		0	0	0.000978159	0	0
FAT4	79633	broad.mit.edu	37	4	126412334	126412334	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:126412334G>A	uc003ifj.4	+	16	14357	c.14357G>A	c.(14356-14358)gGa>gAa	p.G4786E	FAT4_uc011cgp.2_Missense_Mutation_p.G3027E|FAT4_uc003ifi.1_Missense_Mutation_p.G2263E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4786					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTCCAGTCGGACTTTCTATT	0.532000														45			7		0	0	0.00198382	0	0
KRT39	390792	broad.mit.edu	37	17	39114917	39114917	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:39114917C>T	uc002hvo.1	-	6	1448	c.1412G>A	c.(1411-1413)gGg>gAg	p.G471E	KRT39_uc010wfm.1_Missense_Mutation_p.G204E	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	471	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AATGACCTTCCCATCCTTAAT	0.478000														52			27		0	0	0.000720815	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26666622	26666622	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:26666622G>A	uc002hax.2	+	1	94	c.75G>A	c.(73-75)ttG>ttA	p.L25L	TNFAIP1_uc002hay.3_Silent_p.L25L|TNFAIP1_uc010waf.2_Intron	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	25					DNA replication|apoptosis|cell migration|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAGGAGGGTTGGGCAACAAGT	0.622000														48			20		0	0	0.00152264	0	0
TACC2	10579	broad.mit.edu	37	10	123846454	123846454	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:123846454G>A	uc001lfv.3	+	3	4799	c.4439G>A	c.(4438-4440)gGa>gAa	p.G1480E	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G1480E|TACC2_uc010qtv.2_Missense_Mutation_p.G1480E	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1480						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGTTGGCTGGAGAGGCTGAG	0.592000														37			5		0	0	0.000602214	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760610	92760610	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:92760610C>T	uc003umh.1	-	4	5891	c.4675G>A	c.(4675-4677)Ggt>Agt	p.G1559S	SAMD9L_uc003umj.1_Missense_Mutation_p.G1559S|SAMD9L_uc003umi.1_Missense_Mutation_p.G1559S|SAMD9L_uc010lfb.1_Missense_Mutation_p.G1559S|SAMD9L_uc003umk.1_Missense_Mutation_p.G1559S|SAMD9L_uc010lfc.1_Missense_Mutation_p.G1559S|SAMD9L_uc010lfd.1_Missense_Mutation_p.G1559S|SAMD9L_uc022ahh.1_Missense_Mutation_p.G1559S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1559										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCCTACCACTTCTGAGT	0.373000														22			7		0	0	0.00198382	0	0
CHGB	1114	broad.mit.edu	37	20	5904063	5904063	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:5904063G>A	uc002wmg.3	+	3	1579	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	CHGB_uc010zqz.2_Missense_Mutation_p.E108K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	425						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGGGGAGGGGAGCCACGTGC	0.527000														57			23		0	0	0.000586117	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406373	105406373	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:105406373C>T	uc010axc.1	-	6	15535	c.15415G>A	c.(15415-15417)Ggg>Agg	p.G5139R	AHNAK2_uc021sen.1_Missense_Mutation_p.G536R|AHNAK2_uc021seo.1_Missense_Mutation_p.G137R|AHNAK2_uc001ypx.2_Missense_Mutation_p.G5039R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5139			G -> E (in dbSNP:rs61421370).			nucleus		p.G109R(1)|p.G5139R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACATCCCCGAGCCCACAT	0.582000														56			14		0	0	0.00185496	0	0
TPO	7173	broad.mit.edu	37	2	1500403	1500403	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:1500403G>A	uc002qwr.3	+	12	2338	c.2252G>A	c.(2251-2253)gGg>gAg	p.G751E	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G751E|TPO_uc002qwx.3_Missense_Mutation_p.G694E|TPO_uc002qwu.3_Missense_Mutation_p.G694E|TPO_uc010yio.2_Missense_Mutation_p.G578E|TPO_uc010yip.2_Missense_Mutation_p.G751E|TPO_uc002qwy.1_Missense_Mutation_p.G91E|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	751	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTGGAGAATGGGGACTTTGTG	0.547000														168			53		0	0	0.000781405	0	0
PRAM1	84106	broad.mit.edu	37	19	8564413	8564413	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8564413C>T	uc002mkd.3	-	1	342	c.279G>A	c.(277-279)aaG>aaA	p.K93K		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	141	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCGGGGGCTTCTTGGGGAGGT	0.657000														261			21		0	0	0.00178596	0	0
ZNF337	26152	broad.mit.edu	37	20	25656527	25656528	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:25656527_25656528CC>TT	uc002wva.3	-	3	1918_1919	c.1396_1397GG>AA	c.(1396-1398)gga>AAa	p.G466K	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.G434K|ZNF337_uc002wvc.3_Missense_Mutation_p.G466K	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAGCCTCGTCCACAGTCCTTG	0.470000														91			20		0	0	6.4e-05	0	0
CARD8	22900	broad.mit.edu	37	19	48735002	48735002	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:48735002C>T	uc010xzj.2	-	4	500	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	CARD8_uc002pii.4_Missense_Mutation_p.E153K|CARD8_uc010xzi.1_Missense_Mutation_p.E48K|CARD8_uc010els.3_Missense_Mutation_p.E86K|CARD8_uc010xzk.2_Missense_Mutation_p.E72K|CARD8_uc002pie.4_Missense_Mutation_p.E48K|CARD8_uc002pif.4_Missense_Mutation_p.E48K|CARD8_uc021uwq.1_Missense_Mutation_p.E48K|CARD8_uc021uwr.1_Missense_Mutation_p.E48K|CARD8_uc002pig.4_5'UTR|CARD8_uc002pih.4_Missense_Mutation_p.E103K|CARD8_uc010xzl.2_Missense_Mutation_p.E103K|CARD8_uc010xzm.2_Missense_Mutation_p.E153K	NM_001184900	NP_001171829	Q9Y2G2	CARD8_HUMAN	Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA.	48					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	NACHT domain binding|caspase activator activity|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TAATCTTCTTCGATCTCAAAA	0.358000														50			39		0	0	0.00148497	0	0
MUC15	143662	broad.mit.edu	37	11	26587086	26587086	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:26587086G>A	uc001mqw.3	-	2	674	c.401C>T	c.(400-402)tCc>tTc	p.S134F	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.S107F|MUC15_uc001mqy.3_Missense_Mutation_p.S134F	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	107						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGGGCTTGTGGAAATGGTAGA	0.448000														24			9		0	0	0.000274275	0	0
GLT25D1	79709	broad.mit.edu	37	19	17690299	17690300	+	Missense_Mutation	DNP	CC	TT	TT	rs150637824	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17690299_17690300CC>TT	uc002nhc.1	+	9	1287_1288	c.1275_1276CC>TT	c.(1273-1278)gaccgg>gaTTgg	p.R426W	GLT25D1_uc010eax.1_Missense_Mutation_p.R154W	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	426					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						AGGTGGTGGACCGGGGGCTGCA	0.564000														101			42		0	0	6.4e-05	0	0
AK302694	0	broad.mit.edu	37	10	30993566	30993566	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:30993566C>T	uc010qdx.1	+	6	1262	c.720C>T	c.(718-720)ttC>ttT	p.F240F						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		TCGGGCAGTTCCACGAGGGGG	0.537000														33			23		0	0	0.00127121	0	0
PRSS48	345062	broad.mit.edu	37	4	152200991	152200991	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:152200991G>A	uc011cif.2	+	1	96	c.96G>A	c.(94-96)caG>caA	p.Q32Q	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	32	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TAGGTGGCCAGGATGCTGCTG	0.532000														45			7		0	0	0.00198382	0	0
ACSM4	341392	broad.mit.edu	37	12	7457123	7457123	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:7457123G>A	uc001qsx.1	+	0	196	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	66					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GTCCCAAAAGGAGAAGGTATA	0.453000														23			12		0	0	0.00136819	0	0
GRAP2	9402	broad.mit.edu	37	22	40351845	40351845	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:40351845G>A	uc003ayh.2	+	2	364	c.101G>A	c.(100-102)tGg>tAg	p.W34*	GRAP2_uc011aom.2_Intron|GRAP2_uc011aon.2_Intron|GRAP2_uc010gya.2_Nonsense_Mutation_p.W34*|GRAP2_uc011aoo.2_Intron|GRAP2_uc011aop.2_Nonsense_Mutation_p.W34*|GRAP2_uc011aoq.2_Intron|GRAP2_uc003ayj.2_Nonsense_Mutation_p.W34*	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	34	SH3 1.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAAGAGGAGTGGTTTAAGGCG	0.463000														35			9		0	0	0.00185496	0	0
CR1L	1379	broad.mit.edu	37	1	207890927	207890927	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207890927G>A	uc001hga.4	+	10	1654	c.1533G>A	c.(1531-1533)ggG>ggA	p.G511G	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	511	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGACAGAGGGATGACCTTCA	0.537000														70			23		0	0	0.00229938	0	0
STRADB	55437	broad.mit.edu	37	2	202340374	202340374	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:202340374C>T	uc002uyd.4	+	6	822	c.457C>T	c.(457-459)Cct>Tct	p.P153S	STRADB_uc021vvb.1_Missense_Mutation_p.P153S	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA.	153	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GACCTATTTTCCTGAAGGAAT	0.378000														154			68		0	0	0.000781405	0	0
PLOD2	5352	broad.mit.edu	37	3	145799564	145799564	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:145799564C>T	uc003evr.1	-	11	1825	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	PLOD2_uc003evq.1_Missense_Mutation_p.R100Q|PLOD2_uc011bnm.1_Missense_Mutation_p.R385Q|PLOD2_uc003evs.1_Missense_Mutation_p.R440Q	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	440					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ATCTTCAGATCGTGCATAGTA	0.368000														37			17		0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9076429	9076429	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9076429G>A	uc002mkp.3	-	2	11221	c.11017C>T	c.(11017-11019)Ccc>Tcc	p.P3673S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3674	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGAGATGGGAGTAGATGCA	0.458000														36			15		0	0	0.000566183	0	0
CTNND2	1501	broad.mit.edu	37	5	11082926	11082926	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:11082926T>A	uc003jfa.1	-	15	2815	c.2670A>T	c.(2668-2670)aaA>aaT	p.K890N	CTNND2_uc010itt.2_Missense_Mutation_p.K799N|CTNND2_uc011cmy.1_Missense_Mutation_p.K553N|CTNND2_uc011cmz.1_Missense_Mutation_p.K457N|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.K482N	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	890					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.R889*(1)		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						GGCCTTTCTCTTTTCGGACAG	0.542000														35			14		0	0	0.000308642	0	0
ZNF676	163223	broad.mit.edu	37	19	22363477	22363477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22363477G>A	uc002nqs.1	-	2	1360	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTGAGGATCGATTAAAAGCT	0.413000														54			11		0	0	0.000978159	0	0
RHPN1	114822	broad.mit.edu	37	8	144463781	144463781	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:144463781C>T	uc003yyb.3	+	12	1661	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	535					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCGGTGGCGGCTGGTGGGGCC	0.682000														45			15		0	0	0.000566183	0	0
TC2N	123036	broad.mit.edu	37	14	92251687	92251687	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:92251687C>T	uc001xzu.4	-	10	1372	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	TC2N_uc001xzt.4_Missense_Mutation_p.G394E|TC2N_uc010auc.3_Missense_Mutation_p.G330E|TC2N_uc001xzv.4_Missense_Mutation_p.G394E	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	394	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GCTAAACATTCCCACCTTCAC	0.338000														136			38		0	0	0.000953801	0	0
LAMA5	3911	broad.mit.edu	37	20	60902685	60902686	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:60902685_60902686CC>TA	uc002ycq.3	-	36	4904_4905	c.4837_4838GG>TA	c.(4837-4839)ggg>TAg	p.G1613*	LAMA5_uc021wfw.1_Nonsense_Mutation_p.G1613*	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1613	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGAAGGTCCCAAGGCTGCAC	0.639000														49			5		0	0	6.4e-05	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981653	92981653	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:92981653G>A	uc002bra.3	+	3	516	c.361G>A	c.(361-363)Gat>Aat	p.D121N	ST8SIA2_uc002brb.3_Missense_Mutation_p.D100N	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	121					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.G120A(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GAAGCCTGGAGATATTATTCA	0.443000														145			32		0	0	0.000692331	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881174	142881174	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142881174G>A	uc011ksw.2	+	0	663	c.663G>A	c.(661-663)ctG>ctA	p.L221L		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	221					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L221L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TGACTCCTCTGATCATGTTCA	0.502000														60			13		0	0	0.00185496	0	0
C8orf47	203111	broad.mit.edu	37	8	99102183	99102183	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:99102183G>A	uc003yih.1	+	1	1086	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	313	Glu-rich.							p.R313Q(4)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CATCCAGCACGAAATGTAGAG	0.438000														45			19		0	0	0.00188189	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214391	67214392	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:67214391_67214392CC>TT	uc002ert.3	-	1	957_958	c.122_123GG>AA	c.(121-123)tgg>tAA	p.W41*	KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Nonsense_Mutation_p.W41*|EXOC3L1_uc002erv.1_Non-coding_Transcript	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	41	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGACTGAGACCAGGGGTACAG	0.678000														36			20		0	0	6.4e-05	0	0
ZNF35	7584	broad.mit.edu	37	3	44692679	44692679	+	Silent	SNP	C	T	T	rs143301932	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:44692679C>T	uc003cnq.3	+	1	341	c.120C>T	c.(118-120)tcC>tcT	p.S40S	ZNF35_uc003cnr.3_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	40	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAGTGCACTCCGAGAACATCA	0.552000														53			13		0	0	0.000219431	0	0
COL16A1	1307	broad.mit.edu	37	1	32120952	32120952	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:32120952G>A	uc001btk.1	-	66	4618	c.4253C>T	c.(4252-4254)tCg>tTg	p.S1418L	COL16A1_uc001btj.1_Missense_Mutation_p.S1216L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1418	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)		AGGGCTCCCCGAAGGCCCCGG	0.682000														39			10		0	0	0.000673444	0	0
RP1L1	94137	broad.mit.edu	37	8	10470209	10470209	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:10470209G>A	uc003wtc.3	-	3	1628	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	467					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGGACTCTGGCTCCGAGCCC	0.716000														68			33		0	0	0.00148497	0	0
GALNT13	114805	broad.mit.edu	37	2	154996859	154996859	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:154996859C>T	uc002tyt.4	+	1	256	c.152C>T	c.(151-153)tCa>tTa	p.S51L	GALNT13_uc002tyr.4_Missense_Mutation_p.S51L|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	51						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCTGTTATTTCAAGAAACCAA	0.353000														18			8		0	0	0.000274275	0	0
FSHR	2492	broad.mit.edu	37	2	49190896	49190896	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:49190896G>A	uc002rww.3	-	9	1174	c.1064C>T	c.(1063-1065)cCa>cTa	p.P355L	FSHR_uc010fbn.3_Missense_Mutation_p.P329L|FSHR_uc002rwx.3_Missense_Mutation_p.P293L	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	355					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATCTTCACATGGGTTGAATGC	0.453000									Gonadal Dysgenesis, 46 XX					47			17		0	0	0.000422831	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110457005	110457005	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:110457005C>T	uc001tpx.3	+	5	865	c.606C>T	c.(604-606)ttC>ttT	p.F202F	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc009zvm.2_Silent_p.F202F|ANKRD13A_uc010sxw.2_Silent_p.F202F	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	202										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCGAACGCTTCGACCTTTCCC	0.488000														59			43		0	0	0.000680045	0	0
MIR548I2	100302277	broad.mit.edu	37	4	9557802	9557802	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:9557802G>A	uc021xlt.1	-	0		c.136C>T								Homo sapiens microRNA 548i-2 (MIR548I2), microRNA.																		GATGGATCAGGGACGAACTTT	0.378000														129			17		0	0	0.000566183	0	0
C10orf120	399814	broad.mit.edu	37	10	124457679	124457679	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124457679G>A	uc001lgn.3	-	2	610	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	193										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AGACAGAAATGAGGAGCGTGT	0.483000														67			18		0	0	0.000566183	0	0
EMR2	30817	broad.mit.edu	37	19	14875257	14875257	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14875257G>A	uc002mzp.1	-	10	1528	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Missense_Mutation_p.P358S|EMR2_uc002mzo.1_Missense_Mutation_p.P358S|EMR2_uc002mzq.1_Missense_Mutation_p.P309S|EMR2_uc002mzr.1_Missense_Mutation_p.P309S|EMR2_uc002mzs.1_Missense_Mutation_p.P216S|EMR2_uc002mzt.1_Missense_Mutation_p.P265S|EMR2_uc002mzu.1_Missense_Mutation_p.P265S|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	358					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGCCTGCAGGATAACTGAAG	0.562000														50			11		0	0	0.000308642	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874990	80874990	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:80874990C>T	uc010ysh.2	+	17	2860	c.2855C>T	c.(2854-2856)tCc>tTc	p.S952F	CTNNA2_uc010yse.2_Missense_Mutation_p.S904F|CTNNA2_uc010ysf.2_Missense_Mutation_p.S904F|CTNNA2_uc010ysg.2_Missense_Mutation_p.S859F|CTNNA2_uc010ysi.2_Missense_Mutation_p.S536F|CTNNA2_uc010ysj.2_Missense_Mutation_p.S233F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	952					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAATGGATTCCTTCTAGGAC	0.373000														48			19		0	0	0.00074312	0	0
CCDC146	57639	broad.mit.edu	37	7	76903933	76903933	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:76903933A>T	uc003uga.3	+	10	1531	c.1404A>T	c.(1402-1404)gaA>gaT	p.E468D	CCDC146_uc010ldp.3_Missense_Mutation_p.E182D	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	468										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAATTGATGAAAAGGAACAAA	0.358000														26			11		0	0	0.000308642	0	0
ARMC3	219681	broad.mit.edu	37	10	23319702	23319702	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:23319702G>A	uc001irm.4	+	16	2306	c.2223G>A	c.(2221-2223)aaG>aaA	p.K741K	ARMC3_uc010qcv.2_Silent_p.K734K|ARMC3_uc010qcw.2_Silent_p.K478K	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	741							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAATATTAAGGAACAGATTG	0.343000														31			5		0	0	0.000602214	0	0
KIF1B	23095	broad.mit.edu	37	1	10316337	10316337	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:10316337C>T	uc001aqx.4	+	2	341	c.139C>T	c.(139-141)Cca>Tca	p.P47S	KIF1B_uc001aqv.4_Missense_Mutation_p.P47S|KIF1B_uc001aqw.4_Missense_Mutation_p.P47S|KIF1B_uc001aqy.3_Missense_Mutation_p.P47S|KIF1B_uc001aqz.3_Missense_Mutation_p.P47S|KIF1B_uc001ara.3_Missense_Mutation_p.P47S|KIF1B_uc001arb.3_Missense_Mutation_p.P47S|KIF1B_uc009vmt.3_Non-coding_Transcript	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	47	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAAGGAAGCTCCAAAGTCCTT	0.398000														79			31		0	0	0.000692331	0	0
GORASP2	26003	broad.mit.edu	37	2	171822316	171822318	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:171822316_171822318TC>CT	uc002ugk.3	+	9	1850_1852	c.1035_1037TC>CT	c.(1033-1038)ccttcc>ccCTc	p.S346del	GORASP2_uc002ugj.3_Missense_Mutation_p.S278del|GORASP2_uc010zdl.2_Missense_Mutation_p.S358del|GORASP2_uc010zdm.2_Missense_Mutation_p.S302del|GORASP2_uc002ugl.3_Missense_Mutation_p.S278del|GORASP2_uc002ugm.3_Missense_Mutation_p.S128del	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	346	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CACCTCTTCCTTCCATGCCTCCC	0.517000														52			11		0	0	6.4e-05	0	0
FOSL2	2355	broad.mit.edu	37	2	28634933	28634933	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:28634933C>T	uc002rma.3	+	3	1408	c.599C>T	c.(598-600)tCg>tTg	p.S200L	FOSL2_uc021vfg.1_Missense_Mutation_p.S192L|FOSL2_uc010ymi.2_Missense_Mutation_p.S161L	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	200					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GAGCGCCGATCGCCCCCAGCC	0.642000														61			24		0	0	0.00106085	0	0
KCNS1	3787	broad.mit.edu	37	20	43723895	43723895	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:43723895C>T	uc002xnc.3	-	4	1594	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	KCNS1_uc002xnd.3_Silent_p.K399K	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA.	399						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CGTCCTCCTCCTTTTCAGCTG	0.582000														34			12		0	0	0.00185496	0	0
PAK7	57144	broad.mit.edu	37	20	9538306	9538306	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:9538306C>T	uc002wnl.2	-	7	2237	c.1692G>A	c.(1690-1692)gtG>gtA	p.V564V	PAK7_uc002wnk.2_Silent_p.V564V|PAK7_uc002wnj.2_Silent_p.V564V|PAK7_uc010gby.1_Silent_p.V564V	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	564	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCTGTGAATCACTCCTTGGT	0.443000														39			6		0	0	0.00198382	0	0
CRYBB2	1415	broad.mit.edu	37	22	25627647	25627647	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:25627647G>A	uc003abp.1	+	5	574	c.526G>A	c.(526-528)Gac>Aac	p.D176N		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	176	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GGACAGCAGCGACTTTGGGGC	0.647000														83			27		0	0	0.00106085	0	0
ZNF208	7757	broad.mit.edu	37	19	22155201	22155201	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22155201G>A	uc021urr.1	-	3	2784	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTATGATAACTAAGG	0.363000														27			9		0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179596173	179596173	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179596173C>T	uc021vsy.1	-	55	13813	c.13588G>A	c.(13588-13590)Gat>Aat	p.D4530N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1191N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5457	Ig-like 25.						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)			CTTATATTATCGTCTTCAGTG	0.478000														47			22		0	0	0.00152264	0	0
FAT2	2196	broad.mit.edu	37	5	150906861	150906861	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:150906861G>A	uc003lue.4	-	15	10255	c.10242C>T	c.(10240-10242)atC>atT	p.I3414I	FAT2_uc003lud.4_Silent_p.I107I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3414	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCACTTGGATAGCGATGT	0.532000														89			16		0	0	0.000566183	0	0
NFRKB	4798	broad.mit.edu	37	11	129752435	129752435	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:129752435C>T	uc001qfg.3	-	7	1189	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	NFRKB_uc001qfi.3_Silent_p.E331E|NFRKB_uc001qfh.3_Silent_p.E354E|NFRKB_uc010sbw.1_Silent_p.E343E	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	331					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CGGCCAGGTCCTCTGCCTCTG	0.468000														56			40		0	0	0.000953801	0	0
TNRC6B	23112	broad.mit.edu	37	22	40717151	40717151	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:40717151C>T	uc011aor.2	+	21	5243	c.5032C>T	c.(5032-5034)Cat>Tat	p.H1678Y	TNRC6B_uc003aym.3_Missense_Mutation_p.H874Y|TNRC6B_uc003ayn.4_Missense_Mutation_p.H1568Y|TNRC6B_uc003ayo.3_Missense_Mutation_p.H1425Y	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1678	RRM.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GCTGACATTCCATCTGAATCT	0.517000														43			14		0	0	0.00185496	0	0
ZNF236	7776	broad.mit.edu	37	18	74587487	74587487	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:74587487T>C	uc002lmi.3	+	5	899	c.701T>C	c.(700-702)tTt>tCt	p.F234S	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.F234S	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	234					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGAAAGGCTTTTAACCAGAAG	0.458000											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			15		0	0	0.000566183	0	0
RPTN	126638	broad.mit.edu	37	1	152128866	152128866	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152128866C>T	uc001ezs.1	-	2	774	c.709G>A	c.(709-711)Gat>Aat	p.D237N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	237	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TAATGAGAATCCTGAATTGGT	0.413000														101			18		0	0	0.00074312	0	0
SLC35F4	341880	broad.mit.edu	37	14	58030893	58030893	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:58030893C>T	uc021rtp.1	-	7	1464	c.1415G>A	c.(1414-1416)aGa>aAa	p.R472K	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Missense_Mutation_p.R350K	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTCTGCCTCTGCCCCGCAG	0.453000														18			4		0	0	0.000602214	0	0
SYNE1	23345	broad.mit.edu	37	6	152631852	152631852	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:152631852G>A	uc021zhb.1	-	85	17090	c.16867C>T	c.(16867-16869)Cgt>Tgt	p.R5623C	SYNE1_uc003qos.4_Missense_Mutation_p.R147C|SYNE1_uc003qot.4_Missense_Mutation_p.R5552C|SYNE1_uc003qou.4_Missense_Mutation_p.R5623C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5623					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.R5623C(3)|p.R5552C(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGCAAACGAATTTTGATC	0.393000										HNSCC(10;0.0054)				27			17		0	0	0.00229938	0	0
NAA15	80155	broad.mit.edu	37	4	140306070	140306070	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:140306070C>T	uc003ihu.1	+	17	2496	c.2240C>T	c.(2239-2241)cCa>cTa	p.P747L		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	747					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCAACGAATCCAAAGAATTTT	0.294000														66			5		0	0	0.00116845	0	0
HRG	3273	broad.mit.edu	37	3	186394960	186394960	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:186394960C>T	uc003fqq.3	+	6	889	c.866C>T	c.(865-867)cCc>cTc	p.P289L		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	289	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CATCATCATCCCCACAAGCCA	0.557000														58			7		0	0	0.000274275	0	0
PHYH	5264	broad.mit.edu	37	10	13333889	13333889	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:13333889G>A	uc001imf.3	-	4	526	c.438C>T	c.(436-438)ttC>ttT	p.F146F	PHYH_uc001ime.3_Silent_p.F46F	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	146					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TAGGTCCAGTGAAGCACTCCA	0.333000														100			15		0	0	0.000422831	0	0
DSC2	1824	broad.mit.edu	37	18	28671000	28671000	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28671000G>A	uc002kwl.4	-	3	919	c.465C>T	c.(463-465)ttC>ttT	p.F155F	DSC2_uc002kwk.4_Silent_p.F155F	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	155	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCTGTTGAAGGAAAAGTGGAA	0.398000														27			6		0	0	0.00198382	0	0
abParts	0	broad.mit.edu	37	14	106692152	106692152	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106692152C>T	uc021ser.1	-	1154		c.24934G>A								Parts of antibodies, mostly variable regions.																		CAGTGCTGATCACCAAGTGGA	0.502000														60			9		0	0	0.000442599	0	0
NTN5	126147	broad.mit.edu	37	19	49173966	49173966	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:49173966G>A	uc002pkb.3	-	1	374	c.278C>T	c.(277-279)tCt>tTt	p.S93F	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Missense_Mutation_p.S93F	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	93						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCAGGCAGCAGACAGGATGAG	0.662000														16			4		0	0	0.00024832	0	0
EPAS1	2034	broad.mit.edu	37	2	46603707	46603707	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:46603707C>T	uc002ruv.3	+	8	1574	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	355					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGGTGTTCTCCATGGACCAG	0.483000														168			18		0	0	0.00121646	0	0
DNAH9	1770	broad.mit.edu	37	17	11597700	11597700	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:11597700G>A	uc002gne.3	+	21	4876	c.4808G>A	c.(4807-4809)cGg>cAg	p.R1603Q	DNAH9_uc010coo.3_Missense_Mutation_p.R897Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1603	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCCTTCCCGCGGTTTTACTTT	0.517000														21			21		0	0	0.00047179	0	0
DMBT1	1755	broad.mit.edu	37	10	124345774	124345774	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124345774C>T	uc001lgk.1	+	15	1764	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L	DMBT1_uc001lgl.1_Missense_Mutation_p.S543L|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.S553L|DMBT1_uc021qag.1_Missense_Mutation_p.S543L|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.S553L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	553	SRCR 4.				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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G552V(1)		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)				GGTCAGGGCTCAGGACCCATT	0.592000														109			26		0	0	0.000720815	0	0
BBX	56987	broad.mit.edu	37	3	107491750	107491750	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:107491750G>A	uc010hpr.3	+	10	1509	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	BBX_uc003dwk.4_Silent_p.K394K|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Silent_p.K415K|BBX_uc003dwm.4_Silent_p.K394K|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAATTAGAAAGGAAGAGTTAG	0.318000														53			5		0	0	0.00116845	0	0
AIPL1	23746	broad.mit.edu	37	17	6330342	6330342	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:6330342C>T	uc002gcp.3	-	3	596	c.501G>A	c.(499-501)tgG>tgA	p.W167*	AIPL1_uc021toq.1_Nonsense_Mutation_p.W128*|AIPL1_uc002gcq.3_Nonsense_Mutation_p.W107*|AIPL1_uc002gcr.3_Nonsense_Mutation_p.W104*|AIPL1_uc010clk.3_Nonsense_Mutation_p.W145*|AIPL1_uc010cll.3_Nonsense_Mutation_p.W167*|AIPL1_uc021tor.1_Nonsense_Mutation_p.W159*|AIPL1_uc002gcs.3_Nonsense_Mutation_p.W167*	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	167					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TGCTCAGGTTCCAGGTCTCCC	0.622000														106			60		0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152554096	152554096	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152554096A>G	uc021vrb.1	-	11	1248	c.1219T>C	c.(1219-1221)Ttc>Ctc	p.F407L	NEB_uc002txu.3_Missense_Mutation_p.F407L|NEB_uc021vrc.1_Missense_Mutation_p.F407L|NEB_uc010fnx.3_Missense_Mutation_p.F407L|NEB_uc021vrd.1_Missense_Mutation_p.F407L|NEB_uc010fny.2_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	407					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGAGCTTGAATTTGGGGGTC	0.328000														119			39		0	0	0.000781405	0	0
GPR68	8111	broad.mit.edu	37	14	91700924	91700924	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:91700924C>T	uc021ryk.1	-	0	471	c.471G>A	c.(469-471)ctG>ctA	p.L157L	GPR68_uc001xzg.3_Silent_p.L157L|GPR68_uc001xzh.3_Silent_p.L157L	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	157					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTCGTGCATCAGGAAGTAGA	0.622000														29			11		0	0	0.000978159	0	0
PYGM	5837	broad.mit.edu	37	11	64521746	64521746	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:64521746C>T	uc001oax.4	-	8	1888	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	PYGM_uc001oay.4_Silent_p.L269L	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	357					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCATCCGTTCCAGGTCCACCA	0.647000														63			23		0	0	0.000586117	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868538	22868538	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:22868538C>T	uc002zwe.3	-	1	1670	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	abParts_uc021wml.1_Non-coding_Transcript|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.D473N	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GTTTGATGGTCCTTGGTTTTG	0.453000														121			50		0	0	0.000781405	0	0
FREM1	158326	broad.mit.edu	37	9	14842369	14842369	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:14842369G>A	uc003zlm.3	-	9	2499	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	561					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGGCTTTGTGATATTGAAGA	0.493000														64			45		0	0	0.000781405	0	0
RYR1	6261	broad.mit.edu	37	19	38987159	38987159	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:38987159G>A	uc002oit.3	+	40	6904	c.6774G>A	c.(6772-6774)ctG>ctA	p.L2258L	RYR1_uc002oiu.3_Silent_p.L2258L|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2258	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTACCTGCTGGAGAACAGTG	0.632000														58			39		0	0	0.000781405	0	0
DIO3	1735	broad.mit.edu	37	14	102028428	102028428	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:102028428G>A	uc021sdx.1	+	0	741	c.595G>A	c.(595-597)Gag>Aag	p.E199K	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	173					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CATCTACATCGAGGAAGCGCA	0.642000														84			15		0	0	0.000566183	0	0
CASR	846	broad.mit.edu	37	3	121975937	121975937	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121975937C>T	uc003eew.4	+	2	633	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CASR_uc003eev.4_Silent_p.F65F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	65					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGTATAATTTCCGTGGGTTTC	0.443000														53			10		0	0	0.00136819	0	0
TYRO3	7301	broad.mit.edu	37	15	41863851	41863851	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:41863851G>A	uc001zof.2	+	13	1955	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	573	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTTGCATGAAGGAGTTTGACC	0.463000														103			8		0	0	0.000442599	0	0
MUC17	140453	broad.mit.edu	37	7	100681473	100681473	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100681473C>T	uc003uxp.1	+	2	6829	c.6776C>T	c.(6775-6777)tCa>tTa	p.S2259L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2259	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCACTTCATCTCCTACA	0.507000														171			32		0	0	0.00111076	0	0
NF2	4771	broad.mit.edu	37	22	30090780	30090780	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:30090780G>T	uc003age.4	+	15	2220	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	NF2_uc003agf.4_3'UTR|NF2_uc003agb.4_3'UTR|NF2_uc003agc.4_3'UTR|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_3'UTR|NF2_uc003aga.4_3'UTR|NF2_uc003agh.4_3'UTR|NF2_uc003agi.4_3'UTR|NF2_uc003agj.4_Nonsense_Mutation_p.E163*|NF2_uc011akq.2_Missense_Mutation_p.L247F	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	593					Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGCCTTCTTTGAAGAGCTCTA	0.582000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2					25			9		0.00136819	0.00643073	0.00136819	1	0
CYYR1	116159	broad.mit.edu	37	21	27852626	27852626	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:27852626C>T	uc002yme.3	-	2	621	c.299G>A	c.(298-300)aGg>aAg	p.R100K	CYYR1_uc002ymd.3_Missense_Mutation_p.R100K|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	100						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTGAGTCGTCCTGAGGATGCC	0.502000														33			11		0	0	0.00185496	0	0
ZNF215	7762	broad.mit.edu	37	11	6953603	6953603	+	Missense_Mutation	SNP	G	A	A	rs35628439		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:6953603G>A	uc001mey.3	+	2	688	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	ZNF215_uc010raw.2_Missense_Mutation_p.E34K|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.E34K	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	34					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTGGCAGCAGGAAACCAACCC	0.493000														75			32		0	0	0.00148497	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28454855	28454855	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:28454855G>A	uc003ceh.3	+	2	464	c.296G>A	c.(295-297)gGa>gAa	p.G99E	ZCWPW2_uc003cei.3_Missense_Mutation_p.G99E	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	99	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CTCCCTCTTGGAAGCCTGGTT	0.353000														66			22		0	0	0.000586117	0	0
TRPC5	7224	broad.mit.edu	37	X	111090344	111090344	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:111090344G>A	uc004epl.1	-	5	2617	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	TRPC5_uc004epm.1_Silent_p.S566S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	566					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CGTCTTACGTGGAGAAGGCAT	0.403000														55			25		0	0	0.000878237	0	0
PLCD1	5333	broad.mit.edu	37	3	38061693	38061693	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38061693G>A	uc003chm.3	-	1	602	c.248C>T	c.(247-249)cCg>cTg	p.P83L	PLCD1_uc003chn.3_Missense_Mutation_p.P62L	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	62	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGGGACTCCGGGGTCCGCAT	0.567000														66			33		0	0	0.00170553	0	0
PLCB1	23236	broad.mit.edu	37	20	8862337	8862337	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:8862337C>T	uc002wnb.3	+	31	3495	c.3492C>T	c.(3490-3492)ttC>ttT	p.F1164F	PLCB1_uc002wna.3_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1164					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|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 JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|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						TTTTGGAATTCGTGCAGGAAG	0.493000														132			54		0	0	0.000781405	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514273	58514273	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:58514273G>A	uc002ybb.3	-	0	1080	c.714C>T	c.(712-714)ttC>ttT	p.F238F	FAM217B_uc002yba.3_Intron|FAM217B_uc002ybc.3_5'Flank|FAM217B_uc010zzx.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3D (PPP1R3D), mRNA.	238	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CTGGAAAGCCGAAGGTGAAAA	0.687000														34			15		0	0	0.000566183	0	0
CLIP4	79745	broad.mit.edu	37	2	29404519	29404519	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:29404519G>A	uc002rmv.3	+	15	2117	c.1878G>A	c.(1876-1878)ggG>ggA	p.G626G	CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	626										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGCACGAGGGGTCTCAGGTCC	0.567000														57			11		0	0	0.000978159	0	0
ITFG3	83986	broad.mit.edu	37	16	314847	314847	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:314847C>T	uc002cgf.3	+	12	1680	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Silent_p.I495I|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Silent_p.I495I	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	495						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CCGCCTACATCCTTCTGACAG	0.672000														12			9		0	0	0.00136819	0	0
LRP2	4036	broad.mit.edu	37	2	170027124	170027124	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:170027124G>A	uc002ues.3	-	58	11530	c.11317C>T	c.(11317-11319)Ccc>Tcc	p.P3773S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3773	LDL-receptor class A 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATCGCGAGGGAATGCACTGC	0.502000														55			22		0	0	0.00152264	0	0
CD209	30835	broad.mit.edu	37	19	7808085	7808086	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:7808085_7808086CC>AA	uc002mht.2	-	6	1121_1122	c.1054_1055GG>TT	c.(1054-1056)ggg>TTg	p.G352L	CD209_uc010xju.1_Missense_Mutation_p.G191L|CD209_uc010dvp.2_Missense_Mutation_p.W290F|CD209_uc002mhr.2_Missense_Mutation_p.G328L|CD209_uc002mhs.2_Missense_Mutation_p.G282L|CD209_uc002mhu.2_Missense_Mutation_p.G260L|CD209_uc010dvq.2_Missense_Mutation_p.G346L|CD209_uc002mhq.2_Missense_Mutation_p.G352L|CD209_uc002mhv.2_Missense_Mutation_p.G328L|CD209_uc002mhx.2_Missense_Mutation_p.G308L|CD209_uc002mhw.2_Missense_Mutation_p.G216L|CD209_uc010dvr.2_Missense_Mutation_p.G116L	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	352	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTCTTCCTCCCCAACGTTGTTG	0.525000														417			12		0	0	6.4e-05	0	0
KXD1	79036	broad.mit.edu	37	19	18675783	18675783	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18675783C>T	uc021uqq.1	+	3	511	c.206C>T	c.(205-207)aCc>aTc	p.T69I	KXD1_uc021uqr.1_Missense_Mutation_p.T69I|KXD1_uc002njo.3_Missense_Mutation_p.T69I|KXD1_uc002njq.3_Missense_Mutation_p.T69I	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	69							protein binding										CACACGAGGACCCTAGTAGAG	0.592000														165			40		0	0	0.000509022	0	0
UBE3B	89910	broad.mit.edu	37	12	109928893	109928893	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:109928893C>T	uc001top.3	+	8	1277	c.674C>T	c.(673-675)tCc>tTc	p.S225F	UBE3B_uc001toq.3_Missense_Mutation_p.S225F|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.S225F	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	225					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCTTGTCTATCCAAAGGCACT	0.413000														51			29		0	0	0.000953801	0	0
CEP152	22995	broad.mit.edu	37	15	49073521	49073521	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:49073521G>A	uc001zwz.3	-	11	1642	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	CEP152_uc001zwy.3_Silent_p.L483L|CEP152_uc001zxa.2_Silent_p.L390L	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	483					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CAGATTCATAGAGAGAAATTT	0.299000														108			12		0	0	0.000219431	0	0
SPTA1	6708	broad.mit.edu	37	1	158644424	158644424	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158644424C>T	uc001fst.1	-	8	1353	c.1154G>A	c.(1153-1155)tGg>tAg	p.W385*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	385					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W385L(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCGTTCATCCAGCCTGAGAG	0.468000														121			34		0	0	0.00111076	0	0
MBD5	55777	broad.mit.edu	37	2	149247097	149247097	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:149247097C>T	uc002twm.4	+	11	4194	c.3197C>T	c.(3196-3198)tCt>tTt	p.S1066F	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.S324F|MBD5_uc002twp.3_Missense_Mutation_p.S116F	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1066						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTGACCCATCTCTTGGTCAA	0.512000														55			16		0	0	0.00152264	0	0
CNGA1	1259	broad.mit.edu	37	4	47939399	47939399	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:47939399C>T	uc003gxu.3	-	9	1460	c.1319G>A	c.(1318-1320)aGg>aAg	p.R440K	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R371K	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	371					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCAGAATCCCTCACGGGAGG	0.408000														107			26		0	0	0.001512	0	0
NAV2	89797	broad.mit.edu	37	11	20129252	20129252	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:20129252C>T	uc010rdm.2	+	37	7413	c.7052C>T	c.(7051-7053)tCg>tTg	p.S2351L	NAV2_uc001mpp.3_Missense_Mutation_p.S2231L|NAV2_uc001mpr.4_Missense_Mutation_p.S2295L|NAV2_uc021qew.1_Missense_Mutation_p.S2298L|NAV2_uc009yhx.3_Missense_Mutation_p.S1359L|NAV2_uc009yhz.3_Missense_Mutation_p.S940L|NAV2_uc001mpu.3_Missense_Mutation_p.S733L|NAV2_uc001mpv.3_Missense_Mutation_p.S57L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2354						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTGGACGGCTCGAGAGTGTGG	0.547000														206			30		0	0	0.0024448	0	0
COQ3	51805	broad.mit.edu	37	6	99828095	99828095	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:99828095G>A	uc003ppk.3	-	2	383	c.356C>T	c.(355-357)tCc>tTc	p.S119F		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	Homo sapiens coenzyme Q3 homolog, methyltransferase (S. cerevisiae) (COQ3), mRNA.	119					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		GTCATTCATGGAATGAAGAGG	0.398000														31			16		0	0	0.000566183	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530641	110530641	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110530641A>G	uc003yne.3	+	72	12039	c.11935A>G	c.(11935-11937)Aga>Gga	p.R3979G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3979					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.R3978S(1)		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)			CAGCAAAATAAGAGGGAAGAG	0.393000										HNSCC(38;0.096)				25			5		0	0	0.000602214	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100303	121100303	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121100303G>A	uc003eec.4	+	22	2723	c.2583G>A	c.(2581-2583)atG>atA	p.M861I	STXBP5L_uc011bji.2_Missense_Mutation_p.M837I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	861					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTCTGGGAATGGTGTTAATCA	0.408000														65			18		0	0	0.000566183	0	0
CLDN19	149461	broad.mit.edu	37	1	43203944	43203944	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:43203944C>T	uc001cht.1	-	2	620	c.429G>A	c.(427-429)ctG>ctA	p.L143L	CLDN19_uc001chu.2_Silent_p.L143L|CLDN19_uc010ojv.1_Intron	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	143					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTGGGTCACCAGGGTGGCAT	0.602000														76			16		0	0	0.000958276	0	0
DMBT1	1755	broad.mit.edu	37	10	124390770	124390770	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124390770C>T	uc001lgk.1	+	45	6038	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMBT1_uc001lgl.1_Missense_Mutation_p.R1968C|DMBT1_uc001lgm.1_Missense_Mutation_p.R1350C|DMBT1_uc021qaf.1_Missense_Mutation_p.R1978C|DMBT1_uc021qag.1_Missense_Mutation_p.R1968C|DMBT1_uc021qah.1_Missense_Mutation_p.R1350C|DMBT1_uc009xzz.1_Missense_Mutation_p.R1978C|DMBT1_uc010qtx.1_Missense_Mutation_p.R698C|DMBT1_uc009yab.1_Missense_Mutation_p.R681C|DMBT1_uc009yac.1_Missense_Mutation_p.R272C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1978	SRCR 14.				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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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)				CTGTAATCATCGTGAAGATGC	0.542000														85			10		0	0	0.000978159	0	0
SLIT1	6585	broad.mit.edu	37	10	98808855	98808855	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:98808855A>T	uc001kmw.2	-	13	1574	c.1322T>A	c.(1321-1323)tTc>tAc	p.F441Y	SLIT1_uc009xvh.1_Missense_Mutation_p.F451Y	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	441	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTCGCAAATGAAAGGGTTCTG	0.617000														49			16		0	0	0.00121646	0	0
RGS7BP	401190	broad.mit.edu	37	5	63802514	63802514	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:63802514C>T	uc003jtj.3	+	0	63	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	21					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCTCGATCTTCCAGATCAGCA	0.637000														36			9		0	0	0.000673444	0	0
KRT5	3852	broad.mit.edu	37	12	52913627	52913627	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:52913627G>A	uc001san.3	-	0	617	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	KRT5_uc009zmh.3_Missense_Mutation_p.P152S	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	152	Head.		P -> L (in WC-EBS; dbSNP:rs60617604).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTTGAGGGGAGTCAGGAGA	0.577000														51			31		0	0	0.000692331	0	0
TECRL	253017	broad.mit.edu	37	4	65274970	65274970	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:65274970G>A	uc003hcv.3	-	0	209	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	TECRL_uc003hcw.3_Missense_Mutation_p.H34Y	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	34					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GACAAAAAGTGAAAATTTCTC	0.413000														71			16		0	0	0.000566183	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791850	34791850	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:34791850G>A	uc002nvd.4	+	1	1331	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	KIAA0355_uc010edk.1_Missense_Mutation_p.E148K	NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	158										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGATCAGAAGGAATTCAGTCT	0.423000														31			19		0	0	0.00229938	0	0
MKL2	57496	broad.mit.edu	37	16	14342884	14342884	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:14342884G>A	uc010uza.2	+	12	2504	c.2349G>A	c.(2347-2349)caG>caA	p.Q783Q	MKL2_uc002dcg.3_Silent_p.Q733Q|MKL2_uc002dcj.3_Silent_p.Q28Q	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	772	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGTACCTCAGACACAAGACA	0.498000														14			14		0	0	0.000308642	0	0
PCLO	27445	broad.mit.edu	37	7	82784618	82784618	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82784618C>T	uc003uhx.2	-	1	1628	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R	PCLO_uc003uhv.2_Missense_Mutation_p.G447R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	398	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			S -> P (in Ref. 3; AAI22566).	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAATCTTTCCTGGCCCAGGC	0.592000														57			18		0	0	0.00074312	0	0
PIGR	5284	broad.mit.edu	37	1	207108853	207108853	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207108853G>A	uc001hez.3	-	4	1540	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	PIGR_uc009xbz.3_Silent_p.T452T	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	452	Ig-like V-type 4.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGATCTCCACGGTGGTCCTCC	0.562000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			6		0	0	0.000157383	0	0
ASTE1	28990	broad.mit.edu	37	3	130743590	130743590	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130743590C>A	uc010htm.1	-	2	768	c.561G>T	c.(559-561)aaG>aaT	p.K187N	NEK11_uc003enx.3_5'Flank|NEK11_uc003eny.3_5'Flank|NEK11_uc003eoa.3_5'Flank|NEK11_uc003enz.3_5'Flank|NEK11_uc011blk.2_5'Flank|NEK11_uc011bll.2_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.2_5'Flank|ASTE1_uc003env.1_Missense_Mutation_p.K187N|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	187					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTGTGTGCCCTTAATAGTGT	0.408000														50			12		0.00010058	0.000476481	0.00136819	1	0
C6	729	broad.mit.edu	37	5	41160246	41160246	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:41160246G>A	uc003jmk.2	-	10	1892	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	C6_uc003jml.1_Missense_Mutation_p.S561F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	561					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATACTTACTGGATTTATAATC	0.403000														27			15		0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9049941	9049941	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9049941C>T	uc002mkp.3	-	4	31894	c.31690G>A	c.(31690-31692)Gaa>Aaa	p.E10564K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10566	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTGATTCTCTATTGAAA	0.493000														60			26		0	0	0.000586117	0	0
CYFIP2	26999	broad.mit.edu	37	5	156752617	156752617	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156752617C>T	uc021ygm.1	+	16	2088	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	CYFIP2_uc011ddn.2_Silent_p.I625I|CYFIP2_uc011ddo.2_Silent_p.I455I|CYFIP2_uc021ygn.1_Silent_p.I650I|CYFIP2_uc021ygo.1_Silent_p.I650I|CYFIP2_uc003lwt.3_Silent_p.I554I|CYFIP2_uc011ddp.2_Silent_p.I385I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	676					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGACCATATCCTGGAAACCA	0.542000														175			43		0	0	0.000509022	0	0
LAMA1	284217	broad.mit.edu	37	18	7002281	7002281	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:7002281G>A	uc002knm.3	-	29	4458	c.4364C>T	c.(4363-4365)cCt>cTt	p.P1455L	LAMA1_uc010wzj.2_Missense_Mutation_p.P931L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1455	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGCTGTGAGGACAGGCACA	0.577000														38			17		0	0	0.000422831	0	0
MKS1	54903	broad.mit.edu	37	17	56285884	56285884	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:56285884G>A	uc002ivr.2	-	11	1160	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	MKS1_uc010wnq.2_Missense_Mutation_p.S159F|MKS1_uc021uam.1_Missense_Mutation_p.S352F	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	362	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATTGCCAGGGACTTGGTGGT	0.527000														45			30		0	0	0.000814825	0	0
MUC16	94025	broad.mit.edu	37	19	9072625	9072625	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9072625G>A	uc002mkp.3	-	2	15025	c.14821C>T	c.(14821-14823)Cct>Tct	p.P4941S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4943	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGGGCCAGGGAAGGATGTA	0.498000														55			22		0	0	0.00229938	0	0
GPR158	57512	broad.mit.edu	37	10	25887483	25887483	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:25887483G>A	uc001isj.3	+	10	2988	c.2928G>A	c.(2926-2928)atG>atA	p.M976I	GPR158_uc001isk.3_Missense_Mutation_p.M351I	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	976						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGGGATTATGAAACAACAAA	0.488000														71			16		0	0	0.000308642	0	0
TCOF1	6949	broad.mit.edu	37	5	149771578	149771578	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149771578C>T	uc003lry.3	+	20	3464	c.3356C>T	c.(3355-3357)gCc>gTc	p.A1119V	TCOF1_uc003lrz.3_Missense_Mutation_p.A1081V|TCOF1_uc011dch.2_Missense_Mutation_p.A1081V|TCOF1_uc003lrx.3_Missense_Mutation_p.A1042V|TCOF1_uc003lsa.3_Missense_Mutation_p.A1042V	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1119					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGTCCAGGCCAAAGGGACC	0.537000														33			8		0	0	0.000274275	0	0
PDZD4	57595	broad.mit.edu	37	X	153069158	153069158	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153069158G>A	uc004fja.1	-	7	2228	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	PDZD4_uc004fiy.1_Missense_Mutation_p.R579W|PDZD4_uc004fiz.1_Missense_Mutation_p.R654W|PDZD4_uc004fix.2_Missense_Mutation_p.R558W|PDZD4_uc011mze.1_Missense_Mutation_p.R545W|PDZD4_uc022chy.1_Missense_Mutation_p.R33W	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	654						cell cortex		p.R654W(2)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTCCTCCCGGATCTTCAGG	0.652000														40			25		0	0	0.000720815	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001725	18001725	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18001725G>A	uc002nhr.4	+	13	2029	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	561					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.G561E(4)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGGCCCCGGGATTGTTGTGG	0.602000														116			60		0	0	0.000781405	0	0
TNFSF14	8740	broad.mit.edu	37	19	6667457	6667457	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6667457C>T	uc002mfk.2	-	2	605	c.223G>A	c.(223-225)Gga>Aga	p.G75R	TNFSF14_uc002mfj.2_Missense_Mutation_p.G39R	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	75					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCTGCAGGTCCGTCCTGAAAA	0.617000														22			12		0	0	0.00136819	0	0
STAB1	23166	broad.mit.edu	37	3	52538484	52538484	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52538484C>T	uc003dej.3	+	10	1232	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	STAB1_uc003dei.1_Silent_p.G386G	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	386	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAGACCAGGGCTGCCGGGAAA	0.617000														70			23		0	0	0.001512	0	0
FAM213A	84293	broad.mit.edu	37	10	82180315	82180315	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:82180315T>G	uc021pux.1	+	1	222	c.92T>G	c.(91-93)cTt>cGt	p.L31R	FAM213A_uc001kcc.4_Missense_Mutation_p.L31R|FAM213A_uc001kcd.4_Missense_Mutation_p.L20R|FAM213A_uc001kcf.4_Missense_Mutation_p.L31R|FAM213A_uc001kce.4_Missense_Mutation_p.L31R|FAM213A_uc021puy.1_Missense_Mutation_p.L27R	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	31						extracellular region											GCATTGCTGCTTGCCAACACA	0.552000														46			10		0	0	0.000673444	0	0
ODZ2	57451	broad.mit.edu	37	5	167420062	167420062	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:167420062G>A	uc010jjd.3	+	4	1061	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	ODZ2_uc021yhi.1_Missense_Mutation_p.R284K|ODZ2_uc003lzq.2_Missense_Mutation_p.R233K|ODZ2_uc003lzr.4_Missense_Mutation_p.R163K	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTGCTGCCCAGGAATACTTTC	0.597000														38			11		0	0	0.00136819	0	0
DDX60L	91351	broad.mit.edu	37	4	169336629	169336629	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:169336629A>T	uc021xuh.1	-	20	3019	c.2909T>A	c.(2908-2910)aTa>aAa	p.I970K	DDX60L_uc003irq.4_Missense_Mutation_p.I970K|DDX60L_uc003irr.1_Missense_Mutation_p.I970K|DDX60L_uc003irs.1_Missense_Mutation_p.I665K	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	970							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TACTGAACATATATGCTTCTC	0.323000														29			9		0	0	0.000274275	0	0
FLJ43860	389690	broad.mit.edu	37	8	142476519	142476519	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:142476519G>A	uc003ywi.2	-	18	2548	c.2467C>T	c.(2467-2469)Ccc>Tcc	p.P823S	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	823							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGTCCAAGGGGATGGAGATG	0.657000														18			6		0	0	0.00116845	0	0
LIPJ	142910	broad.mit.edu	37	10	90362355	90362355	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:90362355C>T	uc001kff.3	+	8	1060	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	249					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GTGTATTTTTCACACAACCCA	0.313000														48			9		0	0	0.000673444	0	0
CACNA1A	773	broad.mit.edu	37	19	13414658	13414658	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:13414658C>T	uc002mwy.3	-	15	2263	c.2027G>A	c.(2026-2028)gGg>gAg	p.G676E	CACNA1A_uc010dzc.2_Missense_Mutation_p.G202E|CACNA1A_uc010xnd.2_Missense_Mutation_p.G676E|CACNA1A_uc021ups.1_Missense_Mutation_p.G676E|CACNA1A_uc010xne.2_Missense_Mutation_p.G676E|CACNA1A_uc010dze.2_Missense_Mutation_p.G676E|CACNA1A_uc021upt.1_Missense_Mutation_p.G677E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	677					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGACTTGATCCCGTCGTACAT	0.557000														193			69		0	0	0.000781405	0	0
FAM179B	23116	broad.mit.edu	37	14	45513937	45513937	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:45513937A>G	uc001wvw.3	+	12	4227	c.4018A>G	c.(4018-4020)Aca>Gca	p.T1340A	FAM179B_uc001wvv.3_Missense_Mutation_p.T1340A|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1340							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTAGATACCACAGTAAAAGT	0.368000														56			10		0	0	0.00185496	0	0
FAM81A	145773	broad.mit.edu	37	15	59813483	59813483	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:59813483C>T	uc002agc.2	+	8	1200	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	338										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						AGCATAGGATCCCTCAGGCAA	0.443000														39			14		0	0	0.000422831	0	0
GJC3	349149	broad.mit.edu	37	7	99521176	99521176	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:99521176C>T	uc011kjd.2	-	1	832	c.832G>A	c.(832-834)Gat>Aat	p.D278N		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	278						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					actcaggcatctctgggtcca	0.388000														93			42		0	0	0.000781405	0	0
NELL1	4745	broad.mit.edu	37	11	21594829	21594829	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:21594829C>T	uc009yid.3	+	19	2493	c.2340C>T	c.(2338-2340)gaC>gaT	p.D780D	NELL1_uc010rdp.2_Silent_p.D465D|NELL1_uc001mqe.3_Silent_p.D752D|NELL1_uc001mqf.3_Silent_p.D705D|NELL1_uc010rdo.2_Silent_p.D695D|NELL1_uc001mqh.3_Silent_p.D297D	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	752	VWFC 5.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGTCAGTGACCCCTGCCTAG	0.507000														15			11		0	0	0.000978159	0	0
ACTC1	70	broad.mit.edu	37	15	35083353	35083353	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:35083353C>T	uc001ziu.1	-	5	1195	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	318					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCAGTGATTTCCTTCTGCATA	0.453000														188			44		0	0	0.000680045	0	0
C22orf24	25775	broad.mit.edu	37	22	32330163	32330163	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:32330163C>T	uc003aly.3	-	2	591	c.424G>A	c.(424-426)Gag>Aag	p.E142K	C22orf24_uc003alx.3_Non-coding_Transcript	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	Homo sapiens chromosome 22 open reading frame 24 (C22orf24), mRNA.	142						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						AAGCTTTCCTCTGATCTTCCT	0.512000														16			4		0	0	0.00024832	0	0
PRPF6	24148	broad.mit.edu	37	20	62642815	62642815	+	Silent	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:62642815C>A	uc002yho.3	+	10	1651	c.1483C>A	c.(1483-1485)Cgg>Agg	p.R495R	PRPF6_uc002yhp.3_Silent_p.R495R	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	495					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CACCTCGCTGCGGGCCAACGG	0.582000														16			5		1.23904e-05	5.88139e-05	0.000602214	1	0
CSF3R	1441	broad.mit.edu	37	1	36932837	36932837	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:36932837C>T	uc001caw.2	-	15	2618	c.2034G>A	c.(2032-2034)atG>atA	p.M678I	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cav.2_Missense_Mutation_p.M678I|CSF3R_uc001cax.2_Missense_Mutation_p.M678I	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	678					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCACCTCCTCCATGATTGTGG	0.602000														96			68		0	0	0.000781405	0	0
SEC16B	89866	broad.mit.edu	37	1	177908853	177908853	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:177908853G>A	uc001glj.1	-	22	3056	c.2190C>T	c.(2188-2190)gcC>gcT	p.A730A	SEC16B_uc001glk.1_Silent_p.A406A|SEC16B_uc009wwy.1_Silent_p.A284A|SEC16B_uc001glh.1_Silent_p.A388A|SEC16B_uc001gli.1_Silent_p.A729A|SEC16B_uc009wwz.1_Silent_p.A388A	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	729			G -> R (in dbSNP:rs943762).		protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTGTTCCTCCGGCTCCCGAAA	0.408000														11			8		0	0	0.000274275	0	0
RNFT2	84900	broad.mit.edu	37	12	117217114	117217114	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:117217114C>T	uc009zwn.3	+	6	1076	c.843C>T	c.(841-843)atC>atT	p.I281I	RNFT2_uc001twb.4_Silent_p.I281I|RNFT2_uc001twa.4_Silent_p.I191I|RNFT2_uc001twc.4_Silent_p.I29I	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	281						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGTGCCTCATCGTGGCCCTGC	0.552000														25			15		0	0	0.000308642	0	0
ZNF696	79943	broad.mit.edu	37	8	144378433	144378433	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:144378433C>T	uc003yxy.4	+	2	997	c.588C>T	c.(586-588)ctC>ctT	p.L196L		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTTCAACCTCCTCCGGCACC	0.726000														10			4		0	0	0.00024832	0	0
APBB1	322	broad.mit.edu	37	11	6424607	6424607	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:6424607C>T	uc001mdb.1	-	4	1082	c.982G>A	c.(982-984)Gag>Aag	p.E328K	APBB1_uc001mdd.3_Missense_Mutation_p.E108K|APBB1_uc001mdc.1_Missense_Mutation_p.E328K|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.E93K|APBB1_uc009yey.2_Missense_Mutation_p.E69K|APBB1_uc009yfa.2_Missense_Mutation_p.E69K|APBB1_uc010rag.1_Missense_Mutation_p.E69K|APBB1_uc009yfb.2_Missense_Mutation_p.E69K|APBB1_uc001mde.2_Missense_Mutation_p.E69K|APBB1_uc010rah.1_Missense_Mutation_p.E69K	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	328					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGTCCCAGCTCCATTGGGGCC	0.567000														24			7		0	0	0.00198382	0	0
VCAN	1462	broad.mit.edu	37	5	82876171	82876171	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:82876171C>T	uc003kii.3	+	14	10465	c.10109C>T	c.(10108-10110)tCc>tTc	p.S3370F	VCAN_uc003kij.3_Missense_Mutation_p.S2383F|VCAN_uc010jau.2_Missense_Mutation_p.S1616F|VCAN_uc003kik.3_Missense_Mutation_p.S629F|VCAN_uc003kil.3_Missense_Mutation_p.S2034F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3370					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTAAAAATTCCTCATCAGCA	0.388000														53			6		0	0	0.00198382	0	0
TPO	7173	broad.mit.edu	37	2	1500405	1500405	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:1500405G>A	uc002qwr.3	+	12	2340	c.2254G>A	c.(2254-2256)Gac>Aac	p.D752N	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.D752N|TPO_uc002qwx.3_Missense_Mutation_p.D695N|TPO_uc002qwu.3_Missense_Mutation_p.D695N|TPO_uc010yio.2_Missense_Mutation_p.D579N|TPO_uc010yip.2_Missense_Mutation_p.D752N|TPO_uc002qwy.1_Missense_Mutation_p.D92N|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	752	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGAGAATGGGGACTTTGTGCA	0.547000														174			53		0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7522042	7522042	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:7522042C>T	uc010sge.2	-	14	4006	c.3980G>A	c.(3979-3981)gGa>gAa	p.G1327E	CD163L1_uc001qsy.3_Missense_Mutation_p.G1317E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1317	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.H1326N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACTCATTTCCTTTGCACCG	0.557000														55			26		0	0	0.000586117	0	0
HRH2	3274	broad.mit.edu	37	5	175111126	175111126	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:175111126C>T	uc003mdc.4	+	1	1534	c.890C>T	c.(889-891)aCc>aTc	p.T297I	HRH2_uc003mdd.2_Missense_Mutation_p.T297I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	297					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GACTTCCGCACCGGGTACCAA	0.572000														28			7		0	0	0.00198382	0	0
PSMA4	5685	broad.mit.edu	37	15	78834883	78834884	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:78834883_78834884GG>AA	uc002bdu.4	+	3	263_264	c.105_106GG>AA	c.(103-108)ttggga>ttAAga	p.G36R	PSMA4_uc010blf.3_Missense_Mutation_p.G36R|PSMA4_uc002bdv.4_Intron|PSMA4_uc002bdw.4_Missense_Mutation_p.G12R|PSMA4_uc002bdx.4_Intron	NM_002789	NP_001096138	P25789	PSA4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA.	36					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCACCTGTTTGGGAATTTTAGC	0.401000														213			51		0	0	6.4e-05	0	0
SRPX2	27286	broad.mit.edu	37	X	99919927	99919927	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:99919927G>A	uc004egb.3	+	4	992	c.512G>A	c.(511-513)gGa>gAa	p.G171E		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	171	Sushi 2.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AGATGGAGTGGAGGCGAGCCT	0.522000														7			4		0	0	0.000602214	0	0
SYT16	83851	broad.mit.edu	37	14	62567375	62567375	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:62567375G>A	uc001xfu.1	+	5	2085	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	SYT16_uc010tse.1_Missense_Mutation_p.E188K	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	630										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGAGATGAAGGAAACCAAAGG	0.502000														26			5		0	0	0.000602214	0	0
ATM	472	broad.mit.edu	37	11	108121761	108121761	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:108121761C>T	uc001pkb.1	+	9	1954	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	ATM_uc009yxr.1_Silent_p.F523F	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	523					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.E522fs*43(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACAGAGAATTCTGGAAGTTAT	0.408000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				83			44		0	0	0.000781405	0	0
ATP1A1	476	broad.mit.edu	37	1	116935540	116935540	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:116935540C>T	uc001ege.3	+	10	1736	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	ATP1A1_uc010owv.1_Missense_Mutation_p.S435F|ATP1A1_uc010oww.2_Missense_Mutation_p.S466F|ATP1A1_uc010owx.2_Missense_Mutation_p.S435F|ATP1A1OS_uc009whb.2_Non-coding_Transcript	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	466					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	p.S466S(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TGCTGTGGTTCCGTGAAGGAG	0.493000														71			30		0	0	0.00058488	0	0
CASZ1	54897	broad.mit.edu	37	1	10719910	10719910	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:10719910G>A	uc001aro.3	-	5	1509	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	CASZ1_uc001arp.1_Missense_Mutation_p.P397S|CASZ1_uc009vmx.2_Missense_Mutation_p.P421S|CASZ1_uc001arq.1_Missense_Mutation_p.P256S	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	397	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGGGTGCGGGAGCCAGGCTG	0.706000														39			12		0	0	0.00136819	0	0
DNAH5	1767	broad.mit.edu	37	5	13769652	13769652	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:13769652C>T	uc003jfd.2	-	56	9720	c.9678G>A	c.(9676-9678)gcG>gcA	p.A3226A	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3226	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3225D(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTTTCTTTCGCTTCCAGTT	0.433000									Kartagener syndrome					119			19		0	0	0.00188189	0	0
DAPK2	23604	broad.mit.edu	37	15	64231517	64231517	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:64231517T>G	uc002amr.3	-	4	528	c.497A>C	c.(496-498)cAc>cCc	p.H166P	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Missense_Mutation_p.H156P	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	166	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CAGCTTGATGTGTGGAATGGG	0.363000														85			14		0	0	0.000566183	0	0
FCGBP	8857	broad.mit.edu	37	19	40396005	40396005	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:40396005G>A	uc002omp.4	-	14	7400	c.7392C>T	c.(7390-7392)ttC>ttT	p.F2464F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2464	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCGGCCATCGAAGGTGGTGT	0.672000														69			16		0	0	0.000566183	0	0
DOCK2	1794	broad.mit.edu	37	5	169127124	169127124	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:169127124C>T	uc003maf.3	+	12	1319	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjl.1_5'Flank	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	413					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGGGATTCCCAGAGATCA	0.527000														74			13		0	0	0.000566183	0	0
PDGFC	56034	broad.mit.edu	37	4	157689065	157689065	+	Missense_Mutation	SNP	C	T	T	rs141820181		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:157689065C>T	uc003iph.2	-	4	1272	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	PDGFC_uc003ipi.2_Missense_Mutation_p.E98K|PDGFC_uc011cis.2_Missense_Mutation_p.E98K|PDGFC_uc011cir.2_Missense_Mutation_p.E105K	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	261					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	p.E261K(2)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTAGTTCTTCCCTTATGGAC	0.438000														56			12		0	0	0.00136819	0	0
ZW10	9183	broad.mit.edu	37	11	113629350	113629350	+	Missense_Mutation	SNP	G	A	A	rs145015648		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:113629350G>A	uc001poe.3	-	5	756	c.659C>T	c.(658-660)cCt>cTt	p.P220L	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	220	Interaction with RINT1.				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GGGTGGCATAGGGGTCTTCTC	0.383000														16			10		0	0	0.000442599	0	0
FCAR	2204	broad.mit.edu	37	19	55399406	55399406	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:55399406C>T	uc002qhr.1	+	3	591	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.R132W|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.R105W|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.R132W|FCAR_uc002qhw.1_Missense_Mutation_p.R120W|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.R120W|FCAR_uc002qhz.1_Missense_Mutation_p.R120W|FCAR_uc002qia.1_Missense_Mutation_p.R23W	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	132					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTCTGCAGATCGGGGTCTGGT	0.438000														52			38		0	0	0.000781405	0	0
VCAN	1462	broad.mit.edu	37	5	82808056	82808056	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:82808056G>A	uc003kii.3	+	5	1239	c.883G>A	c.(883-885)Gat>Aat	p.D295N	VCAN_uc003kij.3_Missense_Mutation_p.D295N|VCAN_uc010jau.2_Missense_Mutation_p.D295N|VCAN_uc003kik.3_Missense_Mutation_p.D295N|VCAN_uc003kih.4_Missense_Mutation_p.D295N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	295	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.C294C(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGACCAGTGCGATTACGGGTG	0.602000														26			5		0	0	0.00198382	0	0
ASUN	55726	broad.mit.edu	37	12	27070630	27070630	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:27070630G>A	uc001rhk.4	-	8	1463	c.926C>T	c.(925-927)tCg>tTg	p.S309L	ASUN_uc001rhj.4_5'UTR|ASUN_uc010sjk.2_Missense_Mutation_p.S208L	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	309					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTCTTTAAACGAGCCTTCTCG	0.353000														38			25		0	0	0.000878237	0	0
PLD2	5338	broad.mit.edu	37	17	4722387	4722387	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4722387G>C	uc002fzc.3	+	21	2308	c.2182G>C	c.(2182-2184)Gca>Cca	p.A728P	PLD2_uc002fzd.3_Missense_Mutation_p.A728P	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	728	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGTGGGGACAGCATGGCGGGA	0.592000														33			21		0	0	0.00229938	0	0
ARPP21	10777	broad.mit.edu	37	3	35780915	35780915	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:35780915C>T	uc011axy.2	+	15	1966	c.1754C>T	c.(1753-1755)cCa>cTa	p.P585L	ARPP21_uc003cga.3_Missense_Mutation_p.P565L|ARPP21_uc003cgb.3_Missense_Mutation_p.P584L|ARPP21_uc003cgf.3_Missense_Mutation_p.P420L|ARPP21_uc003cgg.3_Missense_Mutation_p.P107L	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	584	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCCCTTATGCCACAGCCGGCC	0.612000														43			13		0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9060131	9060131	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9060131C>T	uc002mkp.3	-	2	27519	c.27315G>A	c.(27313-27315)ggG>ggA	p.G9105G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9107	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAGTGGGTCCCTGACATAA	0.483000														26			9		0	0	0.000442599	0	0
KCNAB1	7881	broad.mit.edu	37	3	156192535	156192535	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:156192535C>T	uc003far.2	+	7	648	c.584C>T	c.(583-585)tCc>tTc	p.S195F	KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Missense_Mutation_p.S184F|KCNAB1_uc003fat.2_Missense_Mutation_p.S177F|KCNAB1_uc010hvt.1_Intron|KCNAB1_uc011boo.1_Missense_Mutation_p.S71F	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	195						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTGAAGGGCTCCCTCCAGAGG	0.428000														75			26		0	0	0.00127121	0	0
UBN1	29855	broad.mit.edu	37	16	4924587	4924587	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:4924587C>T	uc002cyb.3	+	14	2515	c.2176C>T	c.(2176-2178)Cca>Tca	p.P726S	UBN1_uc010uxw.2_Missense_Mutation_p.P726S|UBN1_uc002cyc.3_Missense_Mutation_p.P726S	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	726					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCCTTCTGCTCCACCACCAGC	0.502000														169			80		0	0	0.000781405	0	0
OR5K2	402135	broad.mit.edu	37	3	98217179	98217179	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:98217179C>T	uc011bgx.2	+	0	655	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AATATCTTATCTCTATATTCT	0.368000														30			23		0	0	0.00047179	0	0
MYH7	4625	broad.mit.edu	37	14	23898167	23898167	+	Silent	SNP	G	A	A	rs140218676	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23898167G>A	uc001wjx.3	-	13	1510	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	468	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AACTCACATCGAAGATCTCGA	0.542000														29			5		0	0	0.00198382	0	0
CDHR3	222256	broad.mit.edu	37	7	105656392	105656392	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:105656392C>T	uc003vdl.4	+	10	1455	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	CDHR3_uc003vdk.3_Silent_p.I97I|CDHR3_uc003vdm.4_Silent_p.I436I|CDHR3_uc011klt.2_Silent_p.I361I|CDHR3_uc003vdn.3_Silent_p.I166I	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	449	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ACGTTTATATCCTAACAAGCC	0.338000														30			8		0	0	0.000673444	0	0
FAP	2191	broad.mit.edu	37	2	163031376	163031376	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:163031376C>T	uc002ucd.3	-	22	2177	c.1969_splice	c.e22+1	p.A657_splice	FAP_uc010fpc.3_Splice_Site_p.A206_splice|FAP_uc010zct.2_Splice_Site_p.A632_splice	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	657					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TGTTTCCATACCGTAATATTC	0.398000														26			9		0	0	0.000442599	0	0
CP	1356	broad.mit.edu	37	3	148916180	148916180	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:148916180C>T	uc003ewy.4	-	8	1940	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G344R|CP_uc003ewz.3_Missense_Mutation_p.G563R|CP_uc010hvf.1_Missense_Mutation_p.G289R	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	563	F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.G563*(2)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGTAAACTTCCTTTCTTGCAT	0.358000														40			23		0	0	0.000586117	0	0
WRN	7486	broad.mit.edu	37	8	30999245	30999245	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30999245C>T	uc003xio.4	+	25	3975	c.3187C>T	c.(3187-3189)Ctt>Ttt	p.L1063F	WRN_uc010lvk.3_Missense_Mutation_p.L530F	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1063					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAGCCTCATCCTTCAAGCTAA	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					54			24		0	0	0.001512	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701670	103701670	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:103701670G>A	uc001vpy.4	-	4	1485	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	296					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGCGAGCTGGAAAATGCTGT	0.443000														46			10		0	0	0.00136819	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357167	38357167	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38357167C>T	uc003cib.2	+	7	1570	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SLC22A14_uc010hhc.1_Silent_p.F499F|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	499						integral to plasma membrane	organic cation transmembrane transporter activity	p.F498L(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGTGTTCTTCCTCTACACCG	0.577000														133			42		0	0	0.000781405	0	0
ABCF3	55324	broad.mit.edu	37	3	183910650	183910650	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:183910650C>T	uc003fmz.2	+	17	1849	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	ABCF3_uc003fna.2_Silent_p.V566V|ABCF3_uc003fnb.2_Silent_p.V253V	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	572	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCTAAACGTCAGTGCTGTGG	0.542000														72			35		0	0	0.000953801	0	0
CYTH2	9266	broad.mit.edu	37	19	48981785	48981785	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:48981785C>T	uc002pjj.4	+	10	1348	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y		NM_017457	NP_059431	Q99418	CYH2_HUMAN	Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA.	351	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGAGGGAAACCACATGGTGTA	0.592000														41			18		0	0	0.00121646	0	0
RNASE9	390443	broad.mit.edu	37	14	21024873	21024873	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21024873C>T	uc010ahp.3	-	4	626	c.371G>A	c.(370-372)aGa>aAa	p.R124K	RNASE9_uc010aho.3_Missense_Mutation_p.R119K|RNASE9_uc001vxq.4_Missense_Mutation_p.R124K|RNASE9_uc010ahq.3_Missense_Mutation_p.R124K|RNASE9_uc010ahr.3_Missense_Mutation_p.R124K|RNASE9_uc010ahs.3_Missense_Mutation_p.R119K|RNASE9_uc010aht.3_Missense_Mutation_p.R119K|RNASE9_uc010ahu.3_Missense_Mutation_p.R119K|RNASE9_uc021rnt.1_Missense_Mutation_p.R119K	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	119						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TGGCACAAATCTGTTGTAACA	0.368000														33			11		0	0	0.000673444	0	0
PSG8	440533	broad.mit.edu	37	19	43262317	43262317	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:43262317C>T	uc002ouo.2	-	2	644	c.546G>A	c.(544-546)atG>atA	p.M182I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.M182I|PSG8_uc010ein.3_Missense_Mutation_p.M60I|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	182	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TCTGACCATTCATCCACCACA	0.527000														109			53		0	0	0.000781405	0	0
DNAH9	1770	broad.mit.edu	37	17	11572995	11572995	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:11572995G>A	uc002gne.3	+	16	3305	c.3237G>A	c.(3235-3237)aaG>aaA	p.K1079K	DNAH9_uc010coo.3_Silent_p.K373K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1079	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACCCATCAAGGTGTTTGACG	0.463000														91			40		0	0	0.000781405	0	0
NLRC4	58484	broad.mit.edu	37	2	32476013	32476013	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:32476013G>A	uc002roi.3	-	3	1181	c.920C>T	c.(919-921)gCt>gTt	p.A307V	NLRC4_uc021vfq.1_Missense_Mutation_p.A307V|NLRC4_uc002roj.2_Missense_Mutation_p.A307V|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	307	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCGGATGAGAGCCTGGGCGCT	0.527000														47			16		0	0	0.00074312	0	0
FYCO1	79443	broad.mit.edu	37	3	46003793	46003793	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:46003793G>T	uc011bal.1	-	9	3473	c.3361C>A	c.(3361-3363)Cag>Aag	p.Q1121K	FYCO1_uc003cpb.4_Missense_Mutation_p.Q1121K	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	1121					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGCATCTTCTGGTCATTCCTC	0.498000														471			11		0.00136819	0.00643073	0.00136819	1	0
FAM131A	131408	broad.mit.edu	37	3	184062320	184062321	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:184062320_184062321GG>AA	uc003foe.3	+	5	806_807	c.663_664GG>AA	c.(661-666)caggac>caAAac	p.D222N	FAM131A_uc003foc.3_Missense_Mutation_p.D137N|FAM131A_uc003fog.3_Missense_Mutation_p.D191N	NM_144635	NP_001164564	Q6UXB0	F131A_HUMAN	Homo sapiens family with sequence similarity 131, member A (FAM131A), transcript variant 1, mRNA.	191						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCACCTCCAGGACCTGTTCAC	0.634000														152			20		0	0	6.4e-05	0	0
ISYNA1	51477	broad.mit.edu	37	19	18547219	18547219	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18547219C>T	uc002njd.2	-	5	898	c.680G>A	c.(679-681)tGg>tAg	p.W227*	ISYNA1_uc002nja.2_Nonsense_Mutation_p.W99*|ISYNA1_uc002njb.2_Nonsense_Mutation_p.W145*|ISYNA1_uc002njc.2_Nonsense_Mutation_p.W77*|ISYNA1_uc010xqh.2_Nonsense_Mutation_p.W25*|ISYNA1_uc002nje.2_Nonsense_Mutation_p.W173*	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	227					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GTTCGCCGTCCACAGCACTAT	0.627000														85			39		0	0	0.00222228	0	0
DBC1	1620	broad.mit.edu	37	9	121971167	121971167	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:121971167G>A	uc004bkc.2	-	6	1431	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	325					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGATGCTTCCGATGGTCAGGA	0.522000														43			22		0	0	0.00229938	0	0
FAM123C	205147	broad.mit.edu	37	2	131520353	131520354	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:131520353_131520354GG>AA	uc021voy.1	+	0	708_709	c.708_709GG>AA	c.(706-711)gaggac>gaAAac	p.D237N	FAM123C_uc002trw.2_Missense_Mutation_p.D237N|FAM123C_uc010fmv.2_Missense_Mutation_p.D237N|FAM123C_uc010fms.1_Missense_Mutation_p.D237N|FAM123C_uc010fmt.1_Missense_Mutation_p.D237N|FAM123C_uc010fmu.1_Missense_Mutation_p.D237N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	237										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCCTGTGTGAGGACGTGGCCTC	0.663000														121			23		0	0	6.4e-05	0	0
MUC4	4585	broad.mit.edu	37	3	195492185	195492185	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:195492185C>T	uc021xjp.1	-	8	13910	c.13754G>A	c.(13753-13755)tGg>tAg	p.W4585*	MUC4_uc003fuz.3_Nonsense_Mutation_p.W183*|MUC4_uc003fva.3_Nonsense_Mutation_p.W65*|MUC4_uc003fvb.3_Nonsense_Mutation_p.W101*|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Nonsense_Mutation_p.W101*|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Nonsense_Mutation_p.W94*|MUC4_uc021xjn.1_Nonsense_Mutation_p.W274*|MUC4_uc021xjo.1_Nonsense_Mutation_p.W65*|MUC4_uc021xjg.1_Nonsense_Mutation_p.W65*|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Nonsense_Mutation_p.W149*|MUC4_uc021xjj.1_Nonsense_Mutation_p.W149*|MUC4_uc021xjk.1_Nonsense_Mutation_p.W326*|MUC4_uc021xjl.1_Nonsense_Mutation_p.W65*|MUC4_uc003fvo.3_Nonsense_Mutation_p.W349*|MUC4_uc003fvp.3_Nonsense_Mutation_p.W298*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1342					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		TCCCTGCTGCCAGGAACAAGG	0.642000														35			8		0	0	0.000157383	0	0
ZNF264	9422	broad.mit.edu	37	19	57723875	57723875	+	Silent	SNP	C	T	T	rs139384482		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:57723875C>T	uc002qob.3	+	3	1824	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGAAGGACCTCATTCGCCACT	0.537000														20			9		0	0	0.000442599	0	0
DNAH9	1770	broad.mit.edu	37	17	11584057	11584057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:11584057G>A	uc002gne.3	+	18	3662	c.3594G>A	c.(3592-3594)tgG>tgA	p.W1198*	DNAH9_uc010coo.3_Nonsense_Mutation_p.W492*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1198	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAGAAATGGAACAACATAA	0.537000														23			11		0	0	0.00136819	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902310	24902310	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:24902310G>A	uc002dmu.3	+	8	1016	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	SLC5A11_uc002dms.3_Missense_Mutation_p.R198Q|SLC5A11_uc010vcd.2_Missense_Mutation_p.R227Q|SLC5A11_uc002dmt.3_Intron|SLC5A11_uc010vce.2_Missense_Mutation_p.R192Q|SLC5A11_uc010bxt.3_Missense_Mutation_p.R198Q	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	262					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CATATTTTCCGAGATCCGCTG	0.572000														62			39		0	0	0.00222228	0	0
DEFB125	245938	broad.mit.edu	37	20	76787	76787	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:76787G>A	uc002wcw.3	+	1	200	c.200G>A	c.(199-201)cGa>cAa	p.R67Q		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	67					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TATACTCGACGACCAGCATTT	0.368000														125			45		0	0	0.000781405	0	0
OR51S1	119692	broad.mit.edu	37	11	4870287	4870287	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:4870287C>T	uc010qyo.2	-	0	152	c.152G>A	c.(151-153)gGc>gAc	p.G51D		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGATGGTGCCATTTCCCAG	0.567000														50			10		0	0	0.000978159	0	0
SPEG	10290	broad.mit.edu	37	2	220350134	220350134	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220350134C>T	uc010fwg.3	+	30	7676	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2559					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGGGGTTATCGCCACCAAAC	0.617000														89			28		0	0	0.00106085	0	0
GLT25D2	23127	broad.mit.edu	37	1	183938490	183938490	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:183938490C>T	uc001gqr.3	-	4	1117	c.745G>A	c.(745-747)Gac>Aac	p.D249N	GLT25D2_uc010poj.1_Missense_Mutation_p.D249N|GLT25D2_uc001gqs.3_Missense_Mutation_p.D129N	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	249					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						GTCAGCTTGTCCGAGGCCTCC	0.537000														69			10		0	0	0.000673444	0	0
SLC3A1	6519	broad.mit.edu	37	2	44527121	44527121	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:44527121G>A	uc002ruc.4	+	4	981	c.903G>A	c.(901-903)cgG>cgA	p.R301R	SLC3A1_uc002rty.3_Silent_p.R301R|SLC3A1_uc002rtz.2_Silent_p.R301R|SLC3A1_uc002rua.3_Silent_p.R301R|SLC3A1_uc002rub.2_Silent_p.R301R|SLC3A1_uc002rud.4_Silent_p.R23R	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	301					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AAATTTTACGGTTCTGGCTCA	0.368000														147			21		0	0	0.00047179	0	0
HNF4G	3174	broad.mit.edu	37	8	76465427	76465427	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:76465427G>A	uc003yaq.3	+	5	769	c.499G>A	c.(499-501)Gat>Aat	p.D167N	HNF4G_uc003yar.3_Missense_Mutation_p.D204N	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	167					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D166N(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACCATTGGATGATCAGGTACA	0.323000														33			9		0	0	0.00185496	0	0
BAI1	575	broad.mit.edu	37	8	143623480	143623480	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:143623480C>T	uc003ywm.3	+	26	4068	c.3885C>T	c.(3883-3885)ccC>ccT	p.P1295P		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1295					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCCGCTATCCCGGCGGGCCCC	0.642000														29			8		0	0	0.000157383	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307245	39307245	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:39307245G>A	uc021wwc.1	-	1	892	c.852C>T	c.(850-852)ttC>ttT	p.F284F	CX3CR1_uc021wwa.1_Silent_p.F252F|CX3CR1_uc021wwb.1_Silent_p.F252F|CX3CR1_uc003cjl.3_Silent_p.F252F|CX3CR1_uc021wwd.1_Silent_p.F252F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	252					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCGTCTCCAGGAAAATCATAA	0.463000														95			41		0	0	0.00170553	0	0
SALL3	27164	broad.mit.edu	37	18	76753443	76753443	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:76753443C>T	uc002lmt.3	+	1	1452	c.1452C>T	c.(1450-1452)gtC>gtT	p.V484V	SALL3_uc010dra.3_Silent_p.V91V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTTACCCGGTCCCCGAGTACC	0.627000														19			7		0	0	0.000673444	0	0
DUOX1	53905	broad.mit.edu	37	15	45440112	45440112	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:45440112G>A	uc001zus.1	+	20	2905	c.2559G>A	c.(2557-2559)gaG>gaA	p.E853E	DUOX1_uc001zut.1_Silent_p.E853E|DUOX1_uc010bee.1_Silent_p.E233E|DUOX1_uc001zuu.3_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	853	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCTCTCCTGAGGAAAAGTCTC	0.557000														80			24		0	0	0.001512	0	0
ANXA10	11199	broad.mit.edu	37	4	169098892	169098892	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:169098892G>A	uc003irm.3	+	7	645	c.481_splice	c.e7-1	p.G161_splice	ANXA10_uc003irn.3_Splice_Site_p.G33_splice	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	161							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ACTTTACAGGGGACCAGAGAG	0.423000														42			10		0	0	0.00136819	0	0
MGAM	8972	broad.mit.edu	37	7	141752693	141752693	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:141752693C>T	uc003vwy.3	+	25	3122	c.3068C>T	c.(3067-3069)tCt>tTt	p.S1023F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1023					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)	TCCTTAAAGTCTTCCGTTTAT	0.463000														62			33		0	0	0.00058488	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030492	10030492	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:10030492G>A	uc002wno.3	+	6	1668	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.K425K|ANKRD5_uc010gbz.3_Silent_p.K236K	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	425							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						AAAAAGGAAAGAAAGGGAAAT	0.413000														54			25		0	0	0.000720815	0	0
SCN10A	6336	broad.mit.edu	37	3	38763776	38763776	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38763776G>A	uc003ciq.3	-	18	3480	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1160					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)	GCAGGATCATGAAGATGATGA	0.537000														76			13		0	0	0.00074312	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394590	233394590	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:233394590C>T	uc001hvl.2	-	4	1253	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	340						integral to membrane		p.D340N(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGGGCAGGTCCCCCTGGCAG	0.572000														66			9		0	0	0.000274275	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359453	70359453	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:70359453G>A	uc003hek.4	-	1	875	c.828C>T	c.(826-828)ttC>ttT	p.F276F	UGT2B4_uc011cap.2_Silent_p.F140F|UGT2B4_uc003hel.4_Silent_p.F276F	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	276					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTCCTCCAACGAACTCAACAT	0.413000														49			13		0	0	0.000308642	0	0
CHD5	26038	broad.mit.edu	37	1	6195349	6195349	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:6195349G>A	uc001amb.2	-	17	2922	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	937					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCATGTTCTTGAACACGTCAG	0.597000														108			38		0	0	0.000953801	0	0
ASS1	445	broad.mit.edu	37	9	133370318	133370318	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:133370318G>A	uc010mza.3	+	13	1771	c.1263G>A	c.(1261-1263)gtG>gtA	p.V421V	ASS1_uc004bzm.3_Silent_p.V345V|ASS1_uc004bzn.3_Silent_p.V345V	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	345					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGGAGCGAGTGGAAGGGAAAG	0.587000														33			19		0	0	0.00152264	0	0
AKR1C3	8644	broad.mit.edu	37	10	5149666	5149666	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:5149666C>T	uc001ihr.3	+	8	1126	c.943C>T	c.(943-945)Cct>Tct	p.P315S	AKR1C3_uc021pml.1_Missense_Mutation_p.P315S|AKR1C3_uc010qap.2_Missense_Mutation_p.P292S|AKR1C3_uc001ihu.3_Missense_Mutation_p.P315S	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	315					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TGCTAGCCACCCTAATTATCC	0.398000														45			9		0	0	0.000442599	0	0
ZNF208	7757	broad.mit.edu	37	19	22154722	22154722	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22154722G>A	uc021urr.1	-	3	3263	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGCCAGCTGAAGGCTTTGT	0.443000														54			24		0	0	0.000878237	0	0
BRSK1	84446	broad.mit.edu	37	19	55820080	55820080	+	Silent	SNP	C	T	T	rs143699775		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:55820080C>T	uc002qkf.3	+	19	2338	c.2211C>T	c.(2209-2211)tcC>tcT	p.S737S	BRSK1_uc002qkg.3_Silent_p.S721S|BRSK1_uc002qkh.3_Silent_p.S416S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	721					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACCAGCCCTCCGTGCAGGCCC	0.721000														17			11		0	0	0.000219431	0	0
TREML3P	340206	broad.mit.edu	37	6	41185596	41185596	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:41185596C>T	uc003oqb.3	-	0		c.90G>A								Homo sapiens triggering receptor expressed on myeloid cells-like 3 (TREML3), non-coding RNA.																		GTAAGGTACACCGACTTGGCG	0.498000														15			9		0	0	0.000442599	0	0
PIGX	54965	broad.mit.edu	37	3	196449298	196449298	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:196449298C>T	uc010iaj.3	+	2	348	c.189C>T	c.(187-189)atC>atT	p.I63I	PIGX_uc003fwx.4_Silent_p.I63I|PIGX_uc011btx.2_Non-coding_Transcript	NM_001166304	NP_001159776	Q8TBF5	PIGX_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class X (PIGX), transcript variant 1, mRNA.	63					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ACCTTTTAATCAAAGTGAAGT	0.373000														96			28		0	0	0.00127121	0	0
RLBP1	6017	broad.mit.edu	37	15	89753635	89753635	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:89753635C>T	uc002bnl.3	-	8	1215	c.835G>A	c.(835-837)Gag>Aag	p.E279K		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	279	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TCATCGATCTCCTGGTAGAAA	0.582000														55			12		0	0	0.000219431	0	0
HYDIN	54768	broad.mit.edu	37	16	70843758	70843758	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:70843758G>A	uc002ezr.3	-	84	14959	c.14808C>T	c.(14806-14808)gtC>gtT	p.V4936V	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4937										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)				TGCTGCCAAGGACAGTCTGGA	0.498000														204			102		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179577973	179577973	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179577973C>T	uc021vsy.1	-	89	23381	c.23156G>A	c.(23155-23157)gGa>gAa	p.G7719E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4380E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8646	Ig-like 59.						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)			GATCTCATTTCCTTCATGGAA	0.433000														16			8		0	0	0.000157383	0	0
ALMS1	7840	broad.mit.edu	37	2	73799546	73799546	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:73799546C>T	uc002sje.1	+	15	10650	c.10539C>T	c.(10537-10539)ttC>ttT	p.F3513F	ALMS1_uc002sjf.1_Silent_p.F3471F|ALMS1_uc002sjg.3_Silent_p.F2901F|ALMS1_uc002sjh.1_Silent_p.F2901F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3513					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						GGAAAGATTTCTTTCAGCATC	0.373000														36			7		0	0	0.00198382	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62670703	62670703	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:62670703G>A	uc001jli.3	-	4	676	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	RHOBTB1_uc009xpe.2_Missense_Mutation_p.L80F|RHOBTB1_uc001jlh.3_Missense_Mutation_p.L80F|RHOBTB1_uc001jlj.3_Missense_Mutation_p.L80F|RHOBTB1_uc001jlk.3_Missense_Mutation_p.L80F|RHOBTB1_uc001jlm.3_Missense_Mutation_p.L80F	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	80	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CAAAGCCTGAGAGAAACACTC	0.483000														39			6		0	0	0.00198382	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110496	151110496	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:151110496G>A	uc001ewv.3	-	8	969	c.633C>T	c.(631-633)ctC>ctT	p.L211L	SEMA6C_uc001ewu.3_Silent_p.L211L|SEMA6C_uc001eww.3_Intron|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	211	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCGGAGCGGAGTGGGGGCT	0.627000														61			22		0	0	0.00106085	0	0
HECTD1	25831	broad.mit.edu	37	14	31598187	31598187	+	Silent	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:31598187A>G	uc001wrc.1	-	24	4879	c.4390T>C	c.(4390-4392)Tta>Cta	p.L1464L	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.L932L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1464	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCAGGGCCTAACTTCCTTTCA	0.453000														66			18		0	0	0.000958276	0	0
BTLA	151888	broad.mit.edu	37	3	112184974	112184974	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:112184974G>A	uc003dza.4	-	4	1054	c.851C>T	c.(850-852)tCc>tTc	p.S284F	BTLA_uc003dzb.4_Missense_Mutation_p.S236F	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	Homo sapiens B and T lymphocyte associated (BTLA), transcript variant 1, mRNA.	284					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CACACATATGGATGCATATTC	0.418000														163			18		0	0	0.00152264	0	0
CNTN4	152330	broad.mit.edu	37	3	3030121	3030121	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:3030121G>A	uc003bpc.3	+	13	1790	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	CNTN4_uc003bpb.1_Missense_Mutation_p.G156E|CNTN4_uc021wsg.1_Missense_Mutation_p.G484E|CNTN4_uc003bpd.1_Missense_Mutation_p.G484E|CNTN4_uc003bpe.3_Missense_Mutation_p.G156E|CNTN4_uc003bpf.3_Missense_Mutation_p.G156E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	484	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AACCATTTTGGAACTGCTAGC	0.368000														58			17		0	0	0.000566183	0	0
RSF1	51773	broad.mit.edu	37	11	77412531	77412531	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:77412531G>A	uc001oyn.3	-	5	1863	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	RSF1_uc001oym.3_Silent_p.I329I	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	581					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GACATTCTAGGATTGGTGGGC	0.403000														131			56		0	0	0.000781405	0	0
MAPK13	5603	broad.mit.edu	37	6	36106805	36106805	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:36106805G>A	uc003ols.3	+	10	1089	c.991G>A	c.(991-993)Gag>Aag	p.E331K	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	331					Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTTAGAACACGAGAAACTCAC	0.597000														29			20		0	0	0.00188189	0	0
P4HA2	8974	broad.mit.edu	37	5	131543475	131543475	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:131543475G>A	uc003kwh.3	-	7	1570	c.1006C>T	c.(1006-1008)Ccg>Tcg	p.P336S	P4HA2_uc003kwg.3_Missense_Mutation_p.P336S|P4HA2_uc003kwi.3_Missense_Mutation_p.P336S|P4HA2_uc003kwk.3_Missense_Mutation_p.P336S|P4HA2_uc003kwl.3_Missense_Mutation_p.P336S|P4HA2_uc003kwj.3_Missense_Mutation_p.P336S	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	336						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ACGATGTGCGGGCTGTCCCAC	0.532000														115			16		0	0	0.00074312	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698219	111698219	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:111698219C>G	uc022cct.1	+	0	263	c.263C>G	c.(262-264)tCt>tGt	p.S88C	ZCCHC16_uc004epo.1_Missense_Mutation_p.S88C	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	88							nucleic acid binding|zinc ion binding	p.I87I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCCAAATCTCTAATCCTGCA	0.448000														22			11		0	0	0.00136819	0	0
PRKG2	5593	broad.mit.edu	37	4	82125861	82125861	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:82125861G>A	uc003hmh.2	-	0	354	c.341C>T	c.(340-342)tCt>tTt	p.S114F	PRKG2_uc011cch.1_Missense_Mutation_p.S114F	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	114					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCTATGGAGAGAGACCAATCC	0.547000														102			18		0	0	0.000566183	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235301	137235301	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:137235301G>A	uc003lby.3	+	4	677	c.621G>A	c.(619-621)tcG>tcA	p.S207S	PKD2L2_uc010jep.1_Silent_p.S147S|PKD2L2_uc003lbw.1_Silent_p.S207S|PKD2L2_uc003lbx.3_Silent_p.S207S|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	207						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATCAAAATCGAAATCTGAAA	0.368000														65			11		0	0	0.000673444	0	0
MBL2	4153	broad.mit.edu	37	10	54531277	54531277	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:54531277G>A	uc001jjt.3	-	0	184	c.119C>T	c.(118-120)tCt>tTt	p.S40F		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	40	Cys-rich.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GATGCCTGGAGAGCTACAGGC	0.552000														33			12		0	0	0.000219431	0	0
DNMT3B	1789	broad.mit.edu	37	20	31386272	31386272	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:31386272C>T	uc002wyc.3	+	14	1818	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.F479F|DNMT3B_uc002wye.3_Silent_p.F479F|DNMT3B_uc010ztz.2_Silent_p.F437F|DNMT3B_uc010zua.2_Silent_p.F403F|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.F491F|DNMT3B_uc002wyg.3_Silent_p.F198F|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	499	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGGTGTTTCTGTGTGGAGT	0.622000														49			11		0	0	0.00185496	0	0
CNST	163882	broad.mit.edu	37	1	246810883	246810883	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:246810883C>T	uc001ibp.3	+	8	1758	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L	CNST_uc001ibo.4_Silent_p.L460L	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	460					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGAAAGAACTCCGTTTGCCAC	0.478000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		155			55		0	0	0.000781405	0	0
C15orf2	23742	broad.mit.edu	37	15	24921125	24921125	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24921125G>A	uc001ywo.3	+	0	585	c.111G>A	c.(109-111)cgG>cgA	p.R37R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	37			R -> Q (in a colorectal cancer sample; somatic mutation).		cell differentiation|multicellular organismal development|spermatogenesis			p.R37Q(1)|p.R37R(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGCCCGGTCGGGCTCACTCTG	0.721000														24			5		0	0	0.000602214	0	0
CCNK	8812	broad.mit.edu	37	14	99959117	99959118	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:99959117_99959118CC>TT	uc001ygi.4	+	1	233_234	c.103_104CC>TT	c.(103-105)ccc>TTc	p.P35F		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	35					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GGCTCATACACCCTCACAACTT	0.510000														24			6		0	0	6.4e-05	0	0
FLRT3	23767	broad.mit.edu	37	20	14307645	14307645	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:14307645G>A	uc021war.1	-	0	508	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.P170S|FLRT3_uc002wow.2_Missense_Mutation_p.P170S	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	170					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAACCCCAGGGAATTGTGCTA	0.458000														50			17		0	0	0.00074312	0	0
TPH1	7166	broad.mit.edu	37	11	18047205	18047205	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18047205C>T	uc001mnp.2	-	6	873	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	283					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAACTAGGTTCAGCCAAAAGC	0.438000														44			21		0	0	0.00229938	0	0
CSMD1	64478	broad.mit.edu	37	8	2813131	2813131	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:2813131C>T	uc022aqr.1	-	63	10364	c.9974G>A	c.(9973-9975)gGa>gAa	p.G3325E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2655E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1217E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3326	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCGACTTTCCTGTCCATTT	0.488000														39			13		0	0	0.00185496	0	0
SYT10	341359	broad.mit.edu	37	12	33560282	33560283	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:33560282_33560283GG>AA	uc001rll.1	-	2	815_816	c.518_519CC>TT	c.(517-519)tcc>tTT	p.S173F	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	173						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTCTTCGGAAGGAACTGTGGCT	0.441000														58			26		0	0	6.4e-05	0	0
DUSP27	92235	broad.mit.edu	37	1	167095812	167095812	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167095812G>A	uc001geb.1	+	4	1460	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	482					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCATGGAACGAGAGGCTGCT	0.647000														27			14		0	0	0.000219431	0	0
EDEM1	9695	broad.mit.edu	37	3	5244719	5244719	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:5244719C>T	uc003bqi.3	+	4	1059	c.927C>T	c.(925-927)ctC>ctT	p.L309L	EDEM1_uc011asz.1_Silent_p.L87L|EDEM1_uc021wsl.1_Silent_p.L114L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	309					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CCGGTTCCCTCCTGGTGGAAT	0.537000														75			31		0	0	0.000491102	0	0
RHEB	6009	broad.mit.edu	37	7	151167708	151167708	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:151167708C>G	uc003wkh.1	-	6	824	c.411G>C	c.(409-411)ttG>ttC	p.L137F		NM_005614	NP_005605	Q15382	RHEB_HUMAN	Homo sapiens Ras homolog enriched in brain (RHEB), mRNA.	137					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	p.L137F(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AAGATTCTGCCAAAGCTTTCC	0.318000														86			10		0	0	0.000673444	0	0
DSG1	1828	broad.mit.edu	37	18	28926140	28926140	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28926140C>T	uc002kwp.3	+	13	2291	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	DSG1_uc010xbp.2_Silent_p.F52F|U6_uc021uin.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	693					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.F693V(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATATGAATTTCATGGAAAGCT	0.418000														24			10		0	0	0.00185496	0	0
KIF2C	11004	broad.mit.edu	37	1	45220441	45220441	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:45220441C>T	uc001cmg.4	+	7	798	c.683C>T	c.(682-684)cCa>cTa	p.P228L	KIF2C_uc010olb.2_Missense_Mutation_p.P187L|KIF2C_uc010olc.2_Missense_Mutation_p.P115L|KIF2C_uc001cmh.4_Missense_Mutation_p.P174L	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	228	Globular (Potential).|Negative regulator of microtubule-binding (By similarity).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	p.P228L(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AGTAGTTTTCCAAACTGGGAA	0.433000														151			50		0	0	0.000781405	0	0
FTCD	10841	broad.mit.edu	37	21	47570436	47570436	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:47570436C>T	uc002zig.3	-	5	684	c.640G>A	c.(640-642)Gga>Aga	p.G214R	FTCD_uc002zif.3_Missense_Mutation_p.G214R|FTCD_uc002zih.3_Missense_Mutation_p.G214R|FTCD_uc010gqf.3_Missense_Mutation_p.G214R|FTCD_uc010gqg.1_Missense_Mutation_p.G83R			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	214	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TTCAGACGTCCTGGCTGCAAA	0.582000														87			22		0	0	0.00188189	0	0
CHERP	10523	broad.mit.edu	37	19	16633892	16633893	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16633892_16633893GG>AA	uc002nei.1	-	10	2024_2025	c.1950_1951CC>TT	c.(1948-1953)ctccct>ctTTct	p.P651S	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.P190S	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	651	Pro-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCCCAGCAGGGAGATCGAAGT	0.609000														84			29		0	0	6.4e-05	0	0
PDE4A	5141	broad.mit.edu	37	19	10561537	10561537	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:10561537C>T	uc002moj.2	+	5	811	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	PDE4A_uc021uow.1_Silent_p.L213L|PDE4A_uc002mok.2_Silent_p.L209L|PDE4A_uc002mol.2_Silent_p.L174L|PDE4A_uc002mom.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	235					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCGGGAGACTCTGGAGGAGCT	0.602000														28			9		0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82545732	82545732	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82545732C>T	uc003uhx.2	-	6	11859	c.11570G>A	c.(11569-11571)aGa>aAa	p.R3857K	PCLO_uc003uhv.2_Missense_Mutation_p.R3857K|PCLO_uc010lec.3_Missense_Mutation_p.R822K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3788	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGAGCAGTTCTTGGTCGCTC	0.468000														87			58		0	0	0.000781405	0	0
PRPF8	10594	broad.mit.edu	37	17	1585460	1585460	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:1585460G>A	uc002fte.3	-	3	511	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	133						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGACCCAGGGAATCTCATTG	0.537000														23			22		0	0	0.00188189	0	0
HDAC5	10014	broad.mit.edu	37	17	42170530	42170530	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:42170530G>A	uc002iff.1	-	5	906	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F	HDAC5_uc002ifd.1_Missense_Mutation_p.L191F|HDAC5_uc002ife.1_Missense_Mutation_p.L191F|HDAC5_uc010czp.1_Missense_Mutation_p.L191F|HDAC5_uc002ifh.2_Missense_Mutation_p.L191F	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	191					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TTCGACAAGAGGAATTCCTGG	0.617000														56			21		0	0	0.000586117	0	0
PCDH15	65217	broad.mit.edu	37	10	55568855	55568855	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:55568855C>T	uc021pqw.1	-	35	5359	c.4964G>A	c.(4963-4965)gGa>gAa	p.G1655E	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.G1650E|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTTTTTCTCCTTCTGACTC	0.478000										HNSCC(58;0.16)				32			7		0	0	0.000157383	0	0
MYH7B	57644	broad.mit.edu	37	20	33575008	33575008	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:33575008C>T	uc002xbi.2	+	15	1508	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	355	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTATAAGATCGTGGGCGCCC	0.597000														135			31		0	0	0.00209593	0	0
ANKRD1	27063	broad.mit.edu	37	10	92677504	92677504	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:92677504G>A	uc001khe.1	-	4	785	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	179					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CACGGAATTCGATCTGGGCTC	0.418000														36			14		0	0	0.000308642	0	0
ACY3	91703	broad.mit.edu	37	11	67413180	67413180	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:67413180G>A	uc001omq.3	-	3	586	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	139					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGGCGGCACAGGTGCATGGCA	0.627000														47			23		0	0	0.000878237	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079153	134079153	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:134079153G>A	uc003eqf.2	-	6	1969	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	AMOTL2_uc003eqg.1_Silent_p.L560L|AMOTL2_uc003eqh.1_Silent_p.L558L|AMOTL2_uc003eqe.1_Silent_p.L185L	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	560										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCGCCAGGATCTGCTCC	0.612000														53			10		0	0	0.000673444	0	0
MUC17	140453	broad.mit.edu	37	7	100681981	100681981	+	Silent	SNP	C	G	G	rs148310097	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100681981C>G	uc003uxp.1	+	2	7337	c.7284C>G	c.(7282-7284)gtC>gtG	p.V2428V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2428	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTCACCACTTCTA	0.522000														265			6		0	0	0.00198382	0	0
MCEE	84693	broad.mit.edu	37	2	71357326	71357326	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:71357326T>C	uc002shs.2	-	0	69	c.24A>G	c.(22-24)gcA>gcG	p.A8A	MPHOSPH10_uc010feb.1_5'Flank|MPHOSPH10_uc002sht.2_5'Flank	NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	Homo sapiens methylmalonyl CoA epimerase (MCEE), mRNA.	8					L-methylmalonyl-CoA metabolic process|fatty acid beta-oxidation	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CATTCGCGGCTGCAGCCTTCA	0.697000														17			6		0	0	0.00198382	0	0
ALPK2	115701	broad.mit.edu	37	18	56246303	56246303	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:56246303C>T	uc002lhj.4	-	3	1919	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	569							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCAGCAGATTCTTTGGCAGAG	0.522000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			22		0	0	0.00047179	0	0
DNAH5	1767	broad.mit.edu	37	5	13701430	13701430	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:13701430A>T	uc003jfd.2	-	76	13496	c.13454T>A	c.(13453-13455)tTt>tAt	p.F4485Y	DNAH5_uc003jfc.2_Missense_Mutation_p.F653Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4485					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGGTTAAAAAAACCCGTCAT	0.428000									Kartagener syndrome					48			12		0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9065364	9065364	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9065364C>T	uc002mkp.3	-	2	22286	c.22082G>A	c.(22081-22083)aGa>aAa	p.R7361K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7363	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTGGCAATCTCTGAGTCAT	0.502000														32			7		0	0	0.000274275	0	0
SLC1A5	6510	broad.mit.edu	37	19	47280476	47280476	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:47280476G>A	uc002pfs.3	-	5	1865	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	SLC1A5_uc010xyh.2_Silent_p.I213I|SLC1A5_uc002pfq.3_Silent_p.I239I|SLC1A5_uc002pfr.3_Silent_p.I187I	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	415					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACAGGATGGTGATGATCTTTA	0.607000														53			20		0	0	0.000375601	0	0
PARD3	56288	broad.mit.edu	37	10	34620168	34620168	+	Missense_Mutation	SNP	G	A	A	rs139203609		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:34620168G>A	uc010qej.2	-	18	3049	c.2719C>T	c.(2719-2721)Cct>Tct	p.P907S	PARD3_uc010qep.2_Missense_Mutation_p.P817S|PARD3_uc010qeq.2_Missense_Mutation_p.P832S|PARD3_uc010qek.2_Missense_Mutation_p.P904S|PARD3_uc010qel.2_Missense_Mutation_p.P907S|PARD3_uc010qem.2_Missense_Mutation_p.P891S|PARD3_uc010qen.2_Missense_Mutation_p.P861S|PARD3_uc010qeo.2_Missense_Mutation_p.P861S|PARD3_uc001ixo.2_Missense_Mutation_p.P620S|PARD3_uc001ixr.2_Missense_Mutation_p.P904S|PARD3_uc001ixq.2_Missense_Mutation_p.P861S|PARD3_uc001ixp.2_Missense_Mutation_p.P873S|PARD3_uc001ixt.1_Missense_Mutation_p.P725S|PARD3_uc001ixu.2_Missense_Mutation_p.P849S|PARD3_uc001ixs.1_Missense_Mutation_p.P530S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	907	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.P907F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CGATGGAAAGGAATATCCCCA	0.532000														43			6		0	0	0.00116845	0	0
SLC26A7	115111	broad.mit.edu	37	8	92365218	92365218	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:92365218C>T	uc003yez.3	+	10	1547	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	SLC26A7_uc003yex.3_Silent_p.I436I|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.I436I	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	436						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGATAAAATCGATTGGGTAA	0.308000														69			9		0	0	0.000274275	0	0
AX747417	0	broad.mit.edu	37	3	95374282	95374282	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:95374282C>T	uc003dro.1	-	4		c.1580G>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		CCACATTCTTCCCTAGGGTTG	0.463000														29			7		0	0	0.000157383	0	0
BMP6	654	broad.mit.edu	37	6	7880438	7880438	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:7880438G>A	uc003mxu.4	+	6	1582	c.1404G>A	c.(1402-1404)atG>atA	p.M468I		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	468					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TTCACCTTATGAACCCCGAGT	0.448000														90			55		0	0	0.000781405	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938827	2938827	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:2938827C>T	uc001ajz.3	+	0	782	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	193						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CACGGAGCTCCTCATGCAGCT	0.627000														56			22		0	0	0.00047179	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18163816	18163816	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:18163816C>T	uc021wbb.1	+	7	2295	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	CSRP2BP_uc002wqk.3_Missense_Mutation_p.R492C|CSRP2BP_uc010zru.2_Missense_Mutation_p.R491C	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	620					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						GTCACAGATTCGTTCCCACCT	0.507000														83			44		0	0	0.000680045	0	0
OXCT1	5019	broad.mit.edu	37	5	41749663	41749663	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:41749663C>T	uc003jmn.3	-	14	1716	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	OXCT1_uc011cpo.2_Missense_Mutation_p.G65E|OXCT1_uc011cpp.2_Missense_Mutation_p.G65E	NM_000436	NP_000427	P55809	SCOT1_HUMAN	Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.	462					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ACATTGCTTTCCAGTCAATGG	0.299000														14			4		0	0	0.00116845	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513590	142513590	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:142513590A>T	uc011dbj.2	+	18	1792	c.1757A>T	c.(1756-1758)aAg>aTg	p.K586M	ARHGAP26_uc003lmt.3_Missense_Mutation_p.K586M|ARHGAP26_uc003lmw.3_Missense_Mutation_p.K586M	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	586	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTCTCGGAAGAAGAGCAGT	0.532000														77			20		0	0	0.00121646	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12883539	12883539	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:12883539C>T	uc002gnr.4	+	18	2255	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	ARHGAP44_uc010vvk.2_Missense_Mutation_p.T643I|ARHGAP44_uc010vvl.2_Missense_Mutation_p.T637I|ARHGAP44_uc002gns.4_Missense_Mutation_p.T437I|ARHGAP44_uc010vvm.2_Missense_Mutation_p.T637I|ARHGAP44_uc010vvn.2_Intron	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	643					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AGTCCTCACACCCTCCGGAAA	0.627000														25			6		0	0	0.000673444	0	0
RSPO2	340419	broad.mit.edu	37	8	109001376	109001376	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:109001376C>T	uc003yms.3	-	2	849	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	RSPO2_uc003ymq.3_5'UTR|RSPO2_uc003ymr.3_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	64					Wnt receptor signaling pathway	extracellular region	heparin binding	p.L63F(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCTTCTCTTCGAAGGAAGAA	0.478000														43			8		0	0	0.000442599	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073359	17073359	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:17073359C>T	uc002zlp.1	-	0	342	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	28					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.E28G(1)|p.E27G(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGCTCCTCCTCTTCTGGACTC	0.657000														65			25		0	0	0.000878237	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454559	48454559	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:48454559G>A	uc003csw.2	-	23	4825	c.4555C>T	c.(4555-4557)Ctg>Ttg	p.L1519L	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Silent_p.L1336L|PLXNB1_uc003csx.2_Silent_p.L1519L	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1519					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGTCCCTCAGGGCCTGCTTG	0.597000														92			47		0	0	0.000781405	0	0
ITIH5	80760	broad.mit.edu	37	10	7608174	7608174	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:7608174C>T	uc021pmv.1	-	12	2452	c.2346G>A	c.(2344-2346)ggG>ggA	p.G782G	ITIH5_uc021pmu.1_Silent_p.G568G	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	782					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G782G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCCCCCAGCTCCCCACCACCA	0.567000														15			7		0	0	0.00198382	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243150	23243150	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23243150C>T	uc001wgr.4	-	8	1559	c.1421G>A	c.(1420-1422)aGg>aAg	p.R474K	SLC7A7_uc001wgs.4_Missense_Mutation_p.R474K|SLC7A7_uc001wgt.4_Missense_Mutation_p.R474K|SLC7A7_uc001wgu.4_Missense_Mutation_p.R474K|SLC7A7_uc001wgv.4_Missense_Mutation_p.R474K	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	474					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACCCACGATCCTTCGGAGGTA	0.498000														45			15		0	0	0.000566183	0	0
HINT2	84681	broad.mit.edu	37	9	35813492	35813492	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:35813492G>A	uc003zyh.3	-	2	343	c.277C>T	c.(277-279)Cct>Tct	p.P93S	SPAG8_uc003zye.3_5'Flank|SPAG8_uc003zyg.3_5'Flank	NM_032593	NP_115982	Q9BX68	HINT2_HUMAN	Homo sapiens histidine triad nucleotide binding protein 2 (HINT2), nuclear gene encoding mitochondrial protein, mRNA.	93	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGCTTCTTAGGAATGACCAGG	0.587000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			19		0	0	0.00188189	0	0
ADCY8	114	broad.mit.edu	37	8	131964149	131964149	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:131964149G>A	uc003ytd.4	-	2	1462	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	ADCY8_uc010mds.3_Silent_p.F402F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	402					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATCCGATGGAACTGGTGCT	0.527000										HNSCC(32;0.087)				23			7		0	0	0.000157383	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	A	A	rs115882083	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:4869718G>A	uc010qyo.2	-	0	721	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000														44			8		0	0	0.000274275	0	0
TIMD4	91937	broad.mit.edu	37	5	156381593	156381593	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156381593G>A	uc003lwh.2	-	1	290	c.233C>T	c.(232-234)tCa>tTa	p.S78L	TIMD4_uc010jii.2_Missense_Mutation_p.S78L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	78	Ig-like V-type.					integral to membrane		p.S78*(2)|p.S78S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGACTTTCTTGAGGTCACCCT	0.527000														283			59		0	0	0.000781405	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601235	31601235	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:31601235C>T	uc003nvb.4	+	16	4648	c.4399C>T	c.(4399-4401)Caa>Taa	p.Q1467*	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Nonsense_Mutation_p.Q1467*	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1467	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCGCCTGGACCAAGTTATCCA	0.602000														37			20		0	0	0.00152264	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514903	233514903	+	Silent	SNP	G	A	A	rs67350624		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:233514903G>A	uc001hvt.4	+	8	2412	c.2151G>A	c.(2149-2151)aaG>aaA	p.K717K	KIAA1804_uc001hvu.4_Silent_p.K163K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	717					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CCCAGAGAAAGAAAACGGAGT	0.542000														38			7		0	0	0.00198382	0	0
IWS1	55677	broad.mit.edu	37	2	128281333	128281334	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:128281333_128281334CC>AA	uc002ton.2	-	1	371_372	c.68_69GG>TT	c.(67-69)cgg>cTT	p.R23L	IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Intron	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	23					transcription, DNA-dependent	nucleus	DNA binding	p.R23L(2)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACCCTGAATCCCGTTCATCCTG	0.426000														263			9		0	0	6.4e-05	0	0
GEMIN5	25929	broad.mit.edu	37	5	154308218	154308219	+	Splice_Site	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:154308218_154308219CC>TT	uc003lvx.3	-	6	865	c.782_splice	c.e6-1	p.G261_splice	GEMIN5_uc011ddk.1_Splice_Site_p.G260_splice	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	261					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATCATCACCCCTGCAGATTA	0.470000														34			8		0	0	6.4e-05	0	0
MAP2K6	5608	broad.mit.edu	37	17	67411137	67411137	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:67411137G>A	uc002jij.3	+	0	300	c.12G>A	c.(10-12)tcG>tcA	p.S4S	MAP2K6_uc002jii.3_Silent_p.S4S	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	4					DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGTCTCAGTCGAAAGGTAAGA	0.433000														80			43		0	0	0.000781405	0	0
COL6A6	131873	broad.mit.edu	37	3	130285598	130285598	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130285598G>A	uc010htl.3	+	3	1366	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	445	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGGCTCAGGGAGCACCCAGG	0.493000														30			5		0	0	0.000602214	0	0
CTSE	1510	broad.mit.edu	37	1	206328852	206328852	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:206328852G>A	uc001hdu.3	+	6	1037	c.919G>A	c.(919-921)Gat>Aat	p.D307N	CTSE_uc001hdv.3_Intron|CTSE_uc010prs.2_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	312					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGCCCCCGTGGATGGAGAAGT	0.602000														28			4		0	0	0.00198382	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671536	45671536	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45671536G>A	uc002zeg.1	-	8	1223	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	DNMT3L_uc002zeh.1_Missense_Mutation_p.P247S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	247					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	p.P246S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TGGCCCAGGGGAGGTGTGGCG	0.642000														89			20		0	0	0.000586117	0	0
MGA	23269	broad.mit.edu	37	15	42057156	42057156	+	Missense_Mutation	SNP	C	T	T	rs35259215		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:42057156C>T	uc010ucy.2	+	22	7998	c.7817C>T	c.(7816-7818)aCc>aTc	p.T2606I	MGA_uc010ucz.2_Missense_Mutation_p.T2397I	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2567						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAATTGCTCACCCTAAAAGGT	0.458000														90			19		0	0	0.00074312	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64608130	64608130	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:64608130G>T	uc003dmg.3	-	16	2554	c.2522C>A	c.(2521-2523)tCa>tAa	p.S841*	ADAMTS9_uc011bfo.2_Nonsense_Mutation_p.S813*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.S670*|ADAMTS9_uc003dmk.1_Nonsense_Mutation_p.S841*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	841	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCGATCTGTTGAGTTAATTCT	0.453000														461			11		0.00185496	0.00871517	0.00185496	1	0
WDR46	9277	broad.mit.edu	37	6	33248603	33248603	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:33248603C>A	uc003ods.3	-	10	1634	c.1277G>T	c.(1276-1278)tGg>tTg	p.W426L	WDR46_uc011dra.2_Missense_Mutation_p.W372L	NM_005452	NP_005443	O15213	WDR46_HUMAN	Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.	426										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CTGCCCTGCCCAGATGTTGAC	0.647000														24			31		4.34311e-12	2.07058e-11	0.00058488	1	0
IQUB	154865	broad.mit.edu	37	7	123101558	123101558	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:123101558G>A	uc003vkn.3	-	10	2437	c.1860C>T	c.(1858-1860)cgC>cgT	p.R620R	IQUB_uc011kny.2_5'UTR|IQUB_uc003vko.3_Silent_p.R620R|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	620										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GGTATATGCGGCGTGAGGTGG	0.378000														11			5		0	0	0.000602214	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016861	58016861	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:58016861C>T	uc001spe.3	+	6	1305	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	332						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCTTGCTTTCCCAACTCGGC	0.547000														179			116		0	0	0.000781405	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20592019	20592019	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:20592019C>T	uc002wrz.3	-	13	1883	c.1740G>A	c.(1738-1740)aaG>aaA	p.K580K	RALGAPA2_uc002wry.3_Silent_p.K195K|RALGAPA2_uc010zsg.2_Intron	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	580					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TATCCTTTGGCTTCTGCATGA	0.393000														286			100		0	0	0.000781405	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523919	24523919	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:24523919G>A	uc002wtw.1	+	1	819	c.186G>A	c.(184-186)ctG>ctA	p.L62L		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	62					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CGGCCAGCCTGGACAGCAGCA	0.627000														45			21		0	0	0.00188189	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140802612	140802612	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140802612C>T	uc003lkq.2	+	0	2076	c.1818C>T	c.(1816-1818)tcC>tcT	p.S606S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.S606S|PCDHGC5_uc003lkp.2_Silent_p.S606S	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	606	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGCTGTCCTATCGCCTGC	0.667000														67			12		0	0	0.00136819	0	0
FOXP1	27086	broad.mit.edu	37	3	71026984	71026984	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:71026984G>A	uc003dol.3	-	10	1666	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	FOXP1_uc003dom.3_Missense_Mutation_p.S372L|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.S448L|FOXP1_uc003doo.3_Missense_Mutation_p.S448L|FOXP1_uc003dop.3_Missense_Mutation_p.S448L|FOXP1_uc021xao.1_Missense_Mutation_p.S448L|FOXP1_uc003doq.1_Missense_Mutation_p.S447L|FOXP1_uc003doi.3_Missense_Mutation_p.S348L|FOXP1_uc003dok.3_Missense_Mutation_p.S374L|FOXP1_uc003doj.3_Missense_Mutation_p.S450L|FOXP1_uc003dor.1_Missense_Mutation_p.S226L	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	448					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCTACCTGACGAAATGGGCAC	0.488000			T	PAX5	ALL									71			29		0	0	0.0024448	0	0
KCNH1	3756	broad.mit.edu	37	1	211192179	211192179	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:211192179C>T	uc001hib.2	-	5	1148	c.978G>A	c.(976-978)ggG>ggA	p.G326G	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	326					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACCAATCTTCCCTGGATCAC	0.458000														87			17		0	0	0.000958276	0	0
QSOX1	5768	broad.mit.edu	37	1	180151427	180151428	+	Missense_Mutation	DNP	GG	AA	AA	rs148485913		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:180151427_180151428GG>AA	uc001gnz.3	+	5	800_801	c.725_726GG>AA	c.(724-726)cgg>cAA	p.R242Q	QSOX1_uc001gny.3_Missense_Mutation_p.R242Q|QSOX1_uc001gob.1_Non-coding_Transcript	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	242					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCTGTTCCGGAATGGCTCTG	0.604000														105			53		0	0	6.4e-05	0	0
GLYAT	10249	broad.mit.edu	37	11	58478127	58478127	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:58478127C>T	uc001nnb.3	-	4	579	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	GLYAT_uc001nnc.3_Missense_Mutation_p.E142K	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	142					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGAGTCAGTTCCTTGGCTGTT	0.428000														59			32		0	0	0.0024448	0	0
MLYCD	23417	broad.mit.edu	37	16	83948703	83948703	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:83948703C>T	uc002fgz.3	+	4	1111	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	364					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AAGGAAATCTCGGAGATCACA	0.547000														113			60		0	0	0.000781405	0	0
ZNF341	84905	broad.mit.edu	37	20	32328773	32328773	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:32328773C>T	uc002wzy.3	+	1	117	c.97C>T	c.(97-99)Ccg>Tcg	p.P33S	ZNF341_uc002wzx.3_Missense_Mutation_p.P33S|ZNF341_uc010geq.3_Silent_p.I8I|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGTCCCTGATCCGACAGGCCA	0.547000														79			21		0	0	0.00047179	0	0
FLG	2312	broad.mit.edu	37	1	152281024	152281024	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152281024C>T	uc001ezu.1	-	2	6374	c.6338G>A	c.(6337-6339)gGa>gAa	p.G2113E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2113	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2113E(2)		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)			TCCTTGTCTTCCTCCAGTGCT	0.567000									Ichthyosis					129			28		0	0	0.00127121	0	0
DSG4	147409	broad.mit.edu	37	18	28992824	28992824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28992824C>T	uc002kwr.2	+	14	2581	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	DSG4_uc002kwq.2_Nonsense_Mutation_p.R797*	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	797					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGATGAAGGTCGACCAGCCAA	0.398000														60			19		0	0	0.00229938	0	0
SRRM2	23524	broad.mit.edu	37	16	2808509	2808509	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:2808509C>A	uc002crk.3	+	4	1103	c.554C>A	c.(553-555)cCa>cAa	p.P185Q	SRRM2_uc002crj.1_Missense_Mutation_p.P89Q|SRRM2_uc002crl.1_Missense_Mutation_p.P185Q|SRRM2_uc010bsu.1_Missense_Mutation_p.P89Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	185	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACCAACCCCAaagcagaag	0.438000														210			8		0.000442599	0.00209095	0.000442599	1	0
TGM6	343641	broad.mit.edu	37	20	2380222	2380222	+	Missense_Mutation	SNP	G	A	A	rs147591485	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:2380222G>A	uc002wfy.1	+	5	749	c.688G>A	c.(688-690)Gac>Aac	p.D230N	TGM6_uc010gal.1_Missense_Mutation_p.D230N	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	230					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CAGCAACAACGACCGAGGTGT	0.622000														74			22		0	0	0.000878237	0	0
TIAM2	26230	broad.mit.edu	37	6	155450882	155450882	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:155450882C>T	uc003qqb.3	+	5	1798	c.525C>T	c.(523-525)gtC>gtT	p.V175V	TIAM2_uc003qqe.3_Silent_p.V175V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	175					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTTTAAGGGTCGAGTTCCACA	0.587000														23			12		0	0	0.00185496	0	0
ZFR2	23217	broad.mit.edu	37	19	3831710	3831710	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3831710G>A	uc002lyw.2	-	3	558	c.546C>T	c.(544-546)atC>atT	p.I182I	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	182						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGGAGGTCACGATGGAAGCTG	0.662000														23			11		0	0	0.00185496	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854285	12854286	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12854285_12854286GG>TT	uc001auj.2	+	2	612_613	c.509_510GG>TT	c.(508-510)tgg>tTT	p.W170F		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	170								p.W170L(3)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCCAGTGGGTTTACCAAA	0.436000														371			10		0	0	6.4e-05	0	0
GRM8	2918	broad.mit.edu	37	7	126882981	126882981	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:126882981A>G	uc003vlr.2	-	0	589	c.278T>C	c.(277-279)cTt>cCt	p.L93P	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.L93P|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	93					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GATGTTGGAAAGGAGATCAGG	0.498000										HNSCC(24;0.065)				16			9		0	0	0.000442599	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373394	86373394	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:86373394C>T	uc010sum.2	-	5	1341	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	MGAT4C_uc001tal.4_Silent_p.G370G|MGAT4C_uc001taj.4_Silent_p.G370G|MGAT4C_uc001tak.4_Silent_p.G370G|MGAT4C_uc001tai.4_Silent_p.G370G|MGAT4C_uc001tah.4_Silent_p.G370G	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	370					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAGGTGGTTTCCCCCAAAAGT	0.353000														7			9		0	0	0.000274275	0	0
GPR107	57720	broad.mit.edu	37	9	132866738	132866738	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:132866738G>A	uc004bze.2	+	12	1398	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	GPR107_uc004bzb.2_Missense_Mutation_p.E202K|GPR107_uc011mbx.1_Missense_Mutation_p.E391K|GPR107_uc004bzd.2_Missense_Mutation_p.E391K	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	391						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AGAGTCCACCGAGGAGGGCAC	0.517000														25			15		0	0	0.000566183	0	0
CCR5	1234	broad.mit.edu	37	3	46415098	46415098	+	Silent	SNP	G	A	A	rs147615392		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:46415098G>A	uc003cpo.4	+	2	827	c.705G>A	c.(703-705)agG>agA	p.R235R	CCR5_uc010hjd.3_Silent_p.R235R|CCR5_uc021wxb.1_Silent_p.R235R	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	235					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GGGCTGTGAGGCTTATCTTCA	0.473000														186			102		0	0	0.000781405	0	0
BHMT	635	broad.mit.edu	37	5	78411640	78411640	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:78411640G>A	uc003kfu.4	+	1	189	c.84G>A	c.(82-84)ggG>ggA	p.G28G	BHMT_uc011cti.2_Silent_p.G28G	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	28	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GAGATGGAGGGTTTGTCTTTG	0.478000														76			19		0	0	0.00188189	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74695376	74695376	+	Silent	SNP	C	T	T	rs140354458		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:74695376C>T	uc001jtf.1	-	3	654	c.587G>A	c.(586-588)tGa>tAa	p.*196*	PLA2G12B_uc009xqt.1_Silent_p.*106*|PLA2G12B_uc010qjz.1_Silent_p.*195*	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	0					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					ACTTCTTCCTCATAACTCTTC	0.502000														106			28		0	0	0.00178596	0	0
LOC650368	650368	broad.mit.edu	37	11	3430139	3430139	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:3430139C>T	uc010qxs.1	+	10		c.1238C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CGAGCAGCGCCTCCCAGTGGC	0.547000														14			8		0	0	0.000274275	0	0
FBXL19	54620	broad.mit.edu	37	16	30958239	30958239	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:30958239C>T	uc002eab.2	+	9	2034	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	FBXL19_uc002dzz.1_Missense_Mutation_p.R314C|FBXL19_uc002eaa.1_Missense_Mutation_p.R525C|ORAI3_uc002eac.3_5'Flank	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	626							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GTCCCCACTCCGCGAGACCCT	0.687000														18			7		0	0	0.000274275	0	0
TMEM170A	124491	broad.mit.edu	37	16	75481529	75481529	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:75481529G>A	uc002fee.1	-	2	448	c.362C>T	c.(361-363)gCc>gTc	p.A121V	TMEM170A_uc002feb.3_Missense_Mutation_p.A83V|TMEM170A_uc002fec.3_Missense_Mutation_p.A98V|TMEM170A_uc002fed.1_Non-coding_Transcript	NM_145254	NP_660297	Q8WVE7	T170A_HUMAN	Homo sapiens transmembrane protein 170A (TMEM170A), mRNA.	121						integral to membrane				endometrium(1)	1						CAGTGTGAGGGCTTCAAATGG	0.408000														50			29		0	0	0.00209593	0	0
OR56B1	387748	broad.mit.edu	37	11	5758004	5758004	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:5758004C>T	uc001mbt.2	+	0	327	c.258C>T	c.(256-258)atC>atT	p.I86I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.I86I|OR56B1_uc009yev.1_Silent_p.I86I	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CCACTACTATCATCCCTAAGA	0.468000														33			5		0	0	0.00116845	0	0
TRABD	80305	broad.mit.edu	37	22	50632027	50632027	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:50632027C>T	uc003bjs.1	+	2	161	c.56C>T	c.(55-57)cCg>cTg	p.P19L	TRABD_uc003bjr.2_5'UTR	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	Homo sapiens TraB domain containing (TRABD), mRNA.	19										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		CCTGTTGTGCCGTCAGAGGCT	0.622000														74			27		0	0	0.000491102	0	0
CCDC124	115098	broad.mit.edu	37	19	18054467	18054467	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18054467C>T	uc010xpz.2	+	4	660	c.615C>T	c.(613-615)ctC>ctT	p.L205L	CCDC124_uc002nhs.3_Silent_p.L205L	NM_001136203	NP_612451	Q96CT7	CC124_HUMAN	Homo sapiens coiled-coil domain containing 124 (CCDC124), transcript variant 2, mRNA.	205							DNA binding			central_nervous_system(1)|kidney(2)	3						AGGAGTGGCTCCGCTCTCCTG	0.612000														40			18		0	0	0.00074312	0	0
VDAC3	7419	broad.mit.edu	37	8	42259489	42259489	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:42259489C>T	uc022aul.1	+	5	512	c.510C>T	c.(508-510)ttC>ttT	p.F170F	VDAC3_uc010lxk.3_3'UTR|VDAC3_uc003xpc.3_Silent_p.F169F|VDAC3_uc011lct.2_Silent_p.F169F	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	169					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGAATAATTTCGCCCTGGGTT	0.463000														40			11		0	0	0.000219431	0	0
VWA5A	4013	broad.mit.edu	37	11	124007856	124007856	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:124007856C>T	uc001pzu.3	+	14	1969	c.1760C>T	c.(1759-1761)gCt>gTt	p.A587V	VWA5A_uc001pzt.3_Missense_Mutation_p.A587V	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	587										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCCTTCACAGCTTTCATTGCT	0.512000														55			32		0	0	0.000491102	0	0
BEND3	57673	broad.mit.edu	37	6	107392151	107392151	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:107392151G>A	uc003prs.2	-	4	894	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	82										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CCTGCTAGGAGAGCCTGCAAA	0.567000														24			11		0	0	0.000219431	0	0
ITGAX	3687	broad.mit.edu	37	16	31382509	31382509	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:31382509G>A	uc002ebt.3	+	14	1882	c.1815G>A	c.(1813-1815)ggG>ggA	p.G605G	ITGAX_uc002ebu.1_Silent_p.G605G|ITGAX_uc010vfk.1_Silent_p.G255G	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	605					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGGCTGTGGGGGCCCGGGGCC	0.662000														28			24		0	0	0.000586117	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513894	143513894	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:143513894G>A	uc003evn.3	-	3	691	c.482C>T	c.(481-483)tCt>tTt	p.S161F	SLC9A9_uc011bnk.2_Missense_Mutation_p.S35F	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	161					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CGTTAAAATAGATCCTAAGTT	0.373000														50			8		0	0	0.000442599	0	0
PTPRT	11122	broad.mit.edu	37	20	41419927	41419927	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:41419927C>T	uc002xkg.3	-	2	578	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	PTPRT_uc010ggj.3_Missense_Mutation_p.G132R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	132	MAM.				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	p.G132E(1)|p.Q131fs*17(1)		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)				ACAGGGTTCCCTTGGGGGCCA	0.572000														61			21		0	0	0.00121646	0	0
GEM	2669	broad.mit.edu	37	8	95262708	95262708	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:95262708G>A	uc003ygi.3	-	4	845	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	GEM_uc003ygj.3_Missense_Mutation_p.L241F	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	241					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCCGCCGAAGGCGCACCTGT	0.577000														38			4		0	0	0.000602214	0	0
NETO1	81832	broad.mit.edu	37	18	70526092	70526092	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:70526092C>T	uc002lkw.3	-	3	722	c.438G>A	c.(436-438)atG>atA	p.M146I	NETO1_uc002lky.2_Missense_Mutation_p.M146I|NETO1_uc002lkz.3_Missense_Mutation_p.M145I	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	146	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTGAAAATCCCATAGATTCCA	0.323000														41			13		0	0	0.000219431	0	0
KXD1	79036	broad.mit.edu	37	19	18679325	18679325	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18679325G>A	uc021uqq.1	+	5	720	c.415G>A	c.(415-417)Gac>Aac	p.D139N	KXD1_uc021uqr.1_Missense_Mutation_p.D139N|KXD1_uc002njo.3_Missense_Mutation_p.D139N|KXD1_uc002njq.3_Missense_Mutation_p.D139N	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	139							protein binding										CACCAGCCCCGACACCGTCTC	0.637000														146			53		0	0	0.000781405	0	0
BAHD1	22893	broad.mit.edu	37	15	40754187	40754187	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:40754187C>T	uc001zlu.2	+	2	1580	c.1509C>T	c.(1507-1509)ctC>ctT	p.L503L	BAHD1_uc001zlt.2_Silent_p.L502L|BAHD1_uc010bbp.1_Silent_p.L502L|BAHD1_uc001zlv.2_Silent_p.L503L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	503					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCACCCACTCCTGGGGTGCC	0.652000														33			7		0	0	0.000157383	0	0
LRP1B	53353	broad.mit.edu	37	2	141283561	141283561	+	Splice_Site	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:141283561A>G	uc002tvj.1	-	49	8849	c.7877_splice	c.e49-1	p.N2626_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2626	LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTGTGTTATCTAGAAGAA	0.363000										TSP Lung(27;0.18)				12			5		0	0	0.00198382	0	0
CNTN3	5067	broad.mit.edu	37	3	74347186	74347186	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:74347186C>T	uc003dpm.1	-	16	2403	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	775	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTTTAACTTCATATGGTGAA	0.438000														73			20		0	0	0.00047179	0	0
ABLIM3	22885	broad.mit.edu	37	5	148579908	148579908	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:148579908C>T	uc003lpy.2	+	4	616	c.365C>T	c.(364-366)aCc>aTc	p.T122I	ABLIM3_uc003lpz.1_Missense_Mutation_p.T122I|ABLIM3_uc003lqa.1_Missense_Mutation_p.T130I|ABLIM3_uc003lqb.3_Missense_Mutation_p.T122I|ABLIM3_uc003lqc.1_Missense_Mutation_p.T122I|ABLIM3_uc003lqd.1_Missense_Mutation_p.T122I|ABLIM3_uc003lqe.1_Missense_Mutation_p.T122I|ABLIM3_uc003lqf.3_Missense_Mutation_p.T122I	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	122	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAAGGTGACCTTCAGCGGT	0.542000														27			7		0	0	0.000442599	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215657	50215657	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50215657G>A	uc001zxu.3	-	16	1819	c.1677C>T	c.(1675-1677)tcC>tcT	p.S559S	ATP8B4_uc010ber.3_Silent_p.S432S|ATP8B4_uc010ufd.2_Silent_p.S369S|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	559					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTGCTCCTTTGGAATAAAGCT	0.373000														29			6		0	0	0.00116845	0	0
UNC5D	137970	broad.mit.edu	37	8	35624420	35624420	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:35624420G>A	uc003xjr.2	+	15	2642	c.2314_splice	c.e15-1	p.E772_splice	UNC5D_uc003xjs.2_Splice_Site_p.E767_splice|UNC5D_uc003xju.2_Splice_Site_p.E348_splice	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	772					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCCCTGCAGGAAGTCCCGTT	0.562000														25			7		0	0	0.000157383	0	0
LAMA3	3909	broad.mit.edu	37	18	21355756	21355756	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:21355756C>T	uc002kuq.3	+	10	1360	c.1274_splice	c.e10-1	p.P425_splice	LAMA3_uc010dlv.2_Splice_Site_p.P425_splice|LAMA3_uc002kur.3_Splice_Site_p.P425_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	425	Domain V.|Laminin EGF-like 2.				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)	TTTCTCTTAGCCTGCAGCTGT	0.493000														22			10		0	0	0.00185496	0	0
IQCF3	401067	broad.mit.edu	37	3	51864652	51864652	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51864652C>T	uc021wyy.1	+	6	1088	c.300C>T	c.(298-300)atC>atT	p.I100I	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Silent_p.I100I	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	100	IQ.									endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTCCTGCATCCGCATGTGGC	0.597000														69			16		0	0	0.00121646	0	0
GEMIN5	25929	broad.mit.edu	37	5	154292583	154292583	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:154292583G>A	uc003lvx.3	-	13	1954	c.1871C>T	c.(1870-1872)tCt>tTt	p.S624F	GEMIN5_uc011ddk.1_Missense_Mutation_p.S623F	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	624					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTCACTGGAGACTCAGGGCT	0.483000														42			10		0	0	0.00185496	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950737	209950737	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:209950737G>A	uc001hho.3	+	11	1514	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	TRAF3IP3_uc001hhm.2_Intron|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.R345Q|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.R365Q	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	365						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGGCCCTGCGATTTTTGGAA	0.537000														28			7		0	0	0.000157383	0	0
DNAH11	8701	broad.mit.edu	37	7	21781648	21781648	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:21781648C>T	uc003svc.3	+	49	8070	c.8039C>T	c.(8038-8040)cCa>cTa	p.P2680L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2680	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCATTTGCTCCATCAATTCTC	0.408000									Kartagener syndrome					72			14		0	0	0.000219431	0	0
HBP1	26959	broad.mit.edu	37	7	106840715	106840715	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:106840715C>T	uc003vdy.3	+	9	1682	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	HBP1_uc011klv.2_Missense_Mutation_p.P509L|HBP1_uc003vdz.3_Missense_Mutation_p.P499L|HBP1_uc003veb.1_Missense_Mutation_p.P499L	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	499					Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CGTTTAAATCCTGACTGTTGG	0.388000														58			9		0	0	0.000673444	0	0
CKAP2	26586	broad.mit.edu	37	13	53035666	53035666	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:53035666G>A	uc001vgv.2	+	3	905	c.708G>A	c.(706-708)atG>atA	p.M236I	CKAP2_uc001vgt.2_Missense_Mutation_p.M235I|CKAP2_uc001vgu.2_Missense_Mutation_p.M235I|CKAP2_uc010tha.1_Missense_Mutation_p.M187I	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.	236			M -> K (in dbSNP:rs35975899).		apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CCTCCAATATGACTGCCACTA	0.423000														38			10		0	0	0.000978159	0	0
MCCC2	64087	broad.mit.edu	37	5	70922545	70922545	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:70922545A>T	uc003kbs.4	+	6	841	c.703A>T	c.(703-705)Aag>Tag	p.K235*	MCCC2_uc010iyv.1_Nonsense_Mutation_p.K235*|MCCC2_uc003kbt.4_Intron|MCCC2_uc003kbu.1_Nonsense_Mutation_p.K104*	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	235	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CATTGTACGCAAGCAGGGTAC	0.473000														34			8		0	0	0.000157383	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208674	23208674	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:23208674G>A	uc002dlm.1	+	5	1142	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	335					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCATCGGCAGGATGAGTATCC	0.463000														39			13		0	0	0.000308642	0	0
C3orf22	152065	broad.mit.edu	37	3	126268807	126268807	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:126268807G>A	uc003ejb.3	-	3	659	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	110								p.R109H(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GTTGTCTGGGGAAGCGGCGAC	0.622000														64			9		0	0	0.000978159	0	0
IGSF9	57549	broad.mit.edu	37	1	159901688	159901688	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159901688C>T	uc001fur.2	-	10	1474	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	IGSF9_uc001fuq.2_Missense_Mutation_p.E410K|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	426	Ig-like 5.					cell junction|integral to membrane|synapse		p.S425S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAATATTCTTCCTTGGGCCGC	0.577000														68			13		0	0	0.000219431	0	0
GPR137	56834	broad.mit.edu	37	11	64055847	64055848	+	Silent	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:64055847_64055848CC>TT	uc010rni.2	+	6	1021_1022	c.993_994CC>TT	c.(991-996)tacctg>taTTtg	p.331_332YL>YL	GPR137_uc010rnj.2_Silent_p.273_274YL>YL|GPR137_uc001nzf.3_Silent_p.223_224YL>YL|GPR137_uc001nzi.3_Silent_p.273_274YL>YL|GPR137_uc021qkt.1_Silent_p.273_274YL>YL|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	273						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ACAAAGGCTACCTGGTATTTGG	0.634000														64			45		0	0	6.4e-05	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146734	156146734	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156146734C>T	uc001fnl.3	+	14	2411	c.2232C>T	c.(2230-2232)acC>acT	p.T744T	SEMA4A_uc009wrq.3_Silent_p.T744T|SEMA4A_uc001fnm.3_Silent_p.T744T|SEMA4A_uc001fnn.3_Silent_p.T612T|SEMA4A_uc001fno.3_Silent_p.T744T	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	744					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AATGCAGGACCTCTGCCAGTG	0.622000														34			9		0	0	0.000978159	0	0
ASIC1	41	broad.mit.edu	37	12	50453566	50453566	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:50453566G>A	uc001rvv.3	+	2	616	c.387G>A	c.(385-387)atG>atA	p.M129I	ASIC1_uc001rvw.3_Missense_Mutation_p.M129I|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_Missense_Mutation_p.M129I	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	129					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACACACAGATGGCAGATGAAA	0.552000														10			11		0	0	0.000978159	0	0
FLG	2312	broad.mit.edu	37	1	152281751	152281751	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152281751C>T	uc001ezu.1	-	2	5647	c.5611G>A	c.(5611-5613)Gag>Aag	p.E1871K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1871	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)			GATTGTTTCTCATTACGTGTT	0.577000									Ichthyosis					186			93		0	0	0.000781405	0	0
HOOK3	84376	broad.mit.edu	37	8	42829284	42829284	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:42829284C>T	uc003xpr.3	+	12	1510	c.1268C>T	c.(1267-1269)aCc>aTc	p.T423I	HOOK3_uc010lxq.1_Missense_Mutation_p.T423I	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.	423					Golgi localization|cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	FHF complex|cis-Golgi network|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTGAAGGAAACCATTGAAGAG	0.408000			T	RET	papillary thyroid									186			65		0	0	0.000781405	0	0
DNAH1	25981	broad.mit.edu	37	3	52417967	52417967	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52417967G>A	uc011bef.2	+	51	8503	c.8242G>A	c.(8242-8244)Gaa>Aaa	p.E2748K	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2748	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGGCCGGCAGAAGCCCTGAA	0.557000														21			11		0	0	0.000673444	0	0
BLVRA	644	broad.mit.edu	37	7	43846743	43846743	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:43846743C>T	uc010kxv.3	+	8	977	c.800C>T	c.(799-801)tCt>tTt	p.S267F	BLVRA_uc003tir.3_Missense_Mutation_p.S267F	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	267					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGCCAGTTCTCTGAGAAGGAA	0.433000														39			19		0	0	0.00074312	0	0
DGKI	9162	broad.mit.edu	37	7	137206693	137206693	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:137206693G>A	uc003vtt.3	-	20	2168	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	DGKI_uc003vtu.3_Missense_Mutation_p.R423C	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCCTCAGACGATCTGGGACA	0.463000														10			4		0	0	0.00116845	0	0
ETS1	2113	broad.mit.edu	37	11	128354817	128354818	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:128354817_128354818GG>AA	uc010sbs.1	-	4	946_947	c.630_631CC>TT	c.(628-633)ctccga>ctTTga	p.R211*	ETS1_uc001qej.2_Nonsense_Mutation_p.R255*|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Nonsense_Mutation_p.R211*	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	211					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R211*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGAGGGTCTCGGAGAATGACCG	0.530000														30			23		0	0	6.4e-05	0	0
BDNF	627	broad.mit.edu	37	11	27680087	27680087	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:27680087C>T	uc001mrv.3	-	1	383	c.25G>A	c.(25-27)Gtt>Att	p.V9I	BDNF-AS_uc009yip.3_Non-coding_Transcript|BDNF-AS_uc001mrn.3_Intron|BDNF-AS_uc001mro.3_Intron|BDNF-AS_uc001mrm.3_Intron|BDNF-AS_uc009yiq.3_Non-coding_Transcript|BDNF-AS_uc001mrp.3_Intron|BDNF-AS_uc009yij.3_Non-coding_Transcript|BDNF-AS_uc009yik.3_Intron|BDNF-AS_uc009yil.3_Non-coding_Transcript|BDNF-AS_uc009yin.3_Intron|BDNF-AS_uc009yio.3_Non-coding_Transcript|BDNF-AS_uc009yim.3_Non-coding_Transcript|BDNF-AS_uc009yir.3_Non-coding_Transcript|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Non-coding_Transcript|BDNF-AS_uc009yix.3_Intron|BDNF-AS_uc009yiy.3_Non-coding_Transcript|BDNF-AS_uc001mrq.4_Intron|BDNF-AS_uc009yiw.3_Non-coding_Transcript|BDNF-AS_uc009yiz.3_Non-coding_Transcript|BDNF-AS_uc001mrr.4_Intron|BDNF-AS_uc009yit.3_Intron|BDNF-AS_uc009yiv.3_Intron|BDNF-AS_uc009yja.3_Intron|BDNF-AS_uc009yjb.3_Non-coding_Transcript|BDNF_uc021qff.1_Missense_Mutation_p.V9I|BDNF_uc010rdu.2_Missense_Mutation_p.V9I|BDNF_uc001mrt.3_Missense_Mutation_p.V24I|BDNF_uc010rdw.2_Missense_Mutation_p.V9I|BDNF_uc009yjd.3_Missense_Mutation_p.V9I|BDNF_uc001mru.3_Missense_Mutation_p.V9I|BDNF_uc010rdx.2_Missense_Mutation_p.V9I|BDNF_uc009yjf.3_Missense_Mutation_p.V38I|BDNF_uc010rdy.2_Missense_Mutation_p.V9I|BDNF_uc009yjg.3_Missense_Mutation_p.V9I|BDNF_uc009yje.3_Missense_Mutation_p.V91I|BDNF_uc001mrw.4_Missense_Mutation_p.V9I|BDNF_uc001mry.4_Missense_Mutation_p.V9I|BDNF_uc001mrz.4_Missense_Mutation_p.V9I|BDNF_uc001mrx.3_Missense_Mutation_p.V9I|BDNF_uc001msa.3_Missense_Mutation_p.V17I	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	9						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TATGAAATAACCATAGTAAGG	0.493000														119			46		0	0	0.000781405	0	0
ADAD2	161931	broad.mit.edu	37	16	84224894	84224894	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:84224894G>A	uc002fhq.2	+	0	172	c.58G>A	c.(58-60)Gct>Act	p.A20T	ADAD2_uc002fhr.2_Missense_Mutation_p.A20T	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	20					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCCCGCCTGGCTGCATCGTT	0.711000														13			16		0	0	0.000958276	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81049619	81049620	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:81049619_81049620GG>AA	uc001kaf.2	+	8	1085_1086	c.513_514GG>AA	c.(511-516)tgggga>tgAAga	p.171_172WG>*R	ZMIZ1_uc001kag.2_Nonsense_Mutation_p.47_48WG>*R|ZMIZ1_uc001kah.1_Nonsense_Mutation_p.47_48WG>*R	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	171					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCACGGTTTGGGGAGTAACCAA	0.589000														73			12		0	0	6.4e-05	0	0
RGAG1	57529	broad.mit.edu	37	X	109694148	109694148	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:109694148C>T	uc004eor.2	+	2	549	c.303C>T	c.(301-303)tcC>tcT	p.S101S	RGAG1_uc011msr.1_Silent_p.S101S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	101										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGGCACTTTCCCCATTGCTAA	0.532000														40			33		0	0	0.00111076	0	0
RIF1	55183	broad.mit.edu	37	2	152273180	152273180	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152273180C>T	uc002txm.3	+	4	547	c.386C>T	c.(385-387)cCc>cTc	p.P129L	RIF1_uc010fnv.2_Missense_Mutation_p.P93L|RIF1_uc002txn.3_Missense_Mutation_p.P129L|RIF1_uc002txl.3_Missense_Mutation_p.P129L|RIF1_uc002txo.3_Missense_Mutation_p.P129L|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	129					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.P129P(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CAGACATTTCCCTCTGAAGTG	0.328000														401			138		0	0	0.000781405	0	0
RYR1	6261	broad.mit.edu	37	19	38995653	38995653	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:38995653C>T	uc002oit.3	+	51	8372	c.8242C>T	c.(8242-8244)Ccg>Tcg	p.P2748S	RYR1_uc002oiu.3_Missense_Mutation_p.P2748S|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2748	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTGATCATCCCGGAGAAGCT	0.567000														39			21		0	0	0.000375601	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043652	184043652	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:184043652C>T	uc003fnp.3	+	20	3406	c.3135C>T	c.(3133-3135)ccC>ccT	p.P1045P	EIF4G1_uc010hxx.3_Silent_p.P1052P|EIF4G1_uc003fnt.3_Silent_p.P756P|EIF4G1_uc010hxy.3_Silent_p.P1052P|EIF4G1_uc003fnq.3_Silent_p.P958P|EIF4G1_uc003fnr.3_Silent_p.P881P|EIF4G1_uc003fns.3_Silent_p.P1005P|EIF4G1_uc003fnv.4_Silent_p.P1046P|EIF4G1_uc003fnw.3_Silent_p.P1052P|EIF4G1_uc003fnx.3_Silent_p.P850P	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1045	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGACTTCCCCTTGTGGATG	0.557000														208			68		0	0	0.000781405	0	0
DOCK3	1795	broad.mit.edu	37	3	51393678	51393678	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51393678G>A	uc011bds.2	+	41	4431	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1470	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAGGAGAATGAATTCAAGGT	0.488000														25			11		0	0	0.000673444	0	0
GON4L	54856	broad.mit.edu	37	1	155792092	155792092	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:155792092G>A	uc001flz.2	-	3	970	c.873C>T	c.(871-873)gtC>gtT	p.V291V	GON4L_uc001fly.1_Silent_p.V291V|GON4L_uc009wrh.1_Silent_p.V291V|GON4L_uc001fma.1_Silent_p.V291V|GON4L_uc001fmc.3_Silent_p.V291V|GON4L_uc001fmd.4_Silent_p.V291V|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Silent_p.V119V|GON4L_uc001fmf.3_5'Flank	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	291					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGATGTTTCGGACATTGACTG	0.433000														128			26		0	0	0.001512	0	0
GMPPA	29926	broad.mit.edu	37	2	220370708	220370708	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220370708C>T	uc002vlv.3	+	10	1282	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	GMPPA_uc002vlr.3_Missense_Mutation_p.P303S	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	303					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		ACAGCTGGGCCCCAACGTCTC	0.587000														10			4		0	0	0.000602214	0	0
CAD	790	broad.mit.edu	37	2	27445150	27445150	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:27445150C>T	uc002rji.3	+	3	603	c.441C>T	c.(439-441)tcC>tcT	p.S147S	CAD_uc010eyw.3_Silent_p.S147S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	147	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AACCTTCATCCCTGCCATTCT	0.542000														54			20		0	0	0.000958276	0	0
STEAP3	55240	broad.mit.edu	37	2	120005343	120005343	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:120005343C>T	uc002tlp.3	+	3	738	c.581C>T	c.(580-582)tCc>tTc	p.S194F	STEAP3_uc002tlq.3_Missense_Mutation_p.S204F|STEAP3_uc002tlr.3_Missense_Mutation_p.S194F|STEAP3_uc010fle.3_Missense_Mutation_p.S194F	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	194					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GACATGGGATCCCTGGCGTCA	0.667000														22			6		0	0	0.00116845	0	0
MAPK4	5596	broad.mit.edu	37	18	48252373	48252373	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:48252373G>A	uc002lev.3	+	4	1895	c.895G>A	c.(895-897)Gat>Aat	p.D299N	MAPK4_uc010xdm.2_Missense_Mutation_p.D88N|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	299	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TAACCCCATGGATCGCCTAAC	0.552000														80			8		0	0	0.000274275	0	0
KCND2	3751	broad.mit.edu	37	7	119915781	119915781	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:119915781C>T	uc003vjj.1	+	0	2060	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	365					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGTATACCATCGTCACCATGA	0.507000														59			16		0	0	0.000958276	0	0
PKN2	5586	broad.mit.edu	37	1	89279410	89279410	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:89279410G>A	uc001dmn.3	+	15	2615	c.2273G>A	c.(2272-2274)aGa>aAa	p.R758K	PKN2_uc010osp.2_Missense_Mutation_p.R742K|PKN2_uc010osq.2_Missense_Mutation_p.R601K|PKN2_uc009wcv.3_Missense_Mutation_p.R710K|PKN2_uc010osr.2_Missense_Mutation_p.R423K	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	758	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCTGAACCAAGAGCTGTGTGA	0.378000														149			68		0	0	0.000781405	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187572	7187572	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7187572C>T	uc002gfp.3	+	5	801	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Silent_p.L191L	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	201					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CACTGCCAGCCTGTGGCCACT	0.627000														36			28		0	0	0.000491102	0	0
MARCH11	441061	broad.mit.edu	37	5	16067614	16067614	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:16067614G>A	uc003jfo.2	-	3	1388	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	MARCH11_uc010itw.1_Missense_Mutation_p.S148L	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	392						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AACCTCCCCCGAGCTGTTATC	0.463000														118			27		0	0	0.000491102	0	0
ARMC5	79798	broad.mit.edu	37	16	31477422	31477422	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:31477422C>T	uc010vfn.2	+	7	2429	c.2305C>T	c.(2305-2307)Ctg>Ttg	p.L769L	ARMC5_uc010vfo.2_Silent_p.L706L|ARMC5_uc002ecc.3_Silent_p.L674L|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Silent_p.L482L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	674	BTB.						binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTGGCGCCGGCTGCTTCTGGA	0.662000														38			19		0	0	0.000958276	0	0
CALR3	125972	broad.mit.edu	37	19	16591507	16591507	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16591507C>T	uc002ned.2	-	7	992	c.929G>A	c.(928-930)gGa>gAa	p.G310E	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	310	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						AAAAATGGTTCCAGATCTCAC	0.348000														66			21		0	0	0.00121646	0	0
LRRC7	57554	broad.mit.edu	37	1	70494040	70494040	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:70494040G>A	uc001dep.3	+	15	1897	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	623						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCCCAAAGGAGATTACAGT	0.393000														24			6		0	0	0.000157383	0	0
SQRDL	58472	broad.mit.edu	37	15	45968449	45968449	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:45968449G>A	uc001zvu.3	+	6	998	c.805G>A	c.(805-807)Gat>Aat	p.D269N	SQRDL_uc001zvv.3_Missense_Mutation_p.D269N	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	269							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGTCCGAGCCGATAAACAAGA	0.478000														70			18		0	0	0.00121646	0	0
MINK1	50488	broad.mit.edu	37	17	4797353	4797353	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4797353C>T	uc010vsl.2	+	21	2879	c.2635C>T	c.(2635-2637)Ccc>Tcc	p.P879S	MINK1_uc010vsk.2_Missense_Mutation_p.P850S|MINK1_uc010vsm.2_Missense_Mutation_p.P859S|MINK1_uc010vsn.2_Missense_Mutation_p.P842S|MINK1_uc010vso.2_Missense_Mutation_p.P787S|MINK1_uc010vsp.2_Missense_Mutation_p.P340S	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	879	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CGGGACCCAGCCCCCATACGG	0.667000														10			9		0	0	0.000274275	0	0
SNORD114-20	767598	broad.mit.edu	37	14	101447342	101447342	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:101447342G>A	uc001yjk.1	+	1		c.1_splice	c.e1-1		SNORD114-21_uc001yjl.3_5'Flank|SNORD114-22_uc001yjm.3_5'Flank					Homo sapiens small nucleolar RNA, C/D box 114-20 (SNORD114-20), small nucleolar RNA.																		CCTGTCCTGTGGATCGATGAT	0.388000														54			10		0	0	0.000978159	0	0
FAM179A	165186	broad.mit.edu	37	2	29225440	29225440	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:29225440C>T	uc010ezl.3	+	4	817	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	FAM179A_uc010ymm.2_Silent_p.L156L	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	156							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGAGTTCCCCTGCACAGCAC	0.627000														17			8		0	0	0.000442599	0	0
SBF1	6305	broad.mit.edu	37	22	50903087	50903087	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:50903087G>A	uc003blh.3	-	13	1707	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SBF1_uc011arx.2_Silent_p.P168P|SBF1_uc003bli.2_Silent_p.P505P	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	504					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGGGAAGGGTCGGGGCA	0.677000														105			30		0	0	0.0024448	0	0
TTC12	54970	broad.mit.edu	37	11	113233138	113233138	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:113233138C>T	uc001pnv.3	+	18	1753	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	TTC12_uc001pnu.3_Silent_p.L544L|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Silent_p.L394L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	544							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGCTGGTGTTCTGAGCCGGAC	0.438000														100			53		0	0	0.000781405	0	0
CROCC	9696	broad.mit.edu	37	1	17263258	17263259	+	Silent	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:17263258_17263259CC>TT	uc001azt.2	+	8	1152_1153	c.1083_1084CC>TT	c.(1081-1086)gccctg>gcTTtg	p.361_362AL>AL	CROCC_uc009voy.1_Silent_p.64_65AL>AL|CROCC_uc009voz.1_Silent_p.124_125AL>AL	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	361					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGAAACAGGCCCTGCTGCAGGC	0.683000														19			7		0	0	6.4e-05	0	0
SVEP1	79987	broad.mit.edu	37	9	113275290	113275290	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:113275290G>A	uc010mtz.3	-	4	1556	c.1219C>T	c.(1219-1221)Cac>Tac	p.H407Y	SVEP1_uc010mua.1_Missense_Mutation_p.H407Y|SVEP1_uc004beu.2_Missense_Mutation_p.H407Y|SVEP1_uc004bev.3_Missense_Mutation_p.H151Y	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	407	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATCCAGGGTGACATCGGACC	0.493000														53			22		0	0	0.00229938	0	0
C22orf42	150297	broad.mit.edu	37	22	32548057	32548057	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:32548057G>A	uc003amd.3	-	3	438	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	133										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TACGTACGGTGGTCGTGCTTG	0.358000														65			16		0	0	0.000422831	0	0
NRK	203447	broad.mit.edu	37	X	105190359	105190359	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:105190359C>T	uc004emd.3	+	25	4556	c.4253C>T	c.(4252-4254)tCt>tTt	p.S1418F	NRK_uc011msi.2_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1419	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCTATTGGTTCTGAAAAAAGA	0.393000										HNSCC(51;0.14)				21			9		0	0	0.000274275	0	0
OR5A1	219982	broad.mit.edu	37	11	59211305	59211305	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:59211305G>A	uc001nnx.1	+	0	664	c.664G>A	c.(664-666)Ggt>Agt	p.G222S		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TATCTCCTATGGTTACATAGT	0.532000														68			42		0	0	0.000509022	0	0
PEBP1	5037	broad.mit.edu	37	12	118575869	118575869	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:118575869C>T	uc001twu.1	+	1	306	c.161C>T	c.(160-162)tCg>tTg	p.S54L	PEBP1_uc010szc.1_Missense_Mutation_p.S54L	NM_002567	NP_002558	P30086	PEBP1_HUMAN	Homo sapiens phosphatidylethanolamine binding protein 1 (PEBP1), mRNA.	54							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCAGCATTTCGTGGGATGGT	0.502000														30			6		0	0	0.000157383	0	0
KDM3B	51780	broad.mit.edu	37	5	137727023	137727023	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:137727023C>T	uc003lcy.1	+	7	1902	c.1702C>T	c.(1702-1704)Ctg>Ttg	p.L568L	KDM3B_uc010jew.1_Silent_p.L224L|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	568					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGCTCAGGCCTGTGTAAAGG	0.512000														35			15		0	0	0.000422831	0	0
PTGFR	5737	broad.mit.edu	37	1	78959146	78959146	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:78959146G>A	uc001din.3	+	1	984	c.718G>A	c.(718-720)Ggc>Agc	p.G240S	PTGFR_uc001dim.3_Missense_Mutation_p.G240S	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	240					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCACAGACAAGGCAGATCTCA	0.413000														90			44		0	0	0.000781405	0	0
CHD2	1106	broad.mit.edu	37	15	93515498	93515498	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:93515498C>A	uc002bsp.3	+	18	2931	c.2356C>A	c.(2356-2358)Ctc>Atc	p.L786I	CHD2_uc002bso.1_Missense_Mutation_p.L786I|CHD2_uc010bog.1_Missense_Mutation_p.L31I|CHD2_uc010boh.1_Intron	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	786					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCTTCAGTCCCTCATAAGGAG	0.338000														56			6		0.000157383	0.000744989	0.000157383	1	0
CDHR2	54825	broad.mit.edu	37	5	176016373	176016373	+	Silent	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:176016373A>G	uc021yie.1	+	22	3325	c.3051A>G	c.(3049-3051)caA>caG	p.Q1017Q	CDHR2_uc003mem.2_Silent_p.Q1017Q|CDHR2_uc003men.1_Silent_p.Q1017Q	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1017	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCACCTACCAAGTGACAGTCC	0.632000														110			14		0	0	0.000958276	0	0
DDX28	55794	broad.mit.edu	37	16	68055780	68055780	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:68055780G>A	uc002evh.2	-	0	1991	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	DUS2L_uc002evi.3_5'Flank|DUS2L_uc002evj.3_5'Flank|DUS2L_uc010vkk.2_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 (DDX28), nuclear gene encoding mitochondrial protein, mRNA.	442	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TCTTCTGGAAGGACTGGAAGA	0.517000														40			18		0	0	0.00229938	0	0
CYP2C19	1557	broad.mit.edu	37	10	96580354	96580354	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96580354A>C	uc010qnz.2	+	5	921	c.921A>C	c.(919-921)agA>agC	p.R307S	CYP2C19_uc010qny.2_Missense_Mutation_p.R285S	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	307					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAACCCTGAGATATGCTCTCC	0.443000														97			22		0	0	0.000586117	0	0
CDH23	64072	broad.mit.edu	37	10	73553238	73553238	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:73553238G>A	uc001jrx.4	+	45	6934	c.6544G>A	c.(6544-6546)Gag>Aag	p.E2182K	CDH23_uc001jsg.4_5'Flank|CDH23_uc001jsh.4_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2185	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GAGCGTGCTGGAGTCGGCTGA	0.557000														52			12		0	0	0.000219431	0	0
GON4L	54856	broad.mit.edu	37	1	155723072	155723073	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:155723072_155723073GG>AA	uc001flz.2	-	28	5861_5862	c.5764_5765CC>TT	c.(5764-5766)cca>TTa	p.P1922L	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.P1922L|GON4L_uc009wrh.1_Missense_Mutation_p.P1922L|GON4L_uc001fma.1_Missense_Mutation_p.P1922L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1922					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGCTCCTCTGGGGCTTCCTCT	0.604000														59			20		0	0	6.4e-05	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926695	157926695	+	Silent	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:157926695G>T	uc003wno.3	-	8	1351	c.1230C>A	c.(1228-1230)ctC>ctA	p.L410L	PTPRN2_uc003wnp.3_Silent_p.L393L|PTPRN2_uc003wnq.3_Silent_p.L410L|PTPRN2_uc003wnr.3_Silent_p.L372L|PTPRN2_uc011kwa.2_Silent_p.L433L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	410						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R409G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCCAGGTAAGAGTCGAGACC	0.602000														65			8		1.26484e-09	6.02297e-09	0.000157383	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232575022	232575022	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:232575022G>A	uc001hvg.3	-	12	4021	c.3863C>T	c.(3862-3864)tCc>tTc	p.S1288F	SIPA1L2_uc001hvf.3_Missense_Mutation_p.S362F	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1288				S -> P (in Ref. 2; BAB14273).	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTGGATCAGGGACCTGCTGCC	0.647000														65			8		0	0	0.000274275	0	0
OLAH	55301	broad.mit.edu	37	10	15107691	15107691	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:15107691G>A	uc001int.2	+	6	924	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.E171K	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	171					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.K223E(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGAAGCCAAGGAATTTGTGAA	0.388000														32			18		0	0	0.00121646	0	0
NOC2L	26155	broad.mit.edu	37	1	892520	892521	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:892520_892521CC>TT	uc009vjq.3	-	2	371_372	c.312_313GG>AA	c.(310-315)gaggag>gaAAag	p.E105K	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Missense_Mutation_p.E105K	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	105	Poly-Glu.					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCCTCTTCCTCCTCAGAGCTGT	0.584000														178			50		0	0	6.4e-05	0	0
HSPG2	3339	broad.mit.edu	37	1	22155968	22155968	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:22155968A>T	uc009vqd.3	-	86	11943	c.11903T>A	c.(11902-11904)cTg>cAg	p.L3968Q	HSPG2_uc001bfi.3_5'UTR|HSPG2_uc001bfj.3_Missense_Mutation_p.L3967Q	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3967	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCGCTGAACAGCAGGACCCC	0.657000														41			14		0	0	0.000422831	0	0
DOK3	79930	broad.mit.edu	37	5	176931822	176931822	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:176931822G>A	uc003mhk.3	-	4	740	c.735C>T	c.(733-735)atC>atT	p.I245I	DOK3_uc003mhh.4_Silent_p.I75I|DOK3_uc003mhi.4_Silent_p.I189I|DOK3_uc003mhj.4_Silent_p.I87I	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	245	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCCTCAGCTGGATGGCGTCTG	0.682000														39			12		0	0	0.00136819	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841656	4841656	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4841656G>A	uc002fzo.2	-	4	872	c.615C>T	c.(613-615)tcC>tcT	p.S205S	SLC25A11_uc002fzp.2_Silent_p.S201S|SLC25A11_uc021tod.1_Silent_p.S194S|SLC25A11_uc021toe.1_Silent_p.S154S|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	205					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AGAACTGCTTGGATTGGGAGT	0.627000														43			34		0	0	0.00195071	0	0
SEMA5A	9037	broad.mit.edu	37	5	9202111	9202111	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:9202111G>A	uc003jek.2	-	8	1600	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	296	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTCAGGCAGGAAGAAAGTAC	0.448000														28			7		0	0	0.00198382	0	0
SFI1	9814	broad.mit.edu	37	22	31998226	31998226	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:31998226C>T	uc003ale.3	+	15	1966	c.1573C>T	c.(1573-1575)Ctc>Ttc	p.L525F	SFI1_uc003ald.1_Missense_Mutation_p.L501F|SFI1_uc003alf.3_Missense_Mutation_p.L494F|SFI1_uc003alg.3_Missense_Mutation_p.L443F|SFI1_uc011alp.2_Missense_Mutation_p.L443F|SFI1_uc011alq.2_Missense_Mutation_p.L470F|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	525					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGTATTTTCTCTCTGGAGGCA	0.418000														235			62		0	0	0.000781405	0	0
ATP8B1	5205	broad.mit.edu	37	18	55355657	55355657	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:55355657T>C	uc002lgw.3	-	12	1423	c.1303A>G	c.(1303-1305)Aaa>Gaa	p.K435E	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	435					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A434S(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTTCTAGCTTTTGCGGGTGTG	0.443000														69			37		0	0	0.00195071	0	0
GATA1	2623	broad.mit.edu	37	X	48650317	48650317	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:48650317G>A	uc004dkq.4	+	2	378	c.287G>A	c.(286-288)tGg>tAg	p.W96*		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	96					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V77_A120>A(2)|p.?(2)|p.V74_C199del(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TATGCCGGCTGGGCCTACGGC	0.602000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome									9			6		0	0	0.00116845	0	0
PPEF2	5470	broad.mit.edu	37	4	76812837	76812837	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:76812837G>A	uc003hix.3	-	3	562	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.L69F	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	69					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATCCATGAGATAGCTGAAG	0.507000														191			43		0	0	0.000781405	0	0
MLL2	8085	broad.mit.edu	37	12	49436573	49436573	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:49436573G>A	uc001rta.4	-	25	5733	c.5733C>T	c.(5731-5733)acC>acT	p.T1911T		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1911					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTAGGCCAGGGGTTCCACAAC	0.542000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				58			41		0	0	0.00195071	0	0
OR56B4	196335	broad.mit.edu	37	11	6129845	6129845	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:6129845C>T	uc010qzx.2	+	0	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCTGTGTTCCTTAATGTGC	0.512000														66			18		0	0	0.000566183	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872434	18872434	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:18872434G>A	uc021qvx.1	-	4	691	c.500C>T	c.(499-501)tCa>tTa	p.S167L	PLCZ1_uc001rdv.4_Missense_Mutation_p.S63L|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	167	PI-PLC X-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)					ATGTGAAGATGAAATAAAATA	0.269000														25			15		0	0	0.000308642	0	0
PTPN4	5775	broad.mit.edu	37	2	120620206	120620206	+	Missense_Mutation	SNP	C	T	T	rs145726868	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:120620206C>T	uc002tmf.1	+	2	1004	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	78	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GCTGATGATTCCACAGATAAC	0.373000														46			12		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179439680	179439680	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179439680G>A	uc021vsy.1	-	274	63700	c.63475C>T	c.(63475-63477)Cca>Tca	p.P21159S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P14854S|TTN_uc021vta.1_Missense_Mutation_p.P14787S|TTN_uc021vtb.1_Missense_Mutation_p.P14662S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22086	Fibronectin type-III 53.						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)			GGTGGCCCTGGGATATCATGG	0.448000														12			5		0	0	0.00116845	0	0
TEX2	55852	broad.mit.edu	37	17	62291174	62291174	+	Missense_Mutation	SNP	G	A	A	rs76631276		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:62291174G>A	uc002jed.3	-	1	555	c.404C>T	c.(403-405)tCc>tTc	p.S135F	TEX2_uc002jec.3_Missense_Mutation_p.S135F|TEX2_uc002jee.3_Missense_Mutation_p.S135F	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	135					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGACCCTGGGGACACAGCCAA	0.542000														74			30		0	0	0.000814825	0	0
SNAPC4	6621	broad.mit.edu	37	9	139276502	139276502	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:139276502G>A	uc004chh.3	-	16	2100	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	697					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGTGGGCAGGGGTGGCTGCC	0.682000														8			7		0	0	0.000274275	0	0
CLIP2	7461	broad.mit.edu	37	7	73803525	73803525	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:73803525C>T	uc003uam.3	+	12	2983	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	CLIP2_uc003uan.3_Missense_Mutation_p.R851W	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	886						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GACCGTGTCCCGGAAGACCCA	0.672000														28			8		0	0	0.000157383	0	0
CAPN5	726	broad.mit.edu	37	11	76823641	76823641	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:76823641C>T	uc009yup.3	+	4	609	c.424C>T	c.(424-426)Cca>Tca	p.P142S	CAPN5_uc001oxx.3_Missense_Mutation_p.P102S|CAPN5_uc009yuq.3_Missense_Mutation_p.P138S|CAPN5_uc001oxy.3_Missense_Mutation_p.P142S	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	102	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCAGGTCATCCCAGACTGGAA	0.617000														46			14		0	0	0.000958276	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445953	32445953	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:32445953G>A	uc003amc.3	+	1	409	c.159G>A	c.(157-159)ggG>ggA	p.G53G		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	53					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.G53W(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CCAATCGTGGGACTGTTGGAG	0.468000														226			96		0	0	0.000781405	0	0
CMTM5	116173	broad.mit.edu	37	14	23848245	23848245	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23848245C>T	uc010akm.3	+	3	930	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CMTM5_uc010akn.3_Silent_p.F57F|CMTM5_uc001wju.3_Silent_p.F44F|CMTM5_uc010ako.3_Intron|CMTM5_uc001wjs.3_Silent_p.F95F|CMTM5_uc001wjt.3_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 5 (CMTM5), transcript variant 1, mRNA.	162	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCCAGGACTTCCTGCGCTGTG	0.607000														25			5		0	0	0.000602214	0	0
MYBPH	4608	broad.mit.edu	37	1	203140699	203140699	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:203140699G>A	uc001gzh.1	-	4	664	c.605C>T	c.(604-606)cCt>cTt	p.P202L		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	202	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CTGAGGCTTAGGCTTCCCCTG	0.642000														16			6		0	0	0.000157383	0	0
RIN2	54453	broad.mit.edu	37	20	19981499	19981499	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:19981499C>T	uc002wro.2	+	11	2903	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	RIN2_uc010gcu.2_Silent_p.F436F|RIN2_uc010gcv.2_Silent_p.F663F	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	869					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCCACATCTTCCACTTTGTCT	0.522000														46			10		0	0	0.000673444	0	0
YSK4	80122	broad.mit.edu	37	2	135745789	135745789	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:135745789C>T	uc002tue.1	-	6	684	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.R105Q|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.R235Q	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	218							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GACACCAGATCGCGTGGGCAA	0.403000														212			51		0	0	0.000781405	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990026	56990026	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:56990026G>A	uc001cyj.2	-	2	1066	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	166					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TGATCTGGCTGAAATCAGGGT	0.527000														91			41		0	0	0.000680045	0	0
MRPL44	65080	broad.mit.edu	37	2	224828523	224828523	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:224828523G>A	uc002vnr.4	+	2	768	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	233					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGATGTGGAAGATAATAAATC	0.348000														72			24		0	0	0.001512	0	0
NRCAM	4897	broad.mit.edu	37	7	107820675	107820675	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:107820675G>A	uc022aka.1	-	21	2949	c.2843C>T	c.(2842-2844)cCa>cTa	p.P948L	NRCAM_uc011kmk.2_Missense_Mutation_p.P948L|NRCAM_uc003vfd.3_Missense_Mutation_p.P929L|NRCAM_uc003vfe.3_Missense_Mutation_p.P929L|NRCAM_uc003vfc.3_Missense_Mutation_p.P932L	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	948					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACCTCCTTCTGGAGTATTAAA	0.507000														48			10		0	0	0.00136819	0	0
HSPG2	3339	broad.mit.edu	37	1	22170655	22170655	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:22170655G>A	uc009vqd.3	-	64	8645	c.8605C>T	c.(8605-8607)Cct>Tct	p.P2869S	HSPG2_uc001bfj.3_Missense_Mutation_p.P2868S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2868	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCGGGCAGGGAGGTTTCCT	0.632000														82			24		0	0	0.000720815	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530902	140530902	+	Missense_Mutation	SNP	C	T	T	rs139534856		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140530902C>T	uc003lir.3	+	0	1064	c.1064C>T	c.(1063-1065)cCa>cTa	p.P355L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	355	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCTCATCCCAGAAAACTTA	0.468000														57			15		0	0	0.000308642	0	0
ROS1	6098	broad.mit.edu	37	6	117681170	117681170	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:117681170G>A	uc003pxp.1	-	22	3649	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1150					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E1149K(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAAATGGGTTGATTTCTGAAA	0.343000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									20			8		0	0	0.000442599	0	0
SLC12A3	6559	broad.mit.edu	37	16	56928523	56928523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:56928523C>T	uc002ekd.4	+	21	2658	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	SLC12A3_uc010ccm.3_Nonsense_Mutation_p.Q868*|SLC12A3_uc010ccn.3_Nonsense_Mutation_p.Q876*	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	868					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGTAGGCGGCCAGATTAACAG	0.587000														28			18		0	0	0.000375601	0	0
GCOM1	145781	broad.mit.edu	37	15	57910262	57910262	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:57910262G>A	uc002aei.3	+	2	325	c.194G>A	c.(193-195)aGg>aAg	p.R65K	GCOM1_uc002aej.3_Missense_Mutation_p.R65K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.R65K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R65K	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	65					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GAACCTACCAGGAAACTTCCT	0.423000														48			9		0	0	0.000673444	0	0
BDKRB2	624	broad.mit.edu	37	14	96707018	96707018	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:96707018C>T	uc010avm.1	+	2	549	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.S91F|BDKRB2_uc001yfg.2_Missense_Mutation_p.S118F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	118					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ATCACCATCTCCAACAACTTC	0.587000														131			34		0	0	0.00111076	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219149	134219149	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:134219149C>T	uc001lll.4	+	1	1174	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	PWWP2B_uc009ybe.3_Missense_Mutation_p.S382F	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	382										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GACTTGTCTTCTGGAAGTTCG	0.677000														79			13		0	0	0.000566183	0	0
TNR	7143	broad.mit.edu	37	1	175365882	175365882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:175365882C>T	uc001gkp.1	-	2	1119	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*	TNR_uc009wwu.1_Nonsense_Mutation_p.W346*|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	346	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGGCCCGTCCCATTCCAGCT	0.607000														73			28		0	0	0.0024448	0	0
SEPT5	5413	broad.mit.edu	37	22	19707891	19707891	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:19707891C>T	uc002zpv.2	+	5	536	c.411C>T	c.(409-411)ttC>ttT	p.F137F	SEPT5_uc002zpw.1_Silent_p.F146F|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	137					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGCAGTACTTCCGTGATGAGA	0.597000														46			21		0	0	0.00121646	0	0
ARPP21	10777	broad.mit.edu	37	3	35730874	35730874	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:35730874C>T	uc011axy.2	+	5	694	c.482C>T	c.(481-483)tCc>tTc	p.S161F	ARPP21_uc003cga.3_Missense_Mutation_p.S161F|ARPP21_uc003cgb.3_Missense_Mutation_p.S161F|ARPP21_uc003cgf.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	161						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAGAATAATTCCAGGTAAATT	0.328000														7			3		0	0	6.4e-05	0	0
SV2C	22987	broad.mit.edu	37	5	75596726	75596726	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:75596726G>A	uc003kei.1	+	10	1943	c.1809G>A	c.(1807-1809)ctG>ctA	p.L603L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	603					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTGCTCTGCTGATGGACAGAA	0.453000														65			18		0	0	0.00229938	0	0
BDH1	622	broad.mit.edu	37	3	197238901	197238901	+	Silent	SNP	G	A	A	rs116643903	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:197238901G>A	uc003fxr.3	-	7	1299	c.897C>T	c.(895-897)atC>atT	p.I299I	BDH1_uc003fxs.3_Silent_p.I299I|BDH1_uc003fxu.3_Silent_p.I299I	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	299					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TGACAGCATCGATGACAGGGG	0.572000														126			67		0	0	0.000781405	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58079646	58079646	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:58079646A>T	uc002iyf.2	-	3	300	c.65T>A	c.(64-66)aTt>aAt	p.I22N						Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		ATCCAAAATAATGACTCTGAA	0.318000														78			50		0	0	0.000781405	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421649	50421649	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:50421649G>A	uc003daq.3	-	5	668	c.630C>T	c.(628-630)atC>atT	p.I210I	CACNA2D2_uc003dap.3_Silent_p.I210I	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	210					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGTCCGTAGGGATCTGTACAG	0.562000														214			69		0	0	0.000781405	0	0
TNNI2	7136	broad.mit.edu	37	11	1862390	1862390	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:1862390G>A	uc021qbv.1	+	5	428	c.406G>A	c.(406-408)Gac>Aac	p.D136N	TNNI2_uc021qbt.1_Missense_Mutation_p.D115N|TNNI2_uc021qbu.1_Missense_Mutation_p.D115N|TNNI2_uc010qxe.1_Missense_Mutation_p.D136N	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	136					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGTGTGCATGGACCTGAGGGC	0.652000														41			14		0	0	0.000308642	0	0
ODZ3	55714	broad.mit.edu	37	4	183522226	183522226	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:183522226G>A	uc003ivd.1	+	2	736	c.661G>A	c.(661-663)Gct>Act	p.A221T	ODZ3_uc021xux.1_Missense_Mutation_p.A128T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	221	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCCGCCGGCTGCTTTGCCCGC	0.552000														120			27		0	0	0.000878237	0	0
NPHP1	4867	broad.mit.edu	37	2	110919263	110919263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:110919263G>A	uc002tfn.4	-	9	1130	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	NPHP1_uc002tfm.4_Nonsense_Mutation_p.R291*|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R347*|NPHP1_uc002tfo.4_Nonsense_Mutation_p.R228*|NPHP1_uc010ywx.2_Nonsense_Mutation_p.R290*|NPHP1_uc010fjv.1_Nonsense_Mutation_p.R290*	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	346					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TAATTTGCTCGAAATTGATTC	0.353000														32			9		0	0	0.000442599	0	0
ZNF148	7707	broad.mit.edu	37	3	124951657	124951657	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:124951657G>A	uc003ehx.4	-	8	2399	c.1913C>T	c.(1912-1914)cCa>cTa	p.P638L	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.P638L|ZNF148_uc010hsa.3_Missense_Mutation_p.P638L|ZNF148_uc003eia.4_Missense_Mutation_p.P638L|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	638					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGGCTGATTTGGGAGGGTCTG	0.453000														122			22		0	0	0.000586117	0	0
NDRG2	57447	broad.mit.edu	37	14	21487861	21487861	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21487861C>T	uc001vyy.3	-	10	803	c.653G>A	c.(652-654)aGa>aAa	p.R218K	NDRG2_uc010tll.2_Missense_Mutation_p.R214K|NDRG2_uc001vyt.3_Missense_Mutation_p.R131K|NDRG2_uc001vyu.3_Missense_Mutation_p.R175K|NDRG2_uc001vyv.3_Missense_Mutation_p.R204K|NDRG2_uc001vyw.3_Missense_Mutation_p.R204K|NDRG2_uc001vzb.3_Missense_Mutation_p.R158K|NDRG2_uc001vyx.3_Missense_Mutation_p.R218K|NDRG2_uc001vza.3_Missense_Mutation_p.R204K|NDRG2_uc001vyz.3_Missense_Mutation_p.R204K|NDRG2_uc001vzc.3_Missense_Mutation_p.R204K|NDRG2_uc010aig.3_Missense_Mutation_p.R218K|NDRG2_uc001vze.3_Missense_Mutation_p.R218K|NDRG2_uc001vzd.3_Missense_Mutation_p.R218K|NDRG2_uc001vzg.3_Missense_Mutation_p.R204K|NDRG2_uc001vzf.3_Missense_Mutation_p.R204K	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	218					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AATGATATTTCTGTACTTTTG	0.403000														31			6		0	0	0.00198382	0	0
OR2A5	393046	broad.mit.edu	37	7	143747855	143747855	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143747855G>A	uc011ktw.2	+	0	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GATGTCCTACGATCGGTACAT	0.468000														104			42		0	0	0.00195071	0	0
KCNT2	343450	broad.mit.edu	37	1	196309636	196309636	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:196309636G>C	uc001gtd.1	-	15	1678	c.1618C>G	c.(1618-1620)Cct>Gct	p.P540A	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.P490A|KCNT2_uc001gtf.1_Missense_Mutation_p.P540A|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.P540A|KCNT2_uc001gth.1_Missense_Mutation_p.P61A	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	540	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTATCGAGGACCTGGATTC	0.318000														55			4		0	0	0.00116845	0	0
WDR16	146845	broad.mit.edu	37	17	9515626	9515626	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:9515626G>A	uc010coc.3	+	9	1114	c.885_splice	c.e9-1	p.K295_splice	WDR16_uc002gly.3_Splice_Site_p.K285_splice|WDR16_uc002glz.3_Splice_Site_p.K217_splice			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	285						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCCCTAAAGGAAGATTCAGT	0.413000														51			30		0	0	0.00111076	0	0
EDA2R	60401	broad.mit.edu	37	X	65819657	65819657	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:65819657G>A	uc004dwt.2	-	5	636	c.626C>T	c.(625-627)tCt>tTt	p.S209F	EDA2R_uc004dwr.3_Missense_Mutation_p.S188F|EDA2R_uc004dws.3_Missense_Mutation_p.S188F|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Missense_Mutation_p.S64F|EDA2R_uc004dwq.3_Missense_Mutation_p.S188F|EDA2R_uc022byh.1_Missense_Mutation_p.S190F	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN	Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.	188					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GGGGAAGAGAGATTCCTCCTT	0.532000														6			5		0	0	0.00116845	0	0
FAT3	120114	broad.mit.edu	37	11	92577351	92577351	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92577351C>T	uc001pdj.4	+	17	10835	c.10818C>T	c.(10816-10818)atC>atT	p.I3606I	FAT3_uc001pdi.4_Silent_p.I46I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3606	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				GGAAAATCATCGCCCTGGGAG	0.488000										TCGA Ovarian(4;0.039)				259			178		0	0	0.000781405	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543266	133543266	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:133543266C>T	uc002ttp.3	-	13	1492	c.1118G>A	c.(1117-1119)aGg>aAg	p.R373K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	373	Ser-rich.						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						AATACTTAGCCTTTTATCCCA	0.378000														26			14		0	0	0.000422831	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516557	140516557	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140516557C>T	uc003liq.3	+	0	1758	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCTGTTTGCCCTCAGGTCG	0.697000														89			23		0	0	0.000878237	0	0
SCAMP2	10066	broad.mit.edu	37	15	75143752	75143753	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:75143752_75143753GG>AA	uc002azb.1	-	4	487_488	c.413_414CC>TT	c.(412-414)tcc>tTT	p.S138F	SCAMP2_uc002aza.1_5'UTR	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	138					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GGATCTCTGTGGAGAAATCCTG	0.554000														60			11		0	0	6.4e-05	0	0
INO80	54617	broad.mit.edu	37	15	41373247	41373247	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:41373247G>A	uc001zni.3	-	7	1111	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	300	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AACAGGTTACGAGCTGAAGCT	0.308000														181			37		0	0	0.00195071	0	0
KCNK10	54207	broad.mit.edu	37	14	88729771	88729771	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:88729771C>T	uc001xwm.3	-	1	299	c.177G>A	c.(175-177)agG>agA	p.R59R	KCNK10_uc001xwn.3_Silent_p.R59R|KCNK10_uc001xwo.3_Silent_p.R54R	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	54					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGCCTTCCATCCTGGCTACCA	0.622000														88			27		0	0	0.00178596	0	0
SMG5	23381	broad.mit.edu	37	1	156228802	156228802	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156228802G>A	uc001foc.4	-	15	2585	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	812					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCACCATTCGGAACTGTGCCT	0.607000														30			11		0	0	0.000219431	0	0
DDI2	84301	broad.mit.edu	37	1	15978366	15978366	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:15978366C>T	uc001awx.2	+	7	1372	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	387					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCAGAAGCCCTTCAAAAATC	0.512000														51			21		0	0	0.000586117	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156375	70156375	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:70156375C>T	uc003hej.3	+	4	1158	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	386					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGCAATCTACCATGGGATCCC	0.428000														36			9		0	0	0.000978159	0	0
TRHDE	29953	broad.mit.edu	37	12	72969126	72969126	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:72969126G>A	uc001sxa.3	+	10	2118	c.2088G>A	c.(2086-2088)agG>agA	p.R696R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	696					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGACCTAAGGAACTGGAGAT	0.363000														28			12		0	0	0.00185496	0	0
TUSC3	7991	broad.mit.edu	37	8	15517052	15517052	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:15517052C>T	uc003wwt.3	+	3	807	c.463C>T	c.(463-465)Cct>Tct	p.P155S	TUSC3_uc003wwu.3_Missense_Mutation_p.P155S	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	155					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CATGCATTTTCCTCCAAAAGG	0.368000														38			16		0	0	0.000422831	0	0
SCGB2A1	4246	broad.mit.edu	37	11	61977904	61977904	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61977904G>A	uc001nta.2	+	1	139	c.75G>A	c.(73-75)ctG>ctA	p.L25L		NM_002407	NP_002398	O75556	SG2A1_HUMAN	Homo sapiens secretoglobin, family 2A, member 1 (SCGB2A1), mRNA.	25						extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GCAAACTCCTGGAGGACATGG	0.393000														68			36		0	0	0.000814825	0	0
DSG3	1830	broad.mit.edu	37	18	29039878	29039878	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:29039878C>T	uc002kws.3	+	5	697	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	196	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAATTGCCTTCAAAATTGTCT	0.428000														25			13		0	0	0.00185496	0	0
UNC13A	23025	broad.mit.edu	37	19	17785506	17785506	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17785506C>T	uc021uqk.1	-	2	154	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	38	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTGCCCCGCACCGCGATGGTC	0.602000														72			21		0	0	0.00127121	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182873548	182873548	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:182873548C>T	uc001gpu.3	-	7	1639	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	SHCBP1L_uc001gpv.3_Missense_Mutation_p.E333K|SHCBP1L_uc010pnz.2_Missense_Mutation_p.E310K|SHCBP1L_uc001gpw.3_Missense_Mutation_p.E172K	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	524										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATCATAATTTCCTCTCTCTTT	0.363000														49			5		0	0	0.00116845	0	0
RBM24	221662	broad.mit.edu	37	6	17284914	17284914	+	Missense_Mutation	SNP	C	T	T	rs143113042		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:17284914C>T	uc003nbz.4	+	2	323	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	RBM24_uc003nby.4_Missense_Mutation_p.H107Y|RBM24_uc011dix.2_Missense_Mutation_p.H49Y|RBM24_uc003nca.3_Missense_Mutation_p.H62Y	NM_001143942	NP_001137413	Q9BX46	RBM24_HUMAN	Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA.	107					cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			TCAACAACTTCATCCAGCCCT	0.333000														165			75		0	0	0.000781405	0	0
MYOT	9499	broad.mit.edu	37	5	137206604	137206604	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:137206604C>T	uc011cye.2	+	1	281	c.264C>T	c.(262-264)acC>acT	p.T88T	MYOT_uc003lbv.3_Silent_p.T88T|MYOT_uc011cyg.2_Intron|MYOT_uc011cyh.2_5'UTR	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	88	Necessary for interaction with ACTN1.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTACAACCACCTATAACCAGT	0.507000														21			5		0	0	0.000602214	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909608	182909608	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:182909608G>A	uc001gpu.3	-	2	911	c.626C>T	c.(625-627)tCt>tTt	p.S209F	SHCBP1L_uc001gpv.3_Missense_Mutation_p.S90F|SHCBP1L_uc010pnz.2_Missense_Mutation_p.S67F|SHCBP1L_uc001gpw.3_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	281										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AATGTTGGAAGAAAAGGGCTC	0.383000														81			10		0	0	0.000673444	0	0
CUZD1	50624	broad.mit.edu	37	10	124596429	124596429	+	Silent	SNP	G	A	A	rs138928505		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124596429G>A	uc001lgs.3	-	6	1686	c.735C>T	c.(733-735)gtC>gtT	p.V245V	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_Intron|CUZD1_uc009yae.3_Intron|CUZD1_uc010qtz.2_Silent_p.V245V	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	245	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TAGACAACACGACAGTCAGAG	0.448000														59			10		0	0	0.000978159	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391164	23391164	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:23391164G>A	uc003swg.3	-	5	709	c.443C>T	c.(442-444)aCc>aTc	p.T148I		NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	148	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TACTTTCAAGGTGAAATTCTC	0.512000														54			11		0	0	0.000219431	0	0
DMXL2	23312	broad.mit.edu	37	15	51773152	51773152	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:51773152G>A	uc010ufy.2	-	23	6376	c.6151C>T	c.(6151-6153)Ctt>Ttt	p.L2051F	DMXL2_uc002abd.3_Missense_Mutation_p.L121F|DMXL2_uc002abf.3_Missense_Mutation_p.L2051F|DMXL2_uc010bfa.3_Missense_Mutation_p.L1415F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2051						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCAGTCATAAGGATCTTTAAA	0.363000														96			13		0	0	0.00185496	0	0
SDHC	6391	broad.mit.edu	37	1	161298251	161298251	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:161298251C>T	uc001gag.3	+	2	173	c.143C>T	c.(142-144)tCa>tTa	p.S48L	SDHC_uc001gah.3_Intron|SDHC_uc001gai.3_Missense_Mutation_p.S48L|SDHC_uc001gaj.3_Intron|SDHC_uc001gak.3_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	48					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	AATATAGGTTCAAACCGTCCT	0.428000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome					102			14		0	0	0.000422831	0	0
TACR1	6869	broad.mit.edu	37	2	75425696	75425696	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:75425696G>A	uc002sng.2	-	0	950	c.365C>T	c.(364-366)tCc>tTc	p.S122F	TACR1_uc002snh.3_Missense_Mutation_p.S122F	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	122					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AGCCGTCATGGAGTAGATACT	0.502000														75			28		0	0	0.001512	0	0
DAPK2	23604	broad.mit.edu	37	15	64218259	64218259	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:64218259C>T	uc002amr.3	-	7	724	c.693G>A	c.(691-693)acG>acA	p.T231T	DAPK2_uc010uim.2_Non-coding_Transcript	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	231	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TTTCCTGCTTCGTGTCTCCCA	0.488000														59			8		0	0	0.000157383	0	0
ZAN	7455	broad.mit.edu	37	7	100350119	100350119	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100350119C>T	uc003uwj.3	+	13	2556	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	ZAN_uc003uwk.3_Silent_p.S797S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	797	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCATCTCCACAGAAGAGC	0.522000														48			7		0	0	0.000157383	0	0
TUBB7P	56604	broad.mit.edu	37	4	190904370	190904370	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:190904370C>T	uc011clg.2	-	3	615	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	205					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										TATAGCGCTTCGTTATCTATG	0.537000														54			8		0	0	0.00136819	0	0
GABRA6	2559	broad.mit.edu	37	5	161128565	161128565	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:161128565C>T	uc003lyu.2	+	8	1486	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	GABRA6_uc003lyv.2_Missense_Mutation_p.S154L	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	383					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAATAGTTTCATCTTCCGAG	0.448000										TCGA Ovarian(5;0.080)				72			11		0	0	0.000978159	0	0
ESR2	2100	broad.mit.edu	37	14	64735585	64735585	+	Missense_Mutation	SNP	C	T	T	rs145278854		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:64735585C>T	uc001xha.1	-	3	1048	c.580G>A	c.(580-582)Gat>Aat	p.D194N	ESR2_uc001xgy.2_Missense_Mutation_p.D194N|ESR2_uc001xgu.3_Missense_Mutation_p.D194N|ESR2_uc001xgv.3_Missense_Mutation_p.D194N|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.D194N|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.D194N|ESR2_uc001xgz.2_Missense_Mutation_p.D194N	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	194					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CGGTTTTTATCGATTGTACAC	0.423000														98			26		0	0	0.00106085	0	0
ADAM7	8756	broad.mit.edu	37	8	24349524	24349524	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:24349524G>A	uc003xeb.3	+	13	1578	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	ADAM7_uc003xec.3_Missense_Mutation_p.G261R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	489	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGGGTCAATGGATTTCCTTG	0.483000														70			35		0	0	0.00195071	0	0
MCTP1	79772	broad.mit.edu	37	5	94275843	94275843	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:94275843C>T	uc003kkx.2	-	4	1118	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	MCTP1_uc003kkv.2_Missense_Mutation_p.G152E|MCTP1_uc003kkw.2_Missense_Mutation_p.G152E|MCTP1_uc003kkz.2_Missense_Mutation_p.G34E	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	373					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CAAAATGATTCCAAGATCATG	0.413000														38			6		0	0	0.000157383	0	0
EXPH5	23086	broad.mit.edu	37	11	108385124	108385124	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:108385124G>A	uc001pkk.3	-	5	1221	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S	EXPH5_uc010rvz.2_Silent_p.S214S|EXPH5_uc010rvy.2_Silent_p.S182S	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	370					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCATATGATGGATGATAAAG	0.468000														103			44		0	0	0.000589545	0	0
NCEH1	57552	broad.mit.edu	37	3	172365750	172365750	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:172365750G>A	uc011bpx.2	-	1	527	c.389C>T	c.(388-390)cCt>cTt	p.P130L	NCEH1_uc003fig.3_Missense_Mutation_p.P130L|NCEH1_uc011bpw.2_5'UTR|NCEH1_uc011bpy.2_Intron	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	98					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GGGCTTCGGAGGGCCTTCAAA	0.527000														54			7		0	0	0.00198382	0	0
TPO	7173	broad.mit.edu	37	2	1507821	1507821	+	Missense_Mutation	SNP	G	A	A	rs145974595		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:1507821G>A	uc002qwr.3	+	13	2574	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.E830K|TPO_uc002qwx.3_Missense_Mutation_p.E773K|TPO_uc002qwu.3_Missense_Mutation_p.E773K|TPO_uc010yio.2_Missense_Mutation_p.E657K|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	830	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGACCCCTACGAGTTAGGAGA	0.562000														62			11		0	0	0.000673444	0	0
TEKT2	27285	broad.mit.edu	37	1	36552870	36552870	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:36552870G>A	uc001bzr.3	+	6	940	c.813G>A	c.(811-813)gaG>gaA	p.E271E	TEKT2_uc001bzs.3_Silent_p.E177E|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	271					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTGCGGGAGATGGAGAAAG	0.557000														63			13		0	0	0.000219431	0	0
D21847	0	broad.mit.edu	37	14	22090574	22090574	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:22090574C>T	uc001wbi.2	+	1	226	c.213C>T	c.(211-213)ccC>ccT	p.P71P						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		GCGGAGCACCCACATTTCTTT	0.478000														108			14		0	0	0.000422831	0	0
TRIML2	205860	broad.mit.edu	37	4	189012810	189012810	+	Missense_Mutation	SNP	G	A	A	rs141991055	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:189012810G>A	uc011cle.1	-	7	1328	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	TRIML2_uc003izj.1_Missense_Mutation_p.S122L|TRIML2_uc003izk.1_Missense_Mutation_p.S102L|TRIML2_uc003izl.2_Missense_Mutation_p.S294L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	294	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCCCATCACCGACCCCGTGAG	0.572000														127			36		0	0	0.00128727	0	0
GMPR2	51292	broad.mit.edu	37	14	24707806	24707806	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24707806G>A	uc001wnr.3	+	9	1251	c.869G>A	c.(868-870)gGa>gAa	p.G290E	GMPR2_uc001wnu.2_Missense_Mutation_p.G315E|GMPR2_uc001wns.3_Missense_Mutation_p.G290E|GMPR2_uc001wnv.3_Missense_Mutation_p.G127E|GMPR2_uc010alk.1_Missense_Mutation_p.G351E|GMPR2_uc001wnw.3_Missense_Mutation_p.G290E|GMPR2_uc001wnx.3_Missense_Mutation_p.G308E|GMPR2_uc010all.3_Missense_Mutation_p.G262E|GMPR2_uc010toe.1_Missense_Mutation_p.G351E	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN	Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.	290					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GCCTCAGAGGGAAAGACAGTG	0.473000														50			15		0	0	0.000566183	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398684	47398684	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47398684G>A	uc001cqp.4	-	9	1309	c.1258C>T	c.(1258-1260)Cac>Tac	p.H420Y	CYP4A11_uc001cqq.2_Missense_Mutation_p.H420Y	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	420					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)	TTTGGGTTGTGGTGAAGGCCA	0.517000														209			105		0	0	0.000781405	0	0
SMYD1	150572	broad.mit.edu	37	2	88405880	88405880	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:88405880G>A	uc002ssr.3	+	7	1103	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.E36K	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGAGAAGCAGGAGCCAGTGTT	0.522000														63			14		0	0	0.000422831	0	0
SCTR	6344	broad.mit.edu	37	2	120236455	120236455	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:120236455G>A	uc002tma.3	-	2	459	c.233C>T	c.(232-234)tCt>tTt	p.S78F	SCTR_uc002tlz.3_5'UTR	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	78					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)	CGGCACAGAAGAGGGCCAGCA	0.607000														64			7		0	0	0.000157383	0	0
PRR23B	389151	broad.mit.edu	37	3	138739176	138739176	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:138739176C>T	uc003esy.1	-	0	593	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	110										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						CCTGAGCGTTCGTCGACGGAG	0.642000														74			13		0	0	0.000422831	0	0
PCDH7	5099	broad.mit.edu	37	4	31144234	31144234	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:31144234C>T	uc021xnd.1	+	2	4539	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	PCDH7_uc011bxx.2_Silent_p.F1169F	NM_001173523	NP_001166994	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant d, mRNA.	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGTCCACTTTCATGCCTGTTG	0.547000														65			15		0	0	0.00074312	0	0
KIAA0664	23277	broad.mit.edu	37	17	2601573	2601573	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:2601573G>A	uc002fuy.1	-	9	1550	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	KIAA0664_uc002fux.1_Silent_p.I420I	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	488							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGATGCCGGGGATGATGGACT	0.667000														14			8		0	0	0.000673444	0	0
CNDP2	55748	broad.mit.edu	37	18	72183516	72183516	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:72183516C>T	uc002llm.2	+	8	1216	c.957C>T	c.(955-957)atC>atT	p.I319I	CNDP2_uc002lln.2_Silent_p.I235I	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	319						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TCCATGGCATCGAAGGCGCCT	0.572000														104			34		0	0	0.00170553	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509892	117509892	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:117509892C>T	uc001egv.1	+	5	2136	c.1999C>T	c.(1999-2001)Ctt>Ttt	p.L667F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	667						Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAGGGGCAGCCTTTGGCGAGA	0.542000														44			12		0	0	0.00185496	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816394	156816394	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156816394C>T	uc021ygm.1	+	28	3540	c.3402C>T	c.(3400-3402)ttC>ttT	p.F1134F	CYFIP2_uc011ddn.2_Silent_p.F1109F|CYFIP2_uc011ddo.2_Silent_p.F939F|CYFIP2_uc021ygn.1_Silent_p.F1134F|CYFIP2_uc021ygo.1_Silent_p.F1134F|CYFIP2_uc003lwt.3_Silent_p.F1038F|CYFIP2_uc011ddp.2_Silent_p.F869F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1160					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.F1160F(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCATGCAGTTCGTGTACTGCA	0.617000														144			31		0	0	0.000692331	0	0
BSN	8927	broad.mit.edu	37	3	49698922	49698922	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49698922C>T	uc003cxe.4	+	5	9758	c.9644C>T	c.(9643-9645)cCc>cTc	p.P3215L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3215					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCACCTACCCCTCTGACTCA	0.587000														94			37		0	0	0.000953801	0	0
COL3A1	1281	broad.mit.edu	37	2	189870087	189870087	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189870087G>A	uc002uqj.1	+	40	3060	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	981	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G981G(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGAAAGTGGGAAACCAGGAG	0.428000														103			44		0	0	0.000781405	0	0
MICALCL	84953	broad.mit.edu	37	11	12315422	12315422	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:12315422C>T	uc001mkg.1	+	2	735	c.444C>T	c.(442-444)ccC>ccT	p.P148P		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	148					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGCTATCTCCCTTGGCTGGAG	0.582000														26			4		0	0	0.00024832	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140792946	140792946	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140792946C>T	uc003lkl.2	+	0	204	c.204C>T	c.(202-204)gtC>gtT	p.V68V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.V68V	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	64	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGGAGTCCGCATAGTCT	0.607000														93			27		0	0	0.00178596	0	0
OR11H6	122748	broad.mit.edu	37	14	20692327	20692327	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20692327C>T	uc010tlc.2	+	0	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ACCCCTCCATCATGACTGGGA	0.433000														44			16		0	0	0.000422831	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731113	140731113	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140731113C>T	uc003ljo.2	+	0	1286	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.S429F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	435	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D428N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCCTTTCCTCCAGGACA	0.517000														39			7		0	0	0.000274275	0	0
CFHR5	81494	broad.mit.edu	37	1	196977645	196977645	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:196977645G>A	uc001gts.4	+	9	1670	c.1542G>A	c.(1540-1542)atG>atA	p.M514I		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	514	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAGAAAACATGAACAAAAATA	0.299000														23			15		0	0	0.000422831	0	0
SDK1	221935	broad.mit.edu	37	7	4188922	4188922	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:4188922G>A	uc003smx.3	+	29	4591	c.4452G>A	c.(4450-4452)ctG>ctA	p.L1484L	SDK1_uc010kso.3_Silent_p.L760L|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1484	Fibronectin type-III 9.				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)		GAGAGCTCCTGGTGCCCCAGG	0.667000														26			7		0	0	0.000274275	0	0
JAG1	182	broad.mit.edu	37	20	10653563	10653563	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:10653563G>A	uc002wnw.2	-	1	689	c.173C>T	c.(172-174)gCc>gTc	p.A58V		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	58					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CGGGTTCCGGGCGCCGCCGCA	0.657000									Alagille Syndrome					40			21		0	0	0.00188189	0	0
GPR135	64582	broad.mit.edu	37	14	59930726	59930726	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:59930726G>A	uc010apj.3	-	0	1334	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	GPR135_uc001xed.2_Non-coding_Transcript	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	Homo sapiens G protein-coupled receptor 135 (GPR135), mRNA.	407						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TTCCTAGTCCGGTAGCCCTCC	0.637000														34			10		0	0	0.000673444	0	0
TKTL2	84076	broad.mit.edu	37	4	164394129	164394129	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:164394129G>A	uc003iqp.4	-	0	919	c.758C>T	c.(757-759)cCa>cTa	p.P253L		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	253						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTCAATATTTGGAATACCCCG	0.433000														176			27		0	0	0.00127121	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247196	26247196	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:26247196G>A	uc003nhf.3	-	0	10	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	4					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCCTTGCCCCGAACAGACATG	0.468000														24			26		0	0	0.00106085	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708407	29708407	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:29708407C>T	uc003afa.1	+	6	2163	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	GAS2L1_uc010gvm.1_Missense_Mutation_p.P429L|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.P655L|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	656					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCCCGCCGCCCCTCCGGACCC	0.672000														26			16		0	0	0.000308642	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139645	5139645	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:5139645G>A	uc001ihr.3	+	2	455	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	AKR1C3_uc021pml.1_Missense_Mutation_p.R91Q|AKR1C3_uc010qap.2_Missense_Mutation_p.R68Q|AKR1C3_uc010qaq.1_Missense_Mutation_p.R91Q|AKR1C3_uc001ihu.3_Missense_Mutation_p.R91Q	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	91					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACTTTTCATCGACCAGAGTTG	0.393000														72			28		0	0	0.000692331	0	0
REG1P	5969	broad.mit.edu	37	2	79363185	79363185	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:79363185C>T	uc002soa.1	-	3		c.1129G>A			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		ACCCACTACTCCACTGATAAT	0.517000														10			5		0	0	0.00198382	0	0
OR1L8	138881	broad.mit.edu	37	9	125330442	125330442	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125330442G>A	uc004bmp.1	-	0	315	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAAGGCATAGAGAAAATACA	0.498000														43			13		0	0	0.000308642	0	0
CA10	56934	broad.mit.edu	37	17	50008359	50008359	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:50008359C>T	uc002itv.4	-	3	1024	c.288G>A	c.(286-288)ggG>ggA	p.G96G	CA10_uc002itw.4_Silent_p.G90G|CA10_uc002itx.4_Silent_p.G90G|CA10_uc002ity.4_Silent_p.G90G|CA10_uc002itz.2_Silent_p.G90G	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	90					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CCTTCCTGCCCCCCGTGTTGA	0.498000														85			44		0	0	0.000781405	0	0
TMEM130	222865	broad.mit.edu	37	7	98460902	98460902	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:98460902G>A	uc003upo.3	-	1	396	c.207C>T	c.(205-207)ctC>ctT	p.L69L	TMEM130_uc011kiq.2_Silent_p.L50L|TMEM130_uc011kir.2_Silent_p.L69L|TMEM130_uc003upn.3_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	69						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAGCGGTAGAGGTGGGCGT	0.667000														34			9		0	0	0.000442599	0	0
ZNF648	127665	broad.mit.edu	37	1	182026917	182026917	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:182026917C>T	uc001goz.3	-	1	437	c.229G>A	c.(229-231)Gag>Aag	p.E77K	ZNF648_uc021pfu.1_Missense_Mutation_p.E77K	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E77D(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTCTCTTCCTCTTTGCCCAGT	0.557000														36			15		0	0	0.000308642	0	0
TBC1D12	23232	broad.mit.edu	37	10	96291080	96291080	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96291080G>A	uc001kjr.2	+	11	2307	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	708						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCGATTATATGAAGATATTCT	0.393000														74			12		0	0	0.000978159	0	0
PTPRC	5788	broad.mit.edu	37	1	198665949	198665949	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:198665949C>T	uc001gur.1	+	3	383	c.203C>T	c.(202-204)tCa>tTa	p.S68L	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Missense_Mutation_p.S70L|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Missense_Mutation_p.S111L|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	68					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATGACTTCTCAGAGACCACA	0.463000														72			12		0	0	0.00185496	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529184	6529184	+	Missense_Mutation	SNP	C	T	T	rs113541584		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:6529184C>T	uc001anp.1	-	19	2896	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K	PLEKHG5_uc001ann.1_Missense_Mutation_p.E760K|PLEKHG5_uc001ano.1_Missense_Mutation_p.E779K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E800K|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.E284K|PLEKHG5_uc009vma.1_Missense_Mutation_p.E563K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E792K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E723K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E723K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E723K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E723K	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	779					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		tcctcgccttcctcctcctcc	0.637000														57			31		0	0	0.001512	0	0
FCER1A	2205	broad.mit.edu	37	1	159273877	159273877	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159273877A>T	uc001ftq.3	+	3	333	c.236A>T	c.(235-237)aAt>aTt	p.N79I		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	79	Ig-like 1.					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)	TCAAGTTTGAATATTGTGAAT	0.388000														47			19		0	0	0.00188189	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574325	140574325	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140574325T>A	uc003lix.3	+	0	2374	c.2200T>A	c.(2200-2202)Ttt>Att	p.F734I		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	734					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGGTCCTTTTCCAGGGCA	0.657000														98			25		0	0	0.000491102	0	0
SERPINB12	89777	broad.mit.edu	37	18	61226926	61226926	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61226926G>A	uc010xeo.2	+	2	419	c.419G>A	c.(418-420)gGa>gAa	p.G140E	SERPINB12_uc010xen.2_Missense_Mutation_p.G120E	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	120					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGGCTTTATGGAGAGCAGGAA	0.448000														35			10		0	0	0.00136819	0	0
UROC1	131669	broad.mit.edu	37	3	126229626	126229626	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:126229626C>A	uc010hsi.2	-	1	192	c.138G>T	c.(136-138)agG>agT	p.R46S	UROC1_uc003eiz.2_Missense_Mutation_p.R46S	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	46					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCAGGGCGTTCCTCAGCGCCA	0.642000														36			10		0.000978159	0.00460835	0.000978159	1	0
CRB2	286204	broad.mit.edu	37	9	126132638	126132639	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:126132638_126132639GG>AA	uc004bnx.1	+	6	1398_1399	c.1306_1307GG>AA	c.(1306-1308)ggc>AAc	p.G436N	CRB2_uc004bnw.1_Missense_Mutation_p.G436N	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	436	EGF-like 9.|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ACCGTTCTGTGGCCAGAATACC	0.619000														37			26		0	0	6.4e-05	0	0
P2RY8	286530	broad.mit.edu	37	X	1585120	1585120	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:1585120A>G	uc022brv.1	-	0	332	c.332T>C	c.(331-333)aTc>aCc	p.I111T	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.I111T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	111						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)				CATGGTGAGGATGCTGGAATA	0.592000			T	CRLF2	"""B-ALL, Downs associated ALL"""									25			7		0	0	0.000157383	0	0
DOCK6	57572	broad.mit.edu	37	19	11361648	11361648	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:11361648C>T	uc002mqs.4	-	5	663	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	208					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCCGCCCGCTCTAGCAGAGAG	0.657000														59			25		0	0	0.000586117	0	0
NAT2	10	broad.mit.edu	37	8	18257782	18257782	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:18257782G>A	uc022asl.1	+	0	269	c.269G>A	c.(268-270)gGa>gAa	p.G90E	NAT2_uc003wyw.1_Missense_Mutation_p.G90E	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	90					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.G90G(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ACAATGTTAGGAGGGTATTTT	0.473000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					36			14		0	0	0.000422831	0	0
PSG7	5676	broad.mit.edu	37	19	43430668	43430668	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:43430668C>T	uc002ovl.4	-	4	1009	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.E182K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	304	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				GGTCCTGTTTCATTTCTCGTG	0.498000														45			47		0	0	0.000781405	0	0
SLC30A4	7782	broad.mit.edu	37	15	45783027	45783027	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:45783027G>A	uc001zvj.3	-	3	903	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	197					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CATATAAGAGGAATCCCATAA	0.353000														70			21		0	0	0.000375601	0	0
VPS41	27072	broad.mit.edu	37	7	38766557	38766557	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:38766557G>A	uc003tgy.3	-	27	2462	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	VPS41_uc003tgz.3_Silent_p.F787F|VPS41_uc010kxn.3_Silent_p.F723F|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	812					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|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						GCCGGCAATGGAAGACCACCA	0.507000														62			10		0	0	0.000978159	0	0
CEP135	9662	broad.mit.edu	37	4	56883940	56883940	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:56883940C>T	uc003hbi.3	+	21	3163	c.2929C>T	c.(2929-2931)Ctt>Ttt	p.L977F	CEP135_uc003hbj.3_Missense_Mutation_p.L683F	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	977					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTTGTCATCTCTTAGAGAACT	0.358000														35			17		0	0	0.00074312	0	0
KDM6A	7403	broad.mit.edu	37	X	44942739	44942739	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:44942739C>T	uc011mkz.2	+	23	3850	c.3475C>T	c.(3475-3477)Cct>Tct	p.P1159S	KDM6A_uc004dge.4_Missense_Mutation_p.P1107S|KDM6A_uc011mla.2_Missense_Mutation_p.P1062S|KDM6A_uc011mlb.2_Missense_Mutation_p.P1114S|KDM6A_uc011mlc.2_Missense_Mutation_p.P811S|KDM6A_uc022bvj.1_Missense_Mutation_p.P1028S|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.P746S	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1107	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GACTAAACTTCCTGCTTTTGT	0.403000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""									15			11		0	0	0.00185496	0	0
PNPLA6	10908	broad.mit.edu	37	19	7615202	7615202	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:7615202C>T	uc010xjq.2	+	16	2100	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	PNPLA6_uc002mgq.2_Silent_p.P572P|PNPLA6_uc010xjp.2_Silent_p.P546P|PNPLA6_uc002mgr.2_Silent_p.P572P|PNPLA6_uc002mgs.3_Silent_p.P611P	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	611					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGCACAGCCCAGTGTGGTGC	0.642000														140			47		0	0	0.000781405	0	0
MMP3	4314	broad.mit.edu	37	11	102709863	102709863	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:102709863C>T	uc001phj.1	-	6	1112	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	349	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AAACGAGGTCCTTGCTAGTAA	0.373000														39			21		0	0	0.00188189	0	0
ERC2	26059	broad.mit.edu	37	3	55922428	55922428	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:55922428G>A	uc021wzo.1	-	12	2693	c.2553C>T	c.(2551-2553)atC>atT	p.I851I	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Silent_p.I847I|ERC2_uc003dht.1_Silent_p.I330I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	851						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCATCTCCAGGATCTCCTCCA	0.537000														90			30		0	0	0.000491102	0	0
B4GALT2	8704	broad.mit.edu	37	1	44451195	44451195	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:44451195C>T	uc010okl.2	+	5	1033	c.957C>T	c.(955-957)tcC>tcT	p.S319S	B4GALT2_uc001clg.3_Silent_p.S290S|B4GALT2_uc001clh.3_Silent_p.S224S|B4GALT2_uc001cli.3_Silent_p.S290S	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	290					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TCAGGATCTCCCTGACTGGGA	0.607000														88			29		0	0	0.00058488	0	0
EPPK1	83481	broad.mit.edu	37	8	144940517	144940517	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:144940517G>A	uc003zaa.1	-	0	6918	c.6905C>T	c.(6904-6906)tCg>tTg	p.S2302L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2302						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGCTCGGCCGACAGCAGCTT	0.697000														206			14		0	0	0.000422831	0	0
CACNA1S	779	broad.mit.edu	37	1	201012548	201012548	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:201012548C>T	uc001gvv.3	-	39	5136	c.4909G>A	c.(4909-4911)Gag>Aag	p.E1637K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1637					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)	GACTCCATCTCTTCCATCTCT	0.557000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			16		0	0	0.000566183	0	0
EGFLAM	133584	broad.mit.edu	37	5	38458461	38458461	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:38458461C>T	uc003jlc.2	+	20	3106	c.2760C>T	c.(2758-2760)ttC>ttT	p.F920F	EGFLAM_uc003jlb.2_Silent_p.F912F|EGFLAM_uc003jle.2_Silent_p.F678F|EGFLAM_uc003jlf.2_Silent_p.F278F|EGFLAM_uc003jlg.2_Silent_p.F55F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	920	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.R919R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGGCTCCTTCAACGATGGTC	0.532000														57			11		0	0	0.00185496	0	0
LRG1	116844	broad.mit.edu	37	19	4538062	4538062	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4538062G>A	uc002mau.3	-	1	945	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	PLIN5_uc002mas.3_5'Flank|PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	312	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGCCAACGATAGAGGTCG	0.592000														70			23		0	0	0.00106085	0	0
MEGF6	1953	broad.mit.edu	37	1	3417559	3417559	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:3417559G>A	uc001akl.3	-	19	2773	c.2546C>T	c.(2545-2547)cCc>cTc	p.P849L	MEGF6_uc001akk.3_Missense_Mutation_p.P744L	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	849	EGF-like 14.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGTCCACCCGGGGGCACAGCT	0.647000														60			23		0	0	0.00047179	0	0
APBB1IP	54518	broad.mit.edu	37	10	26830582	26830582	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:26830582G>A	uc001iss.3	+	10	1437	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	APBB1IP_uc009xks.1_Missense_Mutation_p.M372I	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	372	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.M372I(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGCATAAAATGAAATATAAAG	0.303000														56			8		0	0	0.000157383	0	0
VPS13A	23230	broad.mit.edu	37	9	79890989	79890989	+	Silent	SNP	C	T	T	rs151122313		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:79890989C>T	uc004akr.3	+	25	2936	c.2676C>T	c.(2674-2676)atC>atT	p.I892I	VPS13A_uc004akp.4_Silent_p.I892I|VPS13A_uc004akq.4_Silent_p.I892I|VPS13A_uc004aks.3_Silent_p.I892I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	892					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGTTTTGATCGAGTTTTATC	0.323000														64			36		0	0	0.000781405	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175243	45175243	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:45175243A>C	uc002ozo.4	+	0	520	c.40A>C	c.(40-42)Agc>Cgc	p.S14R	CEACAM19_uc002ozp.4_Missense_Mutation_p.S14R	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	14						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTTCTCAAAGAGCCTCCTGCT	0.547000														58			27		0	0	0.00209593	0	0
CD2AP	23607	broad.mit.edu	37	6	47544322	47544322	+	Silent	SNP	C	A	A	rs144912461		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:47544322C>A	uc003oyw.3	+	6	1248	c.792C>A	c.(790-792)acC>acA	p.T264T		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	264					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAACAGATACCGAAGGTAAAA	0.318000														139			9		0.000978159	0.00460835	0.000978159	1	0
PKDREJ	10343	broad.mit.edu	37	22	46658098	46658098	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:46658098C>T	uc003bhh.3	-	0	1122	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	374	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACCAAAAGAACTGGAGTCCCT	0.532000														126			33		0	0	0.000692331	0	0
DCTN1	1639	broad.mit.edu	37	2	74598249	74598249	+	Silent	SNP	G	A	A	rs13017086		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:74598249G>A	uc002skx.3	-	8	1018	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	DCTN1_uc002skv.3_Silent_p.L100L|DCTN1_uc002sku.3_Silent_p.L100L|DCTN1_uc002skw.2_Silent_p.L227L|DCTN1_uc010ffd.3_Silent_p.L214L|DCTN1_uc002sky.3_Silent_p.L197L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	234					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.L234M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTCAGTCTCAGGGTCTCTAGT	0.547000														322			74		0	0	0.000781405	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460166	107460166	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:107460166G>A	uc002tdq.3	-	1	387	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	ST6GAL2_uc002tdr.3_Missense_Mutation_p.H90Y|ST6GAL2_uc002tds.3_Missense_Mutation_p.H90Y	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	90					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.H90Y(4)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGCCCCGCATGAAAGGAACCG	0.627000														55			26		0	0	0.001512	0	0
TRPC4	7223	broad.mit.edu	37	13	38320295	38320295	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:38320295C>T	uc010abx.3	-	2	911	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.E226K|TRPC4_uc001uws.3_Missense_Mutation_p.E226K|TRPC4_uc010tey.2_Missense_Mutation_p.E226K|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.E226K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	226					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCTGAAGTTCCCAACTTAAC	0.478000														21			9		0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13762882	13762882	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:13762882C>T	uc003jfd.2	-	59	10272	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3410	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATAGCTTTCGTCCAGGAAC	0.453000									Kartagener syndrome					63			16		0	0	0.00121646	0	0
DARC	2532	broad.mit.edu	37	1	159176211	159176211	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159176211C>T	uc001ftp.4	+	0	1163	c.988C>T	c.(988-990)Cat>Tat	p.H330Y	DARC_uc001fto.3_Missense_Mutation_p.H328Y	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	328					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATGGTCTTCTCATCTGGACAC	0.537000														260			109		0	0	0.000781405	0	0
COL6A6	131873	broad.mit.edu	37	3	130312062	130312062	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130312062G>A	uc010htl.3	+	15	4467	c.4436G>A	c.(4435-4437)gGa>gAa	p.G1479E	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1479	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTCTTCCTGGAAGAAAAGGA	0.378000														43			21		0	0	0.00229938	0	0
HTT	3064	broad.mit.edu	37	4	3176451	3176451	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:3176451G>C	uc021xkv.1	+	31	4315	c.4170G>C	c.(4168-4170)tgG>tgC	p.W1390C		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1390					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGGCAGATGGTTTGATGTCC	0.418000														74			15		0	0	0.000308642	0	0
ERC2	26059	broad.mit.edu	37	3	56468714	56468714	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:56468714C>T	uc021wzo.1	-	0	462	c.322G>A	c.(322-324)Gga>Aga	p.G108R	ERC2_uc003dhr.1_Missense_Mutation_p.G108R	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	108						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGGAAAGTCCAGCAGAAGCA	0.527000														75			27		0	0	0.00106085	0	0
METTL4	64863	broad.mit.edu	37	18	2539090	2539090	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:2539090C>T	uc002klh.4	-	8	2108	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	METTL4_uc010dkj.3_3'UTR	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	443					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTGTAAATTTCGAGCAAACAA	0.363000														76			31		0	0	0.000692331	0	0
NUP98	4928	broad.mit.edu	37	11	3700811	3700811	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:3700811G>A	uc001lyh.3	-	30	5467	c.5046C>T	c.(5044-5046)gtC>gtT	p.V1682V	NUP98_uc001lyi.3_Silent_p.V1608V|NUP98_uc001lyg.3_Silent_p.V647V	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1699					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GCATTTCAATGACTCTAATAT	0.478000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									37			5		0	0	0.00116845	0	0
LRP1	4035	broad.mit.edu	37	12	57592276	57592276	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:57592276C>T	uc001snd.3	+	59	9965	c.9499C>T	c.(9499-9501)Cat>Tat	p.H3167Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3167					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGGTGACCATTCACTGAT	0.617000														23			8		0	0	0.000442599	0	0
OR2J3	442186	broad.mit.edu	37	6	29080091	29080091	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:29080091C>T	uc011dll.2	+	0	424	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CATGCACCCTCGTTTCTGCCA	0.527000														111			61		0	0	0.000781405	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540977	133540977	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:133540977C>T	uc002ttp.3	-	13	3781	c.3407G>A	c.(3406-3408)aGt>aAt	p.S1136N	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1136							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						CTCATGAGCACTTTGACAACC	0.502000														135			34		0	0	0.00170553	0	0
NPTXR	23467	broad.mit.edu	37	22	39222561	39222561	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:39222561C>T	uc003awk.3	-	2	1196	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	348	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTACAATCTCGTTGGCCTGC	0.672000														90			33		0	0	0.00058488	0	0
XPR1	9213	broad.mit.edu	37	1	180804099	180804100	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:180804099_180804100GG>AA	uc001goi.3	+	9	1416_1417	c.1224_1225GG>AA	c.(1222-1227)atggac>atAAac	p.408_409MD>IN	XPR1_uc009wxm.2_Missense_Mutation_p.408_409MD>IN|XPR1_uc009wxn.3_Missense_Mutation_p.408_409MD>IN	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	408						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGATACTGATGGACCTGGAATA	0.436000														45			18		0	0	6.4e-05	0	0
HRH1	3269	broad.mit.edu	37	3	11301279	11301279	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:11301279G>A	uc010hdr.3	+	1	898	c.556G>A	c.(556-558)Gat>Aat	p.D186N	HRH1_uc010hds.3_Missense_Mutation_p.D186N|HRH1_uc010hdt.3_Missense_Mutation_p.D186N|HRH1_uc003bwb.4_Missense_Mutation_p.D186N|HRH1_uc021wtb.1_Missense_Mutation_p.D186N	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AGACTTCTATGATGTCACCTG	0.498000														114			53		0	0	0.000781405	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21798546	21798546	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21798546G>A	uc001wag.3	+	19	3238	c.3238_splice	c.e19+1	p.D1080_splice	RPGRIP1_uc001wah.3_Splice_Site_p.D722_splice|RPGRIP1_uc001wai.3_Splice_Site_p.D406_splice|RPGRIP1_uc001wak.3_Splice_Site_p.D555_splice|RPGRIP1_uc010aim.3_Splice_Site_p.D463_splice|RPGRIP1_uc001wal.3_Splice_Site_p.D439_splice|RPGRIP1_uc001wam.3_Splice_Site_p.D397_splice	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	1080	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCCTGTAAATGGTATTGTCTT	0.433000														26			7		0	0	0.00198382	0	0
TRPC3	7222	broad.mit.edu	37	4	122846228	122846228	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:122846228C>T	uc003ieg.2	-	2	1195	c.1121G>A	c.(1120-1122)aGg>aAg	p.R374K	TRPC3_uc010inr.2_Missense_Mutation_p.R301K|TRPC3_uc003ief.2_Missense_Mutation_p.R301K|TRPC3_uc011cgl.1_Missense_Mutation_p.R38K	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	289					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGCTTTGTGCCTGTGTACCTC	0.448000														143			40		0	0	0.000781405	0	0
KIAA1324	57535	broad.mit.edu	37	1	109745579	109745579	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:109745579G>A	uc021orb.1	+	21	3208	c.2987G>A	c.(2986-2988)gGa>gAa	p.G996E	KIAA1324_uc010ovg.2_3'UTR|KIAA1324_uc009wey.3_Missense_Mutation_p.G909E|KIAA1324_uc001dwr.3_Missense_Mutation_p.G646E	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	996					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ACTCCTGATGGATTTGACTCA	0.542000														195			122		0	0	0.000781405	0	0
FAM83B	222584	broad.mit.edu	37	6	54805208	54805208	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:54805208G>A	uc003pck.3	+	4	1555	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	480										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)					TTGCAACAACGAATGCCAACC	0.413000														32			23		0	0	0.000720815	0	0
FAM153B	202134	broad.mit.edu	37	5	175530764	175530764	+	Silent	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:175530764C>A	uc003mdk.3	+	13	798	c.741C>A	c.(739-741)tcC>tcA	p.S247S	FAM153B_uc021yic.1_Non-coding_Transcript	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	247										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TACAGACATCCTTGGGAGTTC	0.453000														104			12		7.26314e-15	3.46547e-14	0.00127121	1	0
WDR60	55112	broad.mit.edu	37	7	158694445	158694445	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:158694445G>A	uc003woe.4	+	8	1233	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	359										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAAAAGGAAGAAACTGATTT	0.269000														18			5		0	0	0.00116845	0	0
HERC3	8916	broad.mit.edu	37	4	89599133	89599133	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:89599133A>C	uc003hrw.1	+	18	2210	c.2044A>C	c.(2044-2046)Aac>Cac	p.N682H	HERC3_uc011cdn.1_Missense_Mutation_p.N564H|HERC3_uc011cdo.1_Missense_Mutation_p.N126H	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	682					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAATGGAGCCAACCTGCAGAA	0.542000														49			10		0	0	0.000978159	0	0
DYTN	391475	broad.mit.edu	37	2	207575313	207575313	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207575313T>A	uc002vbr.1	-	1	146	c.29A>T	c.(28-30)aAt>aTt	p.N10I		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	10						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTCAATACTATTAAGAGCATC	0.318000														29			10		0	0	0.000442599	0	0
RIC3	79608	broad.mit.edu	37	11	8132361	8132361	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:8132361C>T	uc010rbm.1	-	5	1132	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	RIC3_uc001mgb.2_Missense_Mutation_p.E170K|RIC3_uc010rbl.1_Missense_Mutation_p.E282K|RIC3_uc001mgd.2_Missense_Mutation_p.E332K|RIC3_uc001mgc.2_Missense_Mutation_p.E331K|RIC3_uc009yfm.2_Missense_Mutation_p.E251K|RIC3_uc001mge.2_Missense_Mutation_p.E150K|RIC3_uc009yfn.2_Missense_Mutation_p.E135K	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	332						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTGGTGGTTTCCTCTTGCTCA	0.483000														82			31		0	0	0.000491102	0	0
SPAST	6683	broad.mit.edu	37	2	32372286	32372286	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:32372286G>A	uc002roc.3	+	16	1909	c.1688_splice	c.e16-1	p.E563_splice	SPAST_uc002rod.3_Splice_Site_p.E531_splice	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	563	Sufficient for microtubule severing.				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGTTTTACAGAACTAAAACC	0.308000														98			20		0	0	0.000375601	0	0
FAM118A	55007	broad.mit.edu	37	22	45728384	45728384	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:45728384C>T	uc003bfz.4	+	6	1346	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	FAM118A_uc003bga.4_Nonsense_Mutation_p.Q244*|FAM118A_uc011aqr.2_Nonsense_Mutation_p.Q62*	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	244						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCAGATATTCCAGGCCCTCTT	0.468000														160			59		0	0	0.000781405	0	0
RGS4	5999	broad.mit.edu	37	1	163043410	163043410	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:163043410G>A	uc001gcl.4	+	4	996	c.667G>A	c.(667-669)Gag>Aag	p.E223K	RGS4_uc009wuy.3_Missense_Mutation_p.E126K|RGS4_uc009wuz.3_Intron|RGS4_uc009wva.3_Missense_Mutation_p.E108K	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	126					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GGCAACCAAAGAGGTAGGttt	0.343000														10			6		0	0	0.00198382	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99619278	99619278	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:99619278G>A	uc001kos.3	+	1	142	c.76G>A	c.(76-78)Gac>Aac	p.D26N		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	Homo sapiens golgin A7 family, member B (GOLGA7B), mRNA.	26						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						TATCCAGAGAGACTACAGCGA	0.582000														37			11		0	0	0.00185496	0	0
KCNQ2	3785	broad.mit.edu	37	20	62046333	62046333	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:62046333C>T	uc002yey.1	-	12	1625	c.1448G>A	c.(1447-1449)aGc>aAc	p.S483N	KCNQ2_uc002yez.1_Missense_Mutation_p.S453N|KCNQ2_uc002yfa.1_Missense_Mutation_p.S465N|KCNQ2_uc002yfb.1_Missense_Mutation_p.S455N	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	483					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GAAGCTCCAGCTCTTGGGCAC	0.692000														90			10		0	0	0.00136819	0	0
RCAN2	10231	broad.mit.edu	37	2	174131192	174131192	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:174131192C>T	uc002uhz.3	+	19	2317	c.2117C>T	c.(2116-2118)tCa>tTa	p.S706L	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCCACTCCTTCAAGAGGAAGA	0.473000														33			9		0	0	0.000442599	0	0
INTS2	57508	broad.mit.edu	37	17	59949765	59949765	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:59949765G>A	uc002izn.3	-	19	2739	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	INTS2_uc002izm.3_Missense_Mutation_p.S880F	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	888					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTAGGCTTTAGATGCAAGAAG	0.388000														24			7		0	0	0.000274275	0	0
EBF2	64641	broad.mit.edu	37	8	25715986	25715986	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:25715986C>T	uc003xes.2	-	13	1642	c.1377G>A	c.(1375-1377)cgG>cgA	p.R459R	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	459	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.P458L(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAGAGTATCCCCGCGGAGAGA	0.522000														55			10		0	0	0.000978159	0	0
PPM1L	151742	broad.mit.edu	37	3	160783332	160783332	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:160783332G>A	uc003fdr.3	+	2	817	c.716G>A	c.(715-717)aGa>aAa	p.R239K	PPM1L_uc003fds.3_Missense_Mutation_p.R60K|PPM1L_uc003fdt.3_Missense_Mutation_p.R112K|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	239	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.R239T(1)|p.R60T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTGAAGGAAAGAAAGAGGATA	0.507000														28			5		0	0	0.000602214	0	0
GLIS3	169792	broad.mit.edu	37	9	3856122	3856122	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:3856122G>A	uc003zhx.1	-	8	3073	c.2360C>T	c.(2359-2361)tCa>tTa	p.S787L	GLIS3_uc010mhf.1_Missense_Mutation_p.S181L|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.S632L|GLIS3_uc003zhy.1_Missense_Mutation_p.S565L	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	632					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGCAGTATTGAAGAAGGAGC	0.463000														50			22		0	0	0.00188189	0	0
SPECC1L	23384	broad.mit.edu	37	22	24717903	24717903	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:24717903C>T	uc002zzw.3	+	4	1258	c.955C>T	c.(955-957)Cct>Tct	p.P319S	SPECC1L_uc002zzv.4_Missense_Mutation_p.P319S|SPECC1L_uc011ajq.2_Missense_Mutation_p.P319S|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	319					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGGCTCTGCCCCTGGCTCAGT	0.488000														74			23		0	0	0.000720815	0	0
DSP	1832	broad.mit.edu	37	6	7582972	7582972	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:7582972A>T	uc003mxp.1	+	23	5756	c.5477A>T	c.(5476-5478)aAg>aTg	p.K1826M	DSP_uc003mxq.1_Missense_Mutation_p.K1227M|DSP_uc021yle.1_Missense_Mutation_p.K1383M	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1826	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGCAAGACAAGGCAAGGCTG	0.483000														98			52		0	0	0.000781405	0	0
CYTH1	9267	broad.mit.edu	37	17	76694375	76694376	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:76694375_76694376GG>AA	uc021ueg.1	-	8	857_858	c.786_787CC>TT	c.(784-789)gaccga>gaTTga	p.R263*	CYTH1_uc002jvw.3_Nonsense_Mutation_p.R263*|U6_uc021ueh.1_5'Flank|CYTH1_uc010wtw.1_Nonsense_Mutation_p.R204*|CYTH1_uc010wtx.1_Nonsense_Mutation_p.R204*	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	263	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CAGCCTTCTCGGTCTGGATTGA	0.475000														93			65		0	0	6.4e-05	0	0
CXCR7	57007	broad.mit.edu	37	2	237489778	237489778	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:237489778C>T	uc021vys.1	+	0	670	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	CXCR7_uc010fyq.3_Missense_Mutation_p.P224S|CXCR7_uc002vwd.3_Missense_Mutation_p.P224S	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	224					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CTTTGCCGTTCCCTTCTCCAT	0.562000														79			31		0	0	0.001512	0	0
FCER1A	2205	broad.mit.edu	37	1	159272205	159272205	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159272205C>T	uc001ftq.3	+	1	148	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	17						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)	CCTTACTGTTCTTCGGTAAGT	0.498000														68			24		0	0	0.000720815	0	0
LOC100192204	100192204	broad.mit.edu	37	10	15197214	15197214	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:15197214G>A	uc010qca.1	-	0	133	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	NMT2_uc001inz.1_Intron|NMT2_uc001ioa.1_Intron|NMT2_uc010qbz.1_Intron					Homo sapiens peptidylprolyl isomerase A (cyclophilin A) pseudogene (LOC100192204), non-coding RNA.																		CTCAGAGCACGAAAGTTTTCT	0.473000														79			33		0	0	0.00111076	0	0
ODZ1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:123654524C>T	uc010nqy.3	-	17	3208	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	ODZ1_uc011muj.2_Silent_p.T1047T|ODZ1_uc004euj.3_Silent_p.T1048T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1048					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTACAGGAATCGTTGAATGTG	0.493000														32			9		0	0	0.000274275	0	0
SPACA7	122258	broad.mit.edu	37	13	113086823	113086824	+	Missense_Mutation	DNP	GG	AA	AA	rs150077672		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:113086823_113086824GG>AA	uc001vsd.2	+	5	560_561	c.511_512GG>AA	c.(511-513)gga>AAa	p.G171K		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	171						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TCAAAATATTGGAAGATCTTCA	0.391000														47			15		0	0	6.4e-05	0	0
ZNF99	7652	broad.mit.edu	37	19	22941146	22941146	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22941146G>A	uc021urt.1	-	3	1720	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.Q521K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTAAGGGCTGAGAAATGCTT	0.348000														36			7		0	0	0.000673444	0	0
MYH4	4622	broad.mit.edu	37	17	10362706	10362706	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10362706G>A	uc002gmn.3	-	14	1560	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	483	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F483V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCGTTGGTGAAGTTGATGC	0.418000														58			29		0	0	0.000491102	0	0
NCOA6	23054	broad.mit.edu	37	20	33328277	33328277	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:33328277G>A	uc002xav.3	-	11	8354	c.5783C>T	c.(5782-5784)tCc>tTc	p.S1928F	NCOA6_uc002xaw.3_Missense_Mutation_p.S1928F|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.S1928F|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1928	EP300/CRSP3-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CGGTACGGCGGAGATGAGCTC	0.587000														30			10		0	0	0.000978159	0	0
CFHR1	3078	broad.mit.edu	37	1	196794625	196794625	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:196794625C>T	uc001gtn.3	+	1	191	c.77C>T	c.(76-78)cCa>cTa	p.P26L	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	26	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGTGATTTTCCAAAAATAAAC	0.269000														25			8		0	0	0.000274275	0	0
CBLB	868	broad.mit.edu	37	3	105378011	105378011	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:105378011G>A	uc003dwc.3	-	18	3074	c.2752C>T	c.(2752-2754)Cac>Tac	p.H918Y	CBLB_uc003dwa.3_Missense_Mutation_p.H133Y|CBLB_uc011bhi.2_Missense_Mutation_p.H896Y	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	918	Interaction with SH3KBP1.|Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTTCTGTGGTGAATTTCTGGT	0.473000			Mis S		AML									89			13		0	0	0.000219431	0	0
FAM83H	286077	broad.mit.edu	37	8	144812355	144812355	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:144812355C>T	uc003yzk.3	-	1	467	c.398G>A	c.(397-399)aGc>aAc	p.S133N	FAM83H_uc022bch.1_Missense_Mutation_p.S133N	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	133					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)			GATACTGGGGCTGTCGGGGGG	0.662000														13			8		0	0	0.000274275	0	0
PAQR7	164091	broad.mit.edu	37	1	26189515	26189516	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:26189515_26189516CC>TT	uc021ojm.1	-	0	815_816	c.815_816GG>AA	c.(814-816)ggg>gAA	p.G272E	PAQR7_uc001bkx.3_Missense_Mutation_p.G272E	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	Homo sapiens progestin and adipoQ receptor family member VII (PAQR7), mRNA.	272			G -> R (in dbSNP:rs6689014).		cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGCCCTGCCCGAAGACATG	0.594000														60			23		0	0	6.4e-05	0	0
STAT4	6775	broad.mit.edu	37	2	191895761	191895761	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:191895761G>A	uc002usm.2	-	22	2472	c.2157C>T	c.(2155-2157)ccC>ccT	p.P719P	STAT4_uc002usn.2_Silent_p.P719P	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	719					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P719P(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTGGAGACATGGGAAGAAGGT	0.398000														171			46		0	0	0.000781405	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679102	37679102	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:37679102C>T	uc001uwm.1	-	0	700	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	98	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.E98E(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAGAGGTCTTCGAGGCTGGGT	0.453000														56			18		0	0	0.00121646	0	0
OR4B1	119765	broad.mit.edu	37	11	48239282	48239282	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:48239282G>A	uc010rhs.2	+	0	921	c.921G>A	c.(919-921)ggG>ggA	p.G307G		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P306T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGAATCCAGGGAGGGAGTGAA	0.408000														14			10		0	0	0.000673444	0	0
NLRC4	58484	broad.mit.edu	37	2	32474890	32474890	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:32474890C>T	uc002roi.3	-	3	2304	c.2043G>A	c.(2041-2043)ggG>ggA	p.G681G	NLRC4_uc021vfq.1_Silent_p.G681G|NLRC4_uc002roj.2_Silent_p.G681G|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	681					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAATATTTTCCCCAGATATC	0.458000														87			18		0	0	0.000958276	0	0
LIFR	3977	broad.mit.edu	37	5	38530672	38530672	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:38530672G>A	uc010ive.1	-	1	410	c.78C>T	c.(76-78)ttC>ttT	p.F26F	LIFR_uc003jli.2_Silent_p.F26F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	26					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACAGCCACTGGAAATTTGAAG	0.383000			T	PLAG1	salivary adenoma									50			11		0	0	0.000673444	0	0
PHKA1	5255	broad.mit.edu	37	X	71846820	71846820	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:71846820C>T	uc004eax.4	-	17	2094	c.1793_splice	c.e17+1	p.R598_splice	PHKA1_uc004eay.4_Splice_Site_p.R598_splice|PHKA1_uc011mqi.2_Splice_Site_p.R598_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	598					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGTCACTTACCTTGCCCCAC	0.403000														30			18		0	0	0.00074312	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216597	170216597	+	Silent	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:170216597C>A	uc003fgz.2	-	3	934	c.618G>T	c.(616-618)ggG>ggT	p.G206G	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	206						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AATTCTTCACCCCCAGAGCAA	0.463000														80			21		5.45024e-15	2.60152e-14	0.00047179	1	0
KIAA1383	54627	broad.mit.edu	37	1	232942939	232942939	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:232942939G>C	uc001hvh.2	+	0	2302	c.2170G>C	c.(2170-2172)Gtt>Ctt	p.V724L		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	582	Ser-rich.									breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				AATCAGTGGAGTTTTTGATGA	0.333000														39			5		0	0	0.000602214	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997320	19997320	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:19997320G>A	uc002ktv.1	-	0	559	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	152						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGATTTGAGGGATTTTGACTC	0.353000														139			59		0	0	0.000781405	0	0
RELN	5649	broad.mit.edu	37	7	103214583	103214584	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:103214583_103214584CC>TT	uc022ajr.1	-	29	4626_4627	c.4466_4467GG>AA	c.(4465-4467)ggg>gAA	p.G1489E	RELN_uc022ajq.1_Missense_Mutation_p.G1489E|RELN_uc010liz.3_Missense_Mutation_p.G1489E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1489					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.G1489R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCCCTTTTCCCAGGGCCATT	0.470000														119			34		0	0	6.4e-05	0	0
NGFR	4804	broad.mit.edu	37	17	47583972	47583972	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:47583972G>A	uc002ioz.4	+	2	645	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	174					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CGAGGACACCGAGCGCCAGCT	0.726000														12			14		0	0	0.00185496	0	0
NRAP	4892	broad.mit.edu	37	10	115372085	115372085	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:115372085G>A	uc001lal.3	-	29	3570	c.3406C>T	c.(3406-3408)Cag>Tag	p.Q1136*	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Nonsense_Mutation_p.Q1136*|NRAP_uc001lak.3_Nonsense_Mutation_p.Q1101*	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1136						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGTAGTCCTGATTGCTGGCC	0.532000														51			11		0	0	0.000673444	0	0
KDM5D	8284	broad.mit.edu	37	Y	21877756	21877756	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrY:21877756G>A	uc004fug.3	-	15	2454	c.2166C>T	c.(2164-2166)tcC>tcT	p.S722S	KDM5D_uc011naz.2_Silent_p.S753S|KDM5D_uc010nwy.3_Silent_p.S665S|KDM5D_uc011nba.1_Silent_p.S722S|KDM5D_uc004fuf.3_5'Flank	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	722					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CATTGATGTGGGAAAGGCATA	0.557000														16			13		0	0	0.000308642	0	0
ADAM7	8756	broad.mit.edu	37	8	24333949	24333949	+	Missense_Mutation	SNP	C	T	T	rs148539948		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:24333949C>T	uc003xeb.3	+	7	750	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	ADAM7_uc003xec.3_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	213	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		tttCCAGTATCGCAGAAATGG	0.299000														33			7		0	0	0.00198382	0	0
SCN10A	6336	broad.mit.edu	37	3	38739124	38739124	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38739124G>A	uc003ciq.3	-	26	5587	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1863	IQ.				sensory perception	voltage-gated sodium channel complex		p.R1863W(2)		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)	ACATAGCTCCGATAGGCCTTT	0.488000														59			20		0	0	0.00188189	0	0
RBMS1	5937	broad.mit.edu	37	2	161143583	161143583	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:161143583G>A	uc002ubo.3	-	6	1097	c.653C>T	c.(652-654)cCt>cTt	p.P218L	RBMS1_uc002ubn.3_Missense_Mutation_p.P218L|RBMS1_uc002ubi.4_Missense_Mutation_p.P218L|RBMS1_uc002ubm.3_Missense_Mutation_p.P185L|RBMS1_uc002ubp.3_Missense_Mutation_p.P218L|RBMS1_uc010fox.2_Missense_Mutation_p.P218L	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	218	RRM 2.				DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								ACACAATAAAGGTTCTGTGGG	0.373000														152			22		0	0	0.000586117	0	0
COL6A6	131873	broad.mit.edu	37	3	130286904	130286904	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130286904G>A	uc010htl.3	+	4	1888	c.1857G>A	c.(1855-1857)atG>atA	p.M619I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	619	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCAAAGAGATGAAAGCTGACA	0.358000														51			19		0	0	0.00121646	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500145	48500145	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:48500145G>A	uc001zwn.4	+	1	445	c.229G>A	c.(229-231)Gga>Aga	p.G77R	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.3_Missense_Mutation_p.G77R|SLC12A1_uc010uex.2_Missense_Mutation_p.G77R	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	77					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCTCCAAAGTGGAGAAACTGC	0.423000														41			15		0	0	0.000308642	0	0
PXDNL	137902	broad.mit.edu	37	8	52366189	52366189	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:52366189G>A	uc003xqu.4	-	9	1240	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	380	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAGTCCACTGGACGTTGCCAC	0.502000														48			10		0	0	0.000442599	0	0
OR2J2	26707	broad.mit.edu	37	6	29141830	29141830	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:29141830C>T	uc011dlm.2	+	0	520	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CATGCACCCTCGTTTCTGCCA	0.468000														119			69		0	0	0.000781405	0	0
FUT3	2525	broad.mit.edu	37	19	5844648	5844648	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:5844648C>A	uc002mdk.2	-	1	300	c.203G>T	c.(202-204)cGg>cTg	p.R68L	FUT3_uc002mdm.2_Missense_Mutation_p.R68L|FUT3_uc002mdj.2_Missense_Mutation_p.R68L|FUT3_uc002mdl.2_Missense_Mutation_p.R68L|FUT3_uc021unn.1_Missense_Mutation_p.R68L|BC033124_uc002mdn.3_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	68			W -> R (in Le(-); dbSNP:rs812936).		protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGCCATGTCCGTAGCAGGAT	0.647000														108			6		0.00198382	0.00929871	0.00198382	1	0
TTN	7273	broad.mit.edu	37	2	179396737	179396737	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179396737C>T	uc021vsy.1	-	306	97126	c.96901G>A	c.(96901-96903)Gaa>Aaa	p.E32301K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25996K|TTN_uc021vta.1_Missense_Mutation_p.E25929K|TTN_uc021vtb.1_Missense_Mutation_p.E25804K|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33228	Protein kinase.						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)			GTGTCATCTTCGTATTCCTCA	0.527000														18			7		0	0	0.00198382	0	0
CNTN4	152330	broad.mit.edu	37	3	2787248	2787248	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:2787248C>T	uc003bpc.3	+	5	564	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.F75F|CNTN4_uc003bpd.1_Silent_p.F75F	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	75	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTATGGATTTCCGCTACAGTG	0.383000														116			27		0	0	0.00209593	0	0
CHID1	66005	broad.mit.edu	37	11	902221	902221	+	Missense_Mutation	SNP	G	A	A	rs139154177		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:902221G>A	uc010qwu.1	-	3	574	c.461C>T	c.(460-462)aCg>aTg	p.T154M	CHID1_uc010qwv.2_Missense_Mutation_p.T185M|CHID1_uc001lsn.3_Missense_Mutation_p.T149M|CHID1_uc001lso.3_Missense_Mutation_p.T124M|CHID1_uc001lsm.3_Missense_Mutation_p.T124M|CHID1_uc001lsp.3_Missense_Mutation_p.T124M|CHID1_uc010qww.2_Missense_Mutation_p.T124M	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.	124					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	p.T124M(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GTGGAGGCCCGTGACCTCAAA	0.567000														59			12		0	0	0.000978159	0	0
SLIT2	9353	broad.mit.edu	37	4	20620397	20620397	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:20620397C>T	uc003gpr.1	+	36	4559	c.4355C>T	c.(4354-4356)tCt>tTt	p.S1452F	SLIT2_uc003gps.1_Missense_Mutation_p.S1444F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1452					Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						CTAGAAATCTCTTGTCGAGGG	0.428000														57			16		0	0	0.000958276	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378808	92378808	+	Splice_Site	SNP	G	A	A	rs149167044		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:92378808G>A	uc003yez.3	+	14	1728	c.1489_splice	c.e14-1	p.E497_splice	SLC26A7_uc003yex.3_Splice_Site_p.E497_splice|SLC26A7_uc003yey.3_Splice_Site|SLC26A7_uc003yfa.3_Splice_Site_p.E497_splice	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	497	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.E497K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTCCAAAAGGAAACCCTGCA	0.313000														41			8		0	0	0.000157383	0	0
CUX2	23316	broad.mit.edu	37	12	111652091	111652091	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:111652091G>A	uc001tsa.2	+	1	305	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	CUX2_uc001tsb.2_Missense_Mutation_p.E106K	NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACTCCGCCGGGAATTTAAGAA	0.383000														53			28		0	0	0.00106085	0	0
EXPH5	23086	broad.mit.edu	37	11	108383740	108383740	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:108383740C>T	uc001pkk.3	-	5	2605	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	EXPH5_uc010rvz.2_Missense_Mutation_p.E676K|EXPH5_uc010rvy.2_Missense_Mutation_p.E644K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	832					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACAGTTAATTCCTGGTGACAA	0.388000														72			40		0	0	0.00195071	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766376	171766376	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:171766376G>A	uc003mbr.3	-	12	1904	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	578					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTGGGCTCTGGCCTCCTGCT	0.597000														134			26		0	0	0.000491102	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217601	150217601	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150217601G>A	uc003whk.3	+	1	669	c.539G>A	c.(538-540)aGt>aAt	p.S180N	GIMAP7_uc022apu.1_Missense_Mutation_p.S180N	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	180							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGAAGGAAAGTCAAGTGCAG	0.498000														45			23		0	0	0.00188189	0	0
IL1R1	3554	broad.mit.edu	37	2	102792865	102792865	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:102792865C>T	uc002tbq.3	+	11	1674	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	IL1R1_uc010fix.3_Silent_p.I421I|IL1R1_uc002tbr.3_Silent_p.I452I	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	452	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GACTGATTATCATTTTAGTCA	0.353000														70			10		0	0	0.000978159	0	0
SCN2A	6326	broad.mit.edu	37	2	166179830	166179830	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:166179830C>T	uc002udc.3	+	11	2126	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	SCN2A_uc002udd.3_Silent_p.F612F|SCN2A_uc002ude.3_Silent_p.F612F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	612					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACTCTCTGTTCGTGCCGCACA	0.557000														41			21		0	0	0.000375601	0	0
FCAMR	83953	broad.mit.edu	37	1	207139141	207139141	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207139141G>A	uc001hfa.4	-	3	732	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	FCAMR_uc001hfb.3_Missense_Mutation_p.P78S|FCAMR_uc009xca.2_Missense_Mutation_p.P78S|FCAMR_uc021pig.1_5'UTR	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	33	Ig-like V-type.|Mediates immunoglobulin Fc fragment- binding (By similarity).					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GTCCTGGAGGGGAGAGAGCCC	0.607000														28			5		0	0	0.00116845	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842006	28842007	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:28842006_28842007TC>GT	uc002dqy.3	+	8	1272_1273	c.1105_1106TC>GT	c.(1105-1107)tct>GTt	p.S369V	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.S369V|ATXN2L_uc002dqz.3_Missense_Mutation_p.S369V|ATXN2L_uc002dra.3_Missense_Mutation_p.S369V|ATXN2L_uc002drb.3_Missense_Mutation_p.S369V|ATXN2L_uc002drc.3_Missense_Mutation_p.S369V|ATXN2L_uc010vdb.2_Missense_Mutation_p.S369V|ATXN2L_uc002dre.3_Missense_Mutation_p.S369V|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	369						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ATGCAGCAGCTCTCGGGGCGGT	0.604000														41			14		0	0	6.4e-05	0	0
CMYA5	202333	broad.mit.edu	37	5	79025289	79025289	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:79025289C>T	uc003kgc.3	+	1	773	c.701C>T	c.(700-702)tCg>tTg	p.S234L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	234						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)		ATGTTTAATTCGGTTAAAGAA	0.323000														37			9		0	0	0.000442599	0	0
YSK4	80122	broad.mit.edu	37	2	135779349	135779349	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:135779349G>A	uc002tue.1	-	1	105	c.74C>T	c.(73-75)cCa>cTa	p.P25L	YSK4_uc010fne.1_5'UTR|YSK4_uc002tuf.1_Missense_Mutation_p.P25L|YSK4_uc010fnc.1_Missense_Mutation_p.P25L|YSK4_uc010fnd.1_Missense_Mutation_p.P25L|YSK4_uc010zbg.1_Missense_Mutation_p.P25L|YSK4_uc002tui.4_Missense_Mutation_p.P42L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	25							ATP binding|protein serine/threonine kinase activity	p.H25Y(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAAATCAGTTGGAGAAGAGTT	0.368000														60			28		0	0	0.000491102	0	0
TTN	7273	broad.mit.edu	37	2	179468614	179468614	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179468614C>T	uc021vsy.1	-	230	47321	c.47096G>A	c.(47095-47097)gGa>gAa	p.G15699E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G9394E|TTN_uc021vta.1_Missense_Mutation_p.G9327E|TTN_uc021vtb.1_Missense_Mutation_p.G9202E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16626	Ig-like 98.						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)			TATGGGATCTCCTGCAACCTC	0.408000														19			10		0	0	0.000442599	0	0
EMB	133418	broad.mit.edu	37	5	49699234	49699234	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:49699234C>T	uc003jom.3	-	5	904	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	EMB_uc010ivq.3_Missense_Mutation_p.E13K|EMB_uc003jol.3_Missense_Mutation_p.E150K|EMB_uc011cpy.2_Missense_Mutation_p.E169K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	219	Ig-like V-type 2.					integral to membrane		p.E219K(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AGCTTTGTTTCGTTAGCATAT	0.378000														18			5		0	0	0.000602214	0	0
RBM47	54502	broad.mit.edu	37	4	40439833	40439833	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:40439833G>A	uc003gvc.2	-	3	1788	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	RBM47_uc003gvd.2_Missense_Mutation_p.P360S|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.P322S|RBM47_uc003gvg.1_Missense_Mutation_p.P360S	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	360						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCGTTGTAGGGGTAGCCGTAG	0.637000														27			6		0	0	0.00116845	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102471549	102471549	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:102471549C>T	uc001yks.2	+	25	5573	c.5409C>T	c.(5407-5409)ctC>ctT	p.L1803L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1803	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGCCCCCACTCCGAAGGCGGA	0.532000														48			10		0	0	0.00136819	0	0
PUM2	23369	broad.mit.edu	37	2	20494229	20494229	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:20494229G>A	uc002rds.1	-	7	1078	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	PUM2_uc002rdt.1_Missense_Mutation_p.P354S|PUM2_uc002rdr.2_Missense_Mutation_p.P293S|PUM2_uc010yjy.1_Missense_Mutation_p.P354S|PUM2_uc002rdu.1_Missense_Mutation_p.P354S|PUM2_uc010yjz.1_Missense_Mutation_p.P293S	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	354	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTTGGCTGGATACACCCCC	0.517000														116			22		0	0	0.00047179	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564661	179564661	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:179564661G>A	uc003mlq.3	-	1	526	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	RASGEF1C_uc003mlr.3_Missense_Mutation_p.R77W|RASGEF1C_uc003mlp.4_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	77	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCTCCCGGGGCTCGATG	0.652000														38			12		0	0	0.000422831	0	0
NYAP2	57624	broad.mit.edu	37	2	226447449	226447449	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:226447449C>T	uc002voe.2	+	3	1491	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P209L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	439	Pro-rich.																TCTCCCTCCCCCGTCAGCATG	0.642000														21			9		0	0	0.000442599	0	0
CSMD2	114784	broad.mit.edu	37	1	34238348	34238348	+	Silent	SNP	G	A	A	rs144733811	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:34238348G>A	uc001bxm.1	-	12	1845	c.1668C>T	c.(1666-1668)atC>atT	p.I556I	CSMD2_uc001bxn.1_Silent_p.I516I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	516	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCTGCTCGATCTCTGAAA	0.527000														49			9		0	0	0.000274275	0	0
GYPA	2993	broad.mit.edu	37	4	144918707	144918707	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:144918707G>A	uc003ijn.2	-	4	468	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	GYPA_uc010ioo.1_Intron|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Non-coding_Transcript|GYPA_uc011chw.1_Intron|GYPA_uc011chx.1_Non-coding_Transcript|GYPA_uc003ijm.1_Missense_Mutation_p.R86C|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Intron|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Non-coding_Transcript			P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	115					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ATCAGTCGGCGAATACTGTAA	0.368000														46			10		0	0	0.000978159	0	0
JAK3	3718	broad.mit.edu	37	19	17948773	17948773	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17948773C>T	uc002nhn.4	-	11	1769	c.1669G>A	c.(1669-1671)Gtc>Atc	p.V557I	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.V557I	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	557	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCATCCATGACCTTCAGCAGC	0.582000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									246			105		0	0	0.000781405	0	0
TRPM3	80036	broad.mit.edu	37	9	73477827	73477828	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:73477827_73477828GG>AA	uc004aid.3	-	2	702_703	c.458_459CC>TT	c.(457-459)gcc>gTT	p.A153V	TRPM3_uc004ahw.3_5'UTR|TRPM3_uc004ahx.3_5'UTR|TRPM3_uc004ahy.3_5'UTR|TRPM3_uc004ahz.3_5'UTR|TRPM3_uc004aia.3_5'UTR|TRPM3_uc004aib.3_5'UTR|TRPM3_uc004aic.3_Missense_Mutation_p.A153V|TRPM3_uc010mor.3_Missense_Mutation_p.A153V|TRPM3_uc004aie.3_5'UTR|TRPM3_uc004aif.3_5'UTR|TRPM3_uc004aig.3_5'UTR|TRPM3_uc004aii.3_Missense_Mutation_p.A155V	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	153						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGATTACCATGGCTTTGTTGGA	0.465000														35			20		0	0	6.4e-05	0	0
UBE2K	3093	broad.mit.edu	37	4	39739052	39739052	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:39739052C>T	uc003guu.4	+	1	360	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	UBE2K_uc003gus.4_Nonsense_Mutation_p.Q26*|UBE2K_uc003gut.4_Intron|UBE2K_uc010ifn.3_Intron|UBE2K_uc011byq.2_Nonsense_Mutation_p.Q26*|UBE2K_uc003guq.4_5'UTR	NM_005339	NP_005330	P61086	UBE2K_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2K (UBE2K), transcript variant 1, mRNA.	26					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			large_intestine(1)|lung(1)|ovary(2)	4						GAGCAAAAATCAAATTAAAGT	0.318000														62			12		0	0	0.00136819	0	0
SYNE2	23224	broad.mit.edu	37	14	64537419	64537419	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:64537419C>T	uc001xgl.3	+	51	10718	c.10488C>T	c.(10486-10488)tcC>tcT	p.S3496S	SYNE2_uc001xgm.3_Silent_p.S3496S|SYNE2_uc021ruh.1_Silent_p.S3529S|SYNE2_uc010apw.1_Silent_p.S202S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3496					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGAAATTTCCAAAACAAAAG	0.368000														35			5		0	0	0.00116845	0	0
TRIM72	493829	broad.mit.edu	37	16	31230790	31230790	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:31230790G>T	uc002ebn.2	+	3	951	c.667G>T	c.(667-669)Gag>Tag	p.E223*	PYDC1_uc002ebo.3_5'Flank|PYDC1_uc021tgv.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	223					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCGGCAGATGGAGAAGGTCCT	0.677000														45			16		1.37285e-15	6.55815e-15	0.000422831	1	0
VAMP7	6845	broad.mit.edu	37	X	155169448	155169448	+	Silent	SNP	C	T	T	rs138653672		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:155169448C>T	uc004fnr.3	+	6	763	c.585C>T	c.(583-585)atC>atT	p.I195I	VAMP7_uc011naa.2_Silent_p.I156I|VAMP7_uc011nab.2_Silent_p.I94I|VAMP7_uc004fnt.3_Silent_p.I154I|VAMP7_uc004fns.3_Missense_Mutation_p.R173C|VAMP7_uc011nac.2_Silent_p.I128I	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	195					ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCATCATCGTATCAATTG	0.348000														138			19		0	0	0.00229938	0	0
CRYBB2	1415	broad.mit.edu	37	22	25620999	25621000	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:25620999_25621000GG>AA	uc003abp.1	+	2	217_218	c.169_170GG>AA	c.(169-171)gga>AAa	p.G57K		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	57	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AGTGCAGGCTGGACCGTAAGTA	0.564000														61			21		0	0	6.4e-05	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427148	38427148	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:38427148G>A	uc003jlc.2	+	13	2194	c.1848G>A	c.(1846-1848)ctG>ctA	p.L616L	EGFLAM_uc003jlb.2_Silent_p.L616L|EGFLAM_uc003jle.2_Silent_p.L382L|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	616	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAGAGTCTCTGAGATCTTACG	0.498000														90			21		0	0	0.00047179	0	0
MAGI1	9223	broad.mit.edu	37	3	65346891	65346891	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:65346891C>T	uc003dmn.3	-	21	4143	c.3617G>A	c.(3616-3618)gGc>gAc	p.G1206D	MAGI1_uc003dmm.3_Missense_Mutation_p.G1234D|MAGI1_uc003dmo.3_Missense_Mutation_p.G1235D|MAGI1_uc003dmp.3_Missense_Mutation_p.G1139D	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1235	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGTACTGAGCCGTCTCCCCG	0.463000														57			20		0	0	0.00047179	0	0
USP8	9101	broad.mit.edu	37	15	50782635	50782635	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50782635C>T	uc001zym.4	+	14	2647	c.2147C>T	c.(2146-2148)tCc>tTc	p.S716F	USP8_uc001zyl.4_Missense_Mutation_p.S716F|USP8_uc001zyn.4_Missense_Mutation_p.S716F|USP8_uc010ufh.2_Missense_Mutation_p.S610F|USP8_uc001zyp.4_5'Flank	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	716					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTGAAGCGCTCCTACTCCTCC	0.483000														65			19		0	0	0.000586117	0	0
NEK10	152110	broad.mit.edu	37	3	27332781	27332781	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:27332781C>T	uc003cdt.2	-	18	1851	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	NEK10_uc003cds.1_5'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	526	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCTCCACTTCCAAGATGATC	0.403000														64			22		0	0	0.00047179	0	0
TRAIP	10293	broad.mit.edu	37	3	49878431	49878431	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49878431G>A	uc003cxs.1	-	7	798	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TRAIP_uc010hla.1_Intron	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	231	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTTCTGGAGGAAAACAAATC	0.507000											OREG0015575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		192			65		0	0	0.000781405	0	0
NPW	283869	broad.mit.edu	37	16	2070544	2070544	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:2070544G>A	uc002coh.4	+	1	804	c.422G>A	c.(421-423)aGa>aAa	p.R141K	TCRBV20S1_uc021tak.1_Intron	NM_001099456	NP_001092926	Q8N729	NPW_HUMAN	Homo sapiens neuropeptide W (NPW), mRNA.	141					feeding behavior|neuropeptide signaling pathway	extracellular region				kidney(1)	1						AGACTTCGGAGAGACGTCTCC	0.716000														33			9		0	0	0.00136819	0	0
SH3GL3	6457	broad.mit.edu	37	15	84286953	84286953	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:84286953G>A	uc002bjw.3	+	8	1153	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	SH3GL3_uc002bjx.3_Missense_Mutation_p.E251K|SH3GL3_uc002bju.3_Missense_Mutation_p.E328K|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	320	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.E328K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TCAAATAGATGAAAACTGGTA	0.408000														58			12		0	0	0.000978159	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270307	18270307	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:18270307G>A	uc001ipo.2	+	5	1264	c.991G>A	c.(991-993)Gag>Aag	p.E331K	SLC39A12_uc001ipn.2_Missense_Mutation_p.E331K|SLC39A12_uc001ipp.2_Missense_Mutation_p.E331K|SLC39A12_uc010qck.1_Missense_Mutation_p.E197K	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	331					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATTTCTAAGGAGGACTTTAA	0.483000														39			20		0	0	0.00152264	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51917765	51917765	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:51917765C>T	uc002pwo.3	-	8	1842	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	SIGLEC10_uc002pwp.3_Silent_p.K482K|SIGLEC10_uc021uyl.1_Silent_p.K362K|SIGLEC10_uc002pwq.3_Silent_p.K387K|SIGLEC10_uc010ycz.2_Silent_p.K397K|SIGLEC10_uc002pws.2_Silent_p.K297K|SIGLEC10_uc002pwr.3_Silent_p.K445K|SIGLEC10_uc010ycy.2_Silent_p.K355K|SIGLEC10_uc010eow.3_Silent_p.K257K|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	540					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGAGTCCCTTCTTATCTGCAC	0.557000														25			15		0	0	0.000958276	0	0
TSHR	7253	broad.mit.edu	37	14	81606187	81606187	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:81606187T>A	uc001xvd.1	+	8	1013	c.857T>A	c.(856-858)tTt>tAt	p.F286Y		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	286					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGCTGTGCTTTTAAGAATCAG	0.453000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							35			8		0	0	0.000442599	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033525	95033525	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95033525G>A	uc010avd.3	+	2	1253	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	SERPINA4_uc001ydk.3_Missense_Mutation_p.E290K|SERPINA4_uc001ydl.3_Missense_Mutation_p.E290K	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	290					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.E290*(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GAGGGAGATTGAAGAGGTTCT	0.468000														38			7		0	0	0.000274275	0	0
NF1	4763	broad.mit.edu	37	17	29550551	29550551	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:29550551T>A	uc002hgg.3	+	15	2194	c.1811T>A	c.(1810-1812)tTg>tAg	p.L604*	NF1_uc002hgh.3_Nonsense_Mutation_p.L604*|NF1_uc010csn.2_Nonsense_Mutation_p.L464*|NF1_uc002hgi.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	604			L -> V (in NF1).		MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGGGAAATATTGATCTGCAGG	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				29			15		0	0	0.000566183	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526055	68526055	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:68526055C>T	uc009xpn.1	-	8	1371	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	CTNNA3_uc001jmw.2_Silent_p.A416A|CTNNA3_uc001jmx.4_Silent_p.A416A	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	416					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATGAAATATCGCAGCATATT	0.433000														78			16		0	0	0.000566183	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481317	140481317	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140481317G>A	uc003lio.3	+	0	1084	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	362	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACTCGGGAGAGACTGTACT	0.478000														70			21		0	0	0.00188189	0	0
ZNF606	80095	broad.mit.edu	37	19	58491073	58491073	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:58491073G>A	uc002qqw.3	-	6	1593	c.975C>T	c.(973-975)atC>atT	p.I325I	ZNF606_uc010yhp.2_Silent_p.I235I	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCTGGTTAAAGATTTGATGGC	0.318000														55			32		0	0	0.00058488	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2341197	2341197	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:2341197G>A	uc003gex.2	-	3	824	c.504C>T	c.(502-504)ttC>ttT	p.F168F	ZFYVE28_uc011bvk.2_Silent_p.F98F|ZFYVE28_uc011bvl.2_Silent_p.F168F|ZFYVE28_uc003gey.4_Silent_p.F98F|ZFYVE28_uc003gez.3_Silent_p.F121F|ZFYVE28_uc021xkq.1_Silent_p.F168F|ZFYVE28_uc003gew.2_Silent_p.F54F	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	168					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CAAACTCTGCGAACAGGACGT	0.627000														42			5		0	0	0.00198382	0	0
PRKG2	5593	broad.mit.edu	37	4	82064053	82064053	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:82064053C>T	uc003hmh.2	-	9	1315	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	PRKG2_uc011ccf.1_Missense_Mutation_p.M14I|PRKG2_uc011ccg.1_Missense_Mutation_p.M14I|PRKG2_uc011cch.1_Missense_Mutation_p.M434I	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	434					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCAGCTGAATCATTTCCAGAG	0.468000														72			18		0	0	0.000566183	0	0
FAM188B	84182	broad.mit.edu	37	7	30825511	30825511	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:30825511C>T	uc003tbt.3	+	3	643	c.566C>T	c.(565-567)cCt>cTt	p.P189L	FAM188B_uc010kwe.3_Missense_Mutation_p.P160L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	189										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTCGGAGCCTTCCTTGGAT	0.552000														58			25		0	0	0.001512	0	0
MAS1	4142	broad.mit.edu	37	6	160328623	160328623	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:160328623G>A	uc003qsz.3	+	0	650	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	212					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCTTGGTCGTGAAGATCCGGA	0.502000														25			20		0	0	0.00188189	0	0
ARID2	196528	broad.mit.edu	37	12	46244517	46244517	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:46244517C>T	uc001ros.1	+	14	2611	c.2611C>T	c.(2611-2613)Cag>Tag	p.Q871*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q871*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q327*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q498*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q205*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	871	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAGAATTTTCAGGTAGCTAC	0.448000			"""N, S, F"""		hepatocellular carcinoma									36			19		0	0	0.000958276	0	0
PRAM1	84106	broad.mit.edu	37	19	8564018	8564018	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8564018G>A	uc002mkd.3	-	1	737	c.674C>T	c.(673-675)cCc>cTc	p.P225L		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	273	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGGCTTTTTGGGGTACACGTT	0.637000														65			18		0	0	0.000375601	0	0
ABCC9	10060	broad.mit.edu	37	12	22047080	22047080	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:22047080C>T	uc001rfh.3	-	11	1708	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	ABCC9_uc001rfi.1_Missense_Mutation_p.G563E	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	563	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGATTGTTTCCACTGGCATA	0.468000														32			23		0	0	0.000720815	0	0
OR14C36	127066	broad.mit.edu	37	1	248512475	248512475	+	Silent	SNP	C	T	T	rs150366522		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248512475C>T	uc010pzl.2	+	0	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCCTGTGATCGTGAACTCTC	0.507000														33			15		0	0	0.000308642	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28271942	28271942	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:28271942C>T	uc001bpg.3	+	1	452	c.261C>T	c.(259-261)ttC>ttT	p.F87F	SMPDL3B_uc001bpf.3_Silent_p.F87F|SMPDL3B_uc010ofq.2_5'UTR|SMPDL3B_uc010ofr.2_Silent_p.F87F	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	87					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		AGCCAGACTTCATTCTCTGGA	0.552000														33			10		0	0	0.000978159	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554605	44554605	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44554605G>A	uc010xdb.2	-	0	1845	c.1609C>T	c.(1609-1611)Cga>Tga	p.R537*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTGTAGTCTCGAATTGCCTTG	0.602000														495			12		0	0	0.000878237	0	0
DSCAM	1826	broad.mit.edu	37	21	41725476	41725476	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:41725476G>A	uc002yyq.1	-	4	1302	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	284	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCGAGGGGCGAATGTTCTCA	0.542000														59			13		0	0	0.00185496	0	0
PRDM1	639	broad.mit.edu	37	6	106552989	106552989	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:106552989C>T	uc003prd.2	+	4	1188	c.954C>T	c.(952-954)atC>atT	p.I318I	PRDM1_uc003pre.3_Silent_p.I184I	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	318					negative 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(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTACGGGATCGAGAGACCCA	0.607000			"""D, N, Mis, F, S"""		DLBCL									61			38		0	0	0.00111076	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407442	1407442	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:1407442C>T	uc010nct.2	+	5	572	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.R84C|CSF2RA_uc004cpq.2_Missense_Mutation_p.R84C|CSF2RA_uc004cpn.2_Missense_Mutation_p.R84C|CSF2RA_uc004cpo.2_Missense_Mutation_p.R84C|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.R84C|CSF2RA_uc010ncv.2_Missense_Mutation_p.R84C|CSF2RA_uc004cpr.2_Missense_Mutation_p.R84C	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	84						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R84C(5)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GTGCACATTTCGTGAAATTTG	0.428000														396			80		0	0	0.000781405	0	0
NR2C2AP	126382	broad.mit.edu	37	19	19313657	19313657	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:19313657C>T	uc002nlx.3	-	1	441	c.72G>A	c.(70-72)caG>caA	p.Q24Q	NR2C2AP_uc010xqq.1_5'Flank	NM_176880	NP_795361	Q86WQ0	NR2CA_HUMAN	Homo sapiens nuclear receptor 2C2-associated protein (NR2C2AP), mRNA.	24					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			TTTTTCCAAACTGCCGAGTGT	0.562000														97			24		0	0	0.00106085	0	0
TMEM40	55287	broad.mit.edu	37	3	12790229	12790229	+	Missense_Mutation	SNP	C	T	T	rs146477309	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:12790229C>T	uc011auv.1	-	2	351	c.184G>A	c.(184-186)Gag>Aag	p.E62K	TMEM40_uc003bxg.1_Missense_Mutation_p.E46K|TMEM40_uc003bxh.1_Missense_Mutation_p.E46K	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	46	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTGTTTCTCTCATATTGTTCT	0.473000														250			83		0	0	0.000781405	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433934	37433934	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:37433934C>T	uc021ppc.1	+	7	1336	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	ANKRD30A_uc001iza.1_Missense_Mutation_p.P413S	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	469						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCAGAGGTTCCCATCAGAATC	0.249000														73			29		0	0	0.000814825	0	0
GCK	2645	broad.mit.edu	37	7	44228525	44228525	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:44228525C>T	uc003tkl.2	-	0	498	c.28G>A	c.(28-30)Gcc>Acc	p.A10T		NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	10					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.A10V(1)|p.A10A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TTCTTGGCGGCCTCCATCCTG	0.562000														328			49		0	0	0.000781405	0	0
CHCHD2	51142	broad.mit.edu	37	7	56174186	56174187	+	Splice_Site	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:56174186_56174187GG>AA	uc003tsa.3	-	1	1	c.-80_splice	c.e1-1		PSPH_uc003trj.3_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACCGGAAGATGGGAGGCGGGGC	0.614000														21			12		0	0	6.4e-05	0	0
CSMD2	114784	broad.mit.edu	37	1	34190950	34190950	+	Splice_Site	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:34190950T>A	uc001bxm.1	-	17	2872	c.2695_splice	c.e17+1	p.T899_splice	CSMD2_uc001bxn.1_Splice_Site_p.T859_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	859	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAGACTCACTCTCATAGCGG	0.582000														27			16		0	0	0.000566183	0	0
UBC	7316	broad.mit.edu	37	17	21731336	21731336	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:21731336C>T	uc002gyy.3	+	1	763	c.638C>T	c.(637-639)tCc>tTc	p.S213F				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	0	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACTACAACATCCAGAAGGAGT	0.542000														45			23		0	0	0.00127121	0	0
DYTN	391475	broad.mit.edu	37	2	207530676	207530676	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207530676C>T	uc002vbr.1	-	9	1175	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	353						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTTTCAAATCGACAAATTCT	0.393000														65			23		0	0	0.000878237	0	0
C22orf31	25770	broad.mit.edu	37	22	29455002	29455002	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:29455002C>T	uc003aej.1	-	2	728	c.601G>A	c.(601-603)Gac>Aac	p.D201N		NM_015370	NP_056185	O95567	CV031_HUMAN	Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA.	201										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GTTAGCGTGTCCTCCGACAAC	0.592000														109			37		0	0	0.00128727	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998377	92998377	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:92998377G>A	uc022axs.1	-	8	1618	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	RUNX1T1_uc003yfc.2_Silent_p.P391P|RUNX1T1_uc010mam.3_Silent_p.P391P|RUNX1T1_uc003yfe.2_Silent_p.P381P|RUNX1T1_uc003yfd.3_Silent_p.P418P|RUNX1T1_uc022axo.1_Silent_p.P418P|RUNX1T1_uc010mao.3_Silent_p.P391P|RUNX1T1_uc011lgi.2_Silent_p.P429P|RUNX1T1_uc022axp.1_Silent_p.P418P|RUNX1T1_uc022axq.1_Silent_p.P418P|RUNX1T1_uc022axr.1_Silent_p.P418P|RUNX1T1_uc022axt.1_Silent_p.P418P|RUNX1T1_uc022axu.1_Silent_p.P398P|RUNX1T1_uc022axv.1_Silent_p.P418P|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Silent_p.P381P	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	418					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P418P(2)|p.P381P(2)|p.P429P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGGGTTGACGGGACTCTGCT	0.453000														83			13		0	0	0.000422831	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596520	24596521	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:24596520_24596521CC>TT	uc011djo.2	-	2	881_882	c.381_382GG>AA	c.(379-384)tcgggg>tcAAgg	p.G128R	KIAA0319_uc011djp.2_Missense_Mutation_p.G83R|KIAA0319_uc003neh.1_Missense_Mutation_p.G128R|KIAA0319_uc011djq.1_Missense_Mutation_p.G119R|KIAA0319_uc011djr.1_Missense_Mutation_p.G128R	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	128					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						CCCCAGATCCCCGAGGGGGAGC	0.554000														28			13		0	0	6.4e-05	0	0
FBXO28	23219	broad.mit.edu	37	1	224345355	224345355	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:224345355C>T	uc001hoh.2	+	4	1055	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Silent_p.S133S	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	338										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CCTCAGGGTCCGGGCAGAATG	0.458000														99			15		0	0	0.000219431	0	0
NUAK1	9891	broad.mit.edu	37	12	106500239	106500239	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:106500239C>T	uc001tlj.1	-	1	1685	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	102	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTCAATCTCTCGTCTGATGTG	0.343000														20			16		0	0	0.000308642	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367487	234367487	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:234367487G>A	uc001hvy.1	+	3	753	c.608_splice	c.e3+1	p.R203_splice	SLC35F3_uc001hwa.1_Splice_Site_p.R134_splice	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	134					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CAGCGATACAGGTAGGCGCGT	0.602000														72			24		0	0	0.00127121	0	0
ANKRD28	23243	broad.mit.edu	37	3	15717478	15717478	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:15717478G>A	uc003caj.1	-	26	2945	c.2802C>T	c.(2800-2802)gcC>gcT	p.A934A	ANKRD28_uc003cai.1_Silent_p.A780A|ANKRD28_uc011avz.1_Silent_p.A780A|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011avy.1_Silent_p.A14A	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	934						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCCCATTTCGGGCAGCAACAT	0.433000														51			21		0	0	0.00047179	0	0
CFTR	1080	broad.mit.edu	37	7	117307070	117307070	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:117307070C>T	uc003vjd.3	+	26	4483	c.4351C>T	c.(4351-4353)Ccc>Tcc	p.P1451S	CFTR_uc011knq.2_Missense_Mutation_p.P857S	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1451					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAAGCTCTTTCCCCACCGGAA	0.532000									Cystic Fibrosis					14			6		0	0	0.00198382	0	0
GMPS	8833	broad.mit.edu	37	3	155629027	155629027	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:155629027C>T	uc003faq.3	+	6	1180	c.845C>T	c.(844-846)tCt>tTt	p.S282F	GMPS_uc011bom.2_Missense_Mutation_p.S183F	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	282					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAAGCCAGTCTGTTGAAGAG	0.378000			T	MLL	AML									36			12		0	0	0.000978159	0	0
AADAC	13	broad.mit.edu	37	3	151545949	151545949	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:151545949G>A	uc003eze.3	+	4	1279	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	397					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGGCTAAAGGAAAATCTATA	0.303000														19			13		0	0	0.00136819	0	0
TDRD5	163589	broad.mit.edu	37	1	179620193	179620193	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:179620193C>T	uc010pnp.2	+	11	2510	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	TDRD5_uc021pfm.1_Silent_p.I664I|TDRD5_uc001gnf.2_Silent_p.I664I|TDRD5_uc021pfn.1_Silent_p.I664I|TDRD5_uc001gnh.2_Silent_p.I219I	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	664					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGAAAATATCTCTTCTAAGG	0.333000														90			7		0	0	0.000274275	0	0
ZGPAT	84619	broad.mit.edu	37	20	62365021	62365021	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:62365021C>T	uc002ygk.3	+	3	990	c.801C>T	c.(799-801)ccC>ccT	p.P267P	ZGPAT_uc002ygi.2_Silent_p.P267P|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Silent_p.P267P|ZGPAT_uc002ygm.3_Silent_p.P267P|ZGPAT_uc002ygj.2_Silent_p.P267P|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	267					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCATCCTGCCCCCACTGCGCA	0.637000														74			47		0	0	0.000781405	0	0
CSMD1	64478	broad.mit.edu	37	8	2910145	2910145	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:2910145G>A	uc022aqr.1	-	49	7889	c.7499C>T	c.(7498-7500)tCc>tTc	p.S2500F	CSMD1_uc011kwj.2_Missense_Mutation_p.S1830F|CSMD1_uc010lrg.3_Missense_Mutation_p.S569F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2501	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTTCCTGGGGATTCTGGGAT	0.403000														10			12		0	0	0.00185496	0	0
NRG1	3084	broad.mit.edu	37	8	32617801	32617801	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:32617801G>A	uc003xiv.2	+	10	1662	c.1145G>A	c.(1144-1146)aGc>aAc	p.S382N	NRG1_uc022ats.1_Missense_Mutation_p.S332N|NRG1_uc011lbf.1_Missense_Mutation_p.S379N|NRG1_uc010lvo.2_Missense_Mutation_p.S379N|NRG1_uc003xiu.2_Missense_Mutation_p.S387N|NRG1_uc003xiw.2_Missense_Mutation_p.S379N|NRG1_uc003xit.2_Missense_Mutation_p.S382N|NRG1_uc010lvr.2_Missense_Mutation_p.S124N|NRG1_uc010lvs.2_Missense_Mutation_p.S124N|NRG1_uc010lvp.2_Missense_Mutation_p.S336N|NRG1_uc010lvq.2_Missense_Mutation_p.S312N|NRG1_uc011lbg.1_Missense_Mutation_p.S228N|NRG1_uc011lbh.1_Missense_Mutation_p.S225N|NRG1_uc003xja.2_Missense_Mutation_p.S193N	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	382					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.V381I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTAGGCACAGCAGCCCAACT	0.537000														130			8		0	0	0.000274275	0	0
UNC5C	8633	broad.mit.edu	37	4	96137323	96137323	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:96137323C>T	uc003hto.3	-	9	2038	c.1685G>A	c.(1684-1686)gGg>gAg	p.G562E	UNC5C_uc010ilc.2_Missense_Mutation_p.G581E|UNC5C_uc003htq.3_Missense_Mutation_p.G581E	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	562	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.Q561K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTAGACTCTCCCTTGGGGAAT	0.433000														32			8		0	0	0.000978159	0	0
UBR1	197131	broad.mit.edu	37	15	43307948	43307948	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:43307948T>C	uc001zqq.3	-	28	3213	c.3147A>G	c.(3145-3147)aaA>aaG	p.K1049K	UBR1_uc010udk.1_Silent_p.K1049K	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1049					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CATACATGAGTTTATGAGTTT	0.373000														254			48		0	0	0.000781405	0	0
HCN1	348980	broad.mit.edu	37	5	45262164	45262164	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:45262164C>T	uc003jok.3	-	7	2557	c.2532G>A	c.(2530-2532)caG>caA	p.Q844Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	844						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R843R(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCGACGACATCTGTCGGAAGA	0.652000														56			14		0	0	0.000308642	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444303	15444303	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:15444303C>T	uc003gno.3	+	2	1030	c.771C>T	c.(769-771)ttC>ttT	p.F257F	C1QTNF7_uc011bxb.2_Silent_p.F250F|C1QTNF7_uc003gnp.3_Silent_p.F250F	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	250	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TGGAGATTTTCTTCACAGACC	0.483000														75			13		0	0	0.000219431	0	0
FAM114A2	10827	broad.mit.edu	37	5	153407730	153407730	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:153407730G>A	uc003lvd.3	-	6	751	c.609C>T	c.(607-609)aaC>aaT	p.N203N	FAM114A2_uc003lvb.3_Silent_p.N203N|FAM114A2_uc003lve.3_Silent_p.N19N|FAM114A2_uc011dda.2_Silent_p.N133N|FAM114A2_uc003lvc.3_Silent_p.N203N	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA.	203							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TAGCATTTCGGTTCATCAGAC	0.388000														51			6		0	0	0.000157383	0	0
OR4C12	283093	broad.mit.edu	37	11	50004008	50004008	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:50004008G>A	uc010ria.2	-	0	64	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E9K(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTATTAAAATGAATTCAGTCA	0.343000														35			10		0	0	0.00136819	0	0
TSC22D2	9819	broad.mit.edu	37	3	150176403	150176404	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:150176403_150176404CC>AT	uc003exv.3	+	3	2673_2674	c.2323_2324CC>AT	c.(2323-2325)ccg>ATg	p.P775M	TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.P751M	NM_014779	NP_055594	O75157	T22D2_HUMAN	Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.	775							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCCACAGCAGCCGAATGTCTCC	0.470000														47			7		0	0	6.4e-05	0	0
CEP76	79959	broad.mit.edu	37	18	12699154	12699154	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:12699154C>T	uc002kri.3	-	3	500	c.344G>A	c.(343-345)gGa>gAa	p.G115E	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_Nonsense_Mutation_p.W102*	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	115					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAAAGCTTTTCCACCCAAAAC	0.363000														121			19		0	0	0.000375601	0	0
EXT2	2132	broad.mit.edu	37	11	44130795	44130795	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:44130795C>T	uc001mya.3	+	2	743	c.687C>T	c.(685-687)ccC>ccT	p.P229P	EXT2_uc010rfo.2_Silent_p.P224P|EXT2_uc009ykt.3_Silent_p.P196P|EXT2_uc001mxz.3_Silent_p.P196P	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	196					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGGAGGTCCCCCAGATTATA	0.428000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					49			16		0	0	0.00121646	0	0
RWDD3	25950	broad.mit.edu	37	1	95712368	95712368	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:95712368T>G	uc009wdu.3	+	3	822	c.746T>G	c.(745-747)tTt>tGt	p.F249C	RWDD3_uc001drh.4_3'UTR|RWDD3_uc001dri.4_3'UTR|RWDD3_uc001drf.4_3'UTR|RWDD3_uc009wdv.3_Non-coding_Transcript|RWDD3_uc001drg.4_Non-coding_Transcript	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1, mRNA.	249						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		CAAAAGGAATTTGAAACTGCA	0.338000														18			23		0	0	0.000720815	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776915	25776915	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:25776915C>T	uc003nfe.3	+	8	1199	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	SLC17A4_uc011djx.2_Silent_p.I130I|SLC17A4_uc003nff.1_Silent_p.I121I|SLC17A4_uc003nfg.3_Silent_p.I297I|SLC17A4_uc010jqa.3_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	360					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCAGAAAAATCCTCAGACTCA	0.498000														28			12		0	0	0.00136819	0	0
RET	5979	broad.mit.edu	37	10	43613844	43613844	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:43613844C>T	uc001jal.3	+	12	2498	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	RET_uc001jak.1_Nonsense_Mutation_p.R770*|RET_uc010qez.1_Nonsense_Mutation_p.R516*	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	770	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R770*(2)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAGTGAGCTGCGAGACCTGCT	0.562000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					22			7		0	0	0.000157383	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479658	156479658	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156479658G>A	uc010jij.1	-	3	572	c.387C>T	c.(385-387)gtC>gtT	p.V129V	HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Silent_p.V129V|HAVCR1_uc021ygj.1_Silent_p.V129V|HAVCR1_uc021ygk.1_5'UTR|HAVCR1_uc011ddm.2_Silent_p.V129V	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	129					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTAGTCGTGACCTTGGCTG	0.483000														402			90		0	0	0.000781405	0	0
ADAM23	8745	broad.mit.edu	37	2	207460822	207460822	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207460822G>A	uc002vbq.3	+	23	2518	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	ADAM23_uc010ziv.2_Intron	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	765	EGF-like.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCTGGGCAGGGACAGATTGCA	0.433000														36			8		0	0	0.000442599	0	0
GALNT4	8693	broad.mit.edu	37	12	89917128	89917128	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:89917128G>A	uc001tbd.3	-	0	1456	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.P397L|GALNT4_uc010suo.2_Missense_Mutation_p.P228L	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	400					carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TTTTCTTGCTGGAGGGTTTCT	0.423000														66			35		0	0	0.000953801	0	0
SLC13A5	284111	broad.mit.edu	37	17	6609960	6609960	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:6609960C>T	uc002gdj.3	-	3	456	c.368_splice	c.e3+1	p.R123_splice	SLC13A5_uc010clq.3_Splice_Site_p.R80_splice|SLC13A5_uc002gdk.3_Splice_Site_p.R123_splice|SLC13A5_uc010vtf.2_Splice_Site_p.R123_splice|SLC13A5_uc002gdl.1_5'Flank	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	123						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGCGTAATTACCGTGCAGGCT	0.657000														13			4		0	0	0.00024832	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154265	248154265	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248154265G>A	uc001idv.1	+	0	697	c.453G>A	c.(451-453)ggG>ggA	p.G151G	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.									p.G151V(2)		lung(11)	11						CTGCAGAAGGGAGGAAGAAGG	0.478000														47			26		0	0	0.00106085	0	0
PLCD4	84812	broad.mit.edu	37	2	219494318	219494318	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219494318G>A	uc021vwx.1	+	7	1390	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	PLCD4_uc002vik.1_3'UTR|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	351	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGTTTACCACGGACACACCCT	0.607000														35			13		0	0	0.00136819	0	0
RGPD4	285190	broad.mit.edu	37	2	108496519	108496519	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:108496519C>T	uc010ywk.2	+	20	5102	c.5020C>T	c.(5020-5022)Cgg>Tgg	p.R1674W	RGPD4_uc002tdu.3_Missense_Mutation_p.R861W|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1674					intracellular transport		binding	p.R1674L(1)|p.L1673L(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CGGCCTGCTTCGGGAAGCAGA	0.463000														162			57		0	0	0.000781405	0	0
ZNF451	26036	broad.mit.edu	37	6	57006175	57006175	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:57006175C>T	uc003pdm.1	+	7	1002	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	ZNF451_uc003pdl.3_Missense_Mutation_p.L260F|ZNF451_uc003pdn.1_Missense_Mutation_p.L260F|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.L260F	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L260F(3)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAATTGCTTCCTTCTTTTTAG	0.373000														35			11		0	0	0.00185496	0	0
PCDH20	64881	broad.mit.edu	37	13	61986510	61986510	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:61986510C>T	uc001vid.4	-	1	2086	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	PCDH20_uc010thj.2_Silent_p.L574L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	547	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATCAGGTCCCAGAAAATATG	0.433000														45			8		0	0	0.000274275	0	0
TRPM7	54822	broad.mit.edu	37	15	50888556	50888556	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50888556G>A	uc001zyt.4	-	22	3468	c.3186C>T	c.(3184-3186)atC>atT	p.I1062I	TRPM7_uc010bew.2_Silent_p.I1062I	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1062					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGATTTGAGGGATAACAGAAT	0.328000														20			7		0	0	0.00198382	0	0
DUS4L	11062	broad.mit.edu	37	7	107211656	107211656	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:107211656C>T	uc003veh.3	+	3	516	c.183C>T	c.(181-183)gcC>gcT	p.A61A	DUS4L_uc011klw.2_Non-coding_Transcript|DUS4L_uc011klx.2_5'UTR|DUS4L_uc022ajw.1_5'UTR	NM_181581	NP_853559	O95620	DUS4L_HUMAN	Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.	61					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TGATTGTTGCCGCTGATTTTG	0.338000														53			25		0	0	0.000720815	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046866	76046866	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:76046866C>T	uc002jud.2	+	3	2323	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	TNRC6C_uc002juf.2_Missense_Mutation_p.P575S|TNRC6C_uc002jue.2_Missense_Mutation_p.P575S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	575	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGTGAGCCTCCAAAGCCCAA	0.557000														27			13		0	0	0.00185496	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922017	78922017	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:78922017C>T	uc002bed.1	-	4	742	c.630G>A	c.(628-630)agG>agA	p.R210R	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.R28R	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	210					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGTTCACTGTCCTTCTCCCTG	0.552000														109			23		0	0	0.00127121	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173787010	173787010	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:173787010G>A	uc002uhv.4	+	6	705	c.518_splice	c.e6-1	p.R173_splice	RAPGEF4_uc002uhu.2_Splice_Site_p.R173_splice|RAPGEF4_uc002uhw.4_Splice_Site_p.R29_splice|RAPGEF4_uc010zec.1_Splice_Site_p.R20_splice|RAPGEF4_uc010zed.1_Splice_Site_p.R20_splice|RAPGEF4_uc010zee.1_Splice_Site_p.R20_splice|RAPGEF4_uc010fqo.2_Splice_Site_p.R20_splice|RAPGEF4_uc010zef.1_5'UTR	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	173					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|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	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator 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)			CTCCTTTAGGGATTCCTGACA	0.368000														244			73		0	0	0.000781405	0	0
NLRP14	338323	broad.mit.edu	37	11	7070992	7070992	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:7070992G>A	uc001mfb.1	+	5	2537	c.2214G>A	c.(2212-2214)ggG>ggA	p.G738G		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	738					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACCTAAAAGGGAGTGATATAG	0.383000														92			46		0	0	0.000680045	0	0
ABCC9	10060	broad.mit.edu	37	12	21995316	21995316	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:21995316G>A	uc001rfh.3	-	26	3425	c.3405C>T	c.(3403-3405)ttC>ttT	p.F1135F	ABCC9_uc001rfi.1_Silent_p.F1135F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1135	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGCAACCAGGAACACAGGAG	0.448000														26			12		0	0	0.000978159	0	0
GPR116	221395	broad.mit.edu	37	6	46830784	46830784	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:46830784C>T	uc003oyo.3	-	14	2329	c.2040G>A	c.(2038-2040)ggG>ggA	p.G680G	GPR116_uc011dwj.1_Silent_p.G235G|GPR116_uc011dwk.1_Silent_p.G109G|GPR116_uc003oyp.3_Silent_p.G538G|GPR116_uc003oyq.3_Silent_p.G680G|GPR116_uc010jzi.1_Silent_p.G352G	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	680					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGATGACTTTCCCCGGCTCTC	0.498000														20			11		0	0	0.00136819	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516033	138516033	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:138516033C>T	uc010nbd.1	-	4	995	c.741G>A	c.(739-741)ctG>ctA	p.L247L		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	247					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.L247L(2)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAACTCCGTTCAGATATTCTT	0.383000														85			25		0	0	0.000720815	0	0
PNLIP	5406	broad.mit.edu	37	10	118320026	118320026	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:118320026G>A	uc001lcm.3	+	10	1202	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	387	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TAAGCAGTATGAAATTTTCAA	0.383000														31			10		0	0	0.000442599	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710852	14710852	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14710852G>A	uc010dzn.2	+	11	829	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	CLEC17A_uc010dzo.2_Missense_Mutation_p.R251Q|CLEC17A_uc002mzh.2_Missense_Mutation_p.R234Q|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	251						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GACTGCCGCCGAATTACCTGT	0.552000														31			15		0	0	0.000566183	0	0
IL15RA	3601	broad.mit.edu	37	10	6002431	6002431	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:6002431C>T	uc021pmo.1	-	4	754	c.740G>A	c.(739-741)gGa>gAa	p.G247E	IL15RA_uc010qau.2_Missense_Mutation_p.G128E|IL15RA_uc021pmp.1_Missense_Mutation_p.G98E|IL15RA_uc001iiv.3_Missense_Mutation_p.G161E|IL15RA_uc001iiw.3_Missense_Mutation_p.G125E|IL15RA_uc001iiy.3_Missense_Mutation_p.G9E	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	161					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CTCTGTGGTTCCTGTGGAAGG	0.582000														113			53		0	0	0.000781405	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651372	1651372	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:1651372C>T	uc001lty.3	+	0	340	c.302C>T	c.(301-303)tCc>tTc	p.S101F	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	101	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGTCTCCTGTGGGGTG	0.677000														127			29		0	0	0.00178596	0	0
SI	6476	broad.mit.edu	37	3	164700134	164700134	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164700134G>A	uc003fei.3	-	46	5375	c.5312C>T	c.(5311-5313)tCc>tTc	p.S1771F		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1771	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.S1771S(2)		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)	TACATGAAGGGATCCAAGCCT	0.348000										HNSCC(35;0.089)				19			7		0	0	0.00198382	0	0
C11orf42	160298	broad.mit.edu	37	11	6226882	6226882	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:6226882G>A	uc001mcj.3	+	0	85	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	13										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACACTGGATGAAGCTGATGC	0.572000														49			20		0	0	0.00127121	0	0
NLRX1	79671	broad.mit.edu	37	11	119054017	119054017	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:119054017C>T	uc001pvu.3	+	9	3012	c.2797C>T	c.(2797-2799)Ctt>Ttt	p.L933F	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Missense_Mutation_p.L933F|NLRX1_uc001pvx.3_Missense_Mutation_p.L933F|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	933	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCAGCGACACCTTGAGCTCCT	0.617000														52			23		0	0	0.000720815	0	0
FGD5	152273	broad.mit.edu	37	3	14861600	14861600	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:14861600C>T	uc003bzc.3	+	0	1132	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	FGD5_uc011avk.2_Missense_Mutation_p.S341F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	341					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TTCGTGACTTCCCTCACAGGA	0.532000														97			28		0	0	0.001512	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266132	3266132	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:3266132C>T	uc010uwv.2	+	0	571	c.423C>T	c.(421-423)ccC>ccT	p.P141P						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		ACACCATCCCCCACATCTTCT	0.537000														17			8		0	0	0.000442599	0	0
POTEA	340441	broad.mit.edu	37	8	43211928	43211928	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:43211928G>A	uc003xpz.1	+	11	1430	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	POTEA_uc003xqa.1_Missense_Mutation_p.D417N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	463										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAAATCCAGGATGCAGTTAT	0.358000														42			8		0	0	0.00136819	0	0
DACH1	1602	broad.mit.edu	37	13	72053377	72053377	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:72053377C>T	uc021rkj.1	-	7	2223	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	DACH1_uc021rkk.1_Silent_p.L452L|DACH1_uc021rkl.1_Silent_p.L398L	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	650					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AATCCATCTTCAGCTCAGTTT	0.388000														56			22		0	0	0.00152264	0	0
CLMN	79789	broad.mit.edu	37	14	95669315	95669315	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95669315G>A	uc001yef.2	-	8	2487	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	791						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGGCACTGGGGAGGCTCTCT	0.642000														17			4		0	0	0.00198382	0	0
KCNE3	10008	broad.mit.edu	37	11	74168303	74168303	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:74168303C>T	uc021qng.1	-	0	306	c.306G>A	c.(304-306)atG>atA	p.M102I	KCNE3_uc001ovc.3_Missense_Mutation_p.M102I|KCNE3_uc001ovd.2_Missense_Mutation_p.M102I	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	102						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CGTGTTAGATCATAGACACAC	0.552000														14			4		0	0	0.00024832	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42164515	42164515	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:42164515C>T	uc002xkn.1	+	9	1002	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	L3MBTL1_uc010zwh.2_Missense_Mutation_p.P600S|L3MBTL1_uc002xkm.3_Missense_Mutation_p.P532S|L3MBTL1_uc010ggl.3_Missense_Mutation_p.P532S|L3MBTL1_uc002xkl.3_Missense_Mutation_p.P532S|L3MBTL1_uc002xko.3_Missense_Mutation_p.P184S	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	532					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGGGGGCTGTCCCCCTCTCAG	0.612000														76			23		0	0	0.000491102	0	0
FAT3	120114	broad.mit.edu	37	11	92088399	92088399	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92088399C>T	uc001pdj.4	+	0	3138	c.3121C>T	c.(3121-3123)Ccc>Tcc	p.P1041S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1041	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				CCTCCACACTCCCTATTTCCC	0.502000										TCGA Ovarian(4;0.039)				130			76		0	0	0.000781405	0	0
ZG16B	124220	broad.mit.edu	37	16	2881830	2881830	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:2881830G>A	uc002cru.3	+	3	373	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	99						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CCTGGGACGTGAAACTGGGAG	0.567000														23			19		0	0	0.000958276	0	0
KALRN	8997	broad.mit.edu	37	3	124398310	124398310	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:124398310G>A	uc003ehg.3	+	50	7450	c.7323G>A	c.(7321-7323)acG>acA	p.T2441T	KALRN_uc003ehk.3_Silent_p.T744T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2440					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCAAGGAGACGAACAGTTCCG	0.438000														138			62		0	0	0.000781405	0	0
ROBO2	6092	broad.mit.edu	37	3	77607227	77607227	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:77607227G>A	uc011bgk.2	+	9	2019	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	ROBO2_uc021xat.1_Missense_Mutation_p.G471E|ROBO2_uc003dpy.4_Missense_Mutation_p.G455E|ROBO2_uc003dpz.3_Missense_Mutation_p.G459E|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	455	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P459P(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTAAAGGAGGGATTTACTTTT	0.443000														26			7		0	0	0.000274275	0	0
C1orf116	79098	broad.mit.edu	37	1	207198353	207198353	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207198353C>T	uc001hfd.2	-	2	421	c.162G>A	c.(160-162)ctG>ctA	p.L54L	C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	54						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGGTCTCCTCCAGGAAGAGCA	0.622000														31			13		0	0	0.000566183	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725700	140725700	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140725700C>T	uc003ljm.2	+	0	2100	c.2100C>T	c.(2098-2100)gtC>gtT	p.V700V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.V700V	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	701					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCGCGGTCTCCTGCGTCT	0.682000														102			24		0	0	0.00058488	0	0
STEAP3	55240	broad.mit.edu	37	2	120003247	120003247	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:120003247C>T	uc002tlp.3	+	2	332	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	STEAP3_uc002tlq.3_Missense_Mutation_p.R69C|STEAP3_uc002tlr.3_Missense_Mutation_p.R59C|STEAP3_uc010fle.3_Missense_Mutation_p.R59C	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	59					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GGTGGGGAGCCGCAACCCCAA	0.632000														34			18		0	0	0.000958276	0	0
BAI2	576	broad.mit.edu	37	1	32193193	32193193	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:32193193G>A	uc001btn.3	-	32	4940	c.4586C>T	c.(4585-4587)cCt>cTt	p.P1529L	BAI2_uc010ogn.2_Missense_Mutation_p.P499L|BAI2_uc010ogo.2_Missense_Mutation_p.P1119L|BAI2_uc010ogp.2_Missense_Mutation_p.P1462L|BAI2_uc010ogq.2_Missense_Mutation_p.P1495L|BAI2_uc001bto.3_Missense_Mutation_p.P1528L|BAI2_uc001btp.1_3'UTR	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1529					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCGCTCCCCAGGGCTGGGCTT	0.617000														20			9		0	0	0.000442599	0	0
MXRA5	25878	broad.mit.edu	37	X	3241612	3241612	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:3241612C>T	uc004crg.4	-	4	2271	c.2114G>A	c.(2113-2115)gGa>gAa	p.G705E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	705						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCTTCATCTCCCATGCCCGA	0.517000														14			7		0	0	0.000157383	0	0
SEZ6L	23544	broad.mit.edu	37	22	26694974	26694974	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:26694974C>T	uc003acb.3	+	4	1383	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	SEZ6L_uc003acd.3_Missense_Mutation_p.P396L|SEZ6L_uc011akd.2_Missense_Mutation_p.P396L|SEZ6L_uc003ace.3_Missense_Mutation_p.P396L|SEZ6L_uc011akc.2_Missense_Mutation_p.P396L|SEZ6L_uc003acc.3_Missense_Mutation_p.P396L|SEZ6L_uc003acf.1_Missense_Mutation_p.P169L|SEZ6L_uc010gvc.1_Missense_Mutation_p.P169L	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	396	Sushi 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCAACTTTCCCCGCCGGCCT	0.592000														45			15		0	0	0.000958276	0	0
SI	6476	broad.mit.edu	37	3	164724631	164724631	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164724631C>T	uc003fei.3	-	36	4442	c.4379G>A	c.(4378-4380)gGa>gAa	p.G1460E		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1460	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	CTGTGACCATCCATAGAGATT	0.343000										HNSCC(35;0.089)				54			12		0	0	0.00136819	0	0
NETO1	81832	broad.mit.edu	37	18	70461626	70461626	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:70461626C>T	uc002lkw.3	-	4	767	c.483G>A	c.(481-483)aaG>aaA	p.K161K	NETO1_uc002lky.2_Silent_p.K161K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	161					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCCAAGGTCCTTAAAGTCAG	0.294000														145			11		0	0	0.000978159	0	0
OR1N2	138882	broad.mit.edu	37	9	125315566	125315566	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125315566G>A	uc011lyx.2	+	0	118	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTGGCCAGAGGAGCAGCCTCT	0.537000														18			14		0	0	0.00185496	0	0
ADD2	119	broad.mit.edu	37	2	70931582	70931582	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:70931582C>T	uc021vjc.1	-	3	458	c.193G>A	c.(193-195)Gag>Aag	p.E65K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.E65K|ADD2_uc002sgz.3_Missense_Mutation_p.E65K|ADD2_uc010fdt.2_Missense_Mutation_p.E65K|ADD2_uc002shc.2_Missense_Mutation_p.E65K|ADD2_uc010fdu.2_Missense_Mutation_p.E81K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	65					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCCAGCTCCTCCCTGAAAGAC	0.607000														43			8		0	0	0.000274275	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538831	42538831	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:42538831A>T	uc003bci.3	-	2	514	c.133T>A	c.(133-135)Tcc>Acc	p.S45T	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S45T					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						GTGGACACGGAGAAGCGCCTC	0.692000														29			5		0	0	0.00116845	0	0
CXorf22	170063	broad.mit.edu	37	X	35944269	35944269	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:35944269G>A	uc004ddj.3	+	1	451	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	129										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TAAAACAACAGAAATTCCTCT	0.323000														11			8		0	0	0.000157383	0	0
ITGB6	3694	broad.mit.edu	37	2	160958284	160958284	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:160958284C>T	uc002ubh.2	-	14	2345	c.2330G>A	c.(2329-2331)aGg>aAg	p.R777K	ITGB6_uc002ubg.3_5'Flank|ITGB6_uc010fou.2_Missense_Mutation_p.R777K|ITGB6_uc010zcq.1_Missense_Mutation_p.R735K|ITGB6_uc010fov.1_Missense_Mutation_p.R777K	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	777					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTGTTTTTCCCTGTGTTTATA	0.308000														49			12		0	0	0.00185496	0	0
DMRT2	10655	broad.mit.edu	37	9	1057218	1057218	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:1057218C>T	uc003zha.3	+	3	1831	c.1631C>T	c.(1630-1632)tCt>tTt	p.S544F	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.S388F|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.S544F	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	544					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGTCATTTTCTGTTGAGTCT	0.403000														129			40		0	0	0.000589545	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652877	46652877	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:46652877C>T	uc003bhh.3	-	0	6343	c.6343G>A	c.(6343-6345)Gaa>Aaa	p.E2115K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2115					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGTTCCATTCATGCTGACCA	0.443000														45			14		0	0	0.00185496	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29896986	29896986	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:29896986G>A	uc010vec.2	-	7	1538	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.I361I|SEZ6L2_uc002dur.4_Silent_p.I361I|SEZ6L2_uc002duq.4_Silent_p.I431I|SEZ6L2_uc010ved.2_Silent_p.I387I|SEZ6L2_uc002dus.4_Silent_p.I317I	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	431	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCGTCACTGATGAGACCCC	0.592000														41			28		0	0	0.00106085	0	0
ATP2A3	489	broad.mit.edu	37	17	3833709	3833709	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:3833709G>A	uc002fwy.2	-	17	2803	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	ATP2A3_uc010ckn.2_5'UTR|ATP2A3_uc002fwz.2_Missense_Mutation_p.S877F|ATP2A3_uc002fxa.2_Missense_Mutation_p.S877F|ATP2A3_uc002fxb.2_Missense_Mutation_p.S877F|ATP2A3_uc002fxc.2_Missense_Mutation_p.S877F|ATP2A3_uc002fxd.2_Missense_Mutation_p.S877F|ATP2A3_uc002fwx.2_Missense_Mutation_p.S877F	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	877					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GTTGTCTTCGGAGCACTTCAG	0.622000														35			13		0	0	0.000422831	0	0
ASAP3	55616	broad.mit.edu	37	1	23760133	23760133	+	Missense_Mutation	SNP	C	T	T	rs138556791	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:23760133C>T	uc001bha.2	-	19	2129	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	ASAP3_uc001bgy.1_Missense_Mutation_p.E173K|ASAP3_uc010odz.1_Missense_Mutation_p.E538K|ASAP3_uc010oea.1_Missense_Mutation_p.E660K	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	669					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						TCCTCACACTCCTTGTGGTGC	0.547000														73			23		0	0	0.000586117	0	0
COG4	25839	broad.mit.edu	37	16	70557456	70557456	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:70557456C>T	uc002ezc.3	-	1	1	c.-10_splice	c.e1-1		COG4_uc002ezd.3_Splice_Site|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site|SF3B3_uc002ezf.3_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.						Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTCGGCACTTCCGGTCCCGCG	0.582000														37			23		0	0	0.000720815	0	0
TRIM71	131405	broad.mit.edu	37	3	32932358	32932358	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:32932358C>T	uc003cff.3	+	3	1725	c.1662C>T	c.(1660-1662)ccC>ccT	p.P554P		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	554					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTACCGACCCCAGCTGGAGG	0.577000														44			19		0	0	0.00121646	0	0
EML1	2009	broad.mit.edu	37	14	100402664	100402664	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:100402664C>T	uc001ygr.3	+	19	2214	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	EML1_uc010tww.2_Silent_p.I684I|EML1_uc001ygs.3_Silent_p.I696I	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	696						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACTACGAAATCCTCTACTGTG	0.507000														27			11		0	0	0.000308642	0	0
APOM	55937	broad.mit.edu	37	6	31624370	31624370	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:31624370C>A	uc003nvl.3	+	1	309	c.236C>A	c.(235-237)cCg>cAg	p.P79Q	APOM_uc003nvk.3_Missense_Mutation_p.P7Q	NM_019101	NP_061974	O95445	APOM_HUMAN	Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA.	79					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity	p.P79Q(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						GGCTCTGCCCCGATGCAGCTC	0.547000														334			10		0.00136819	0.00643073	0.00136819	1	0
ARPP21	10777	broad.mit.edu	37	3	35781015	35781015	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:35781015C>T	uc011axy.2	+	15	2066	c.1854C>T	c.(1852-1854)gtC>gtT	p.V618V	ARPP21_uc003cga.3_Silent_p.V598V|ARPP21_uc003cgb.3_Silent_p.V617V|ARPP21_uc003cgf.3_Silent_p.V453V|ARPP21_uc003cgg.3_Silent_p.V140V	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	617	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCCAGCAGGTCCTCCAGCCCC	0.602000														41			10		0	0	0.000978159	0	0
TNXB	7148	broad.mit.edu	37	6	32065731	32065731	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32065731G>A	uc003nzl.2	-	1	447	c.245C>T	c.(244-246)tCc>tTc	p.S82F	TNXB_uc010jts.1_Missense_Mutation_p.S81F|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	82					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						ACAGCCAGTGGAAGGGGGCAG	0.612000														139			79		0	0	0.000781405	0	0
REG4	83998	broad.mit.edu	37	1	120337248	120337248	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:120337248C>T	uc001eig.3	-	6	910	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	REG4_uc001eif.3_Missense_Mutation_p.R157Q	NM_001159352	NP_114433	Q9BYZ8	REG4_HUMAN	Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA.	157						extracellular region	sugar binding	p.R157R(1)|p.R157*(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GCTCTATGGTCGGTACTTGCA	0.428000														439			191		0	0	0.000781405	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175689	143175689	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143175689C>T	uc003wdc.1	+	0	724	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	242					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTTCCTCATTCTTTATGCTCT	0.512000														75			10		0	0	0.000978159	0	0
LARS2	23395	broad.mit.edu	37	3	45461192	45461192	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:45461192C>T	uc003cop.1	+	5	672	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	LARS2_uc010hit.1_Missense_Mutation_p.R120C	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	163					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACAGCTTGATCGTCTGGGCCT	0.418000														65			19		0	0	0.00047179	0	0
LGALS4	3960	broad.mit.edu	37	19	39299477	39299477	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:39299477C>T	uc002ojg.3	-	2	460	c.246G>A	c.(244-246)ggG>ggA	p.G82G	LGALS4_uc010xuj.2_Silent_p.G82G	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	82	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding	p.G82R(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGCCCCACTTCCCGCCCTGCA	0.582000														49			30		0	0	0.00209593	0	0
GRID1	2894	broad.mit.edu	37	10	87966146	87966146	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:87966146G>A	uc001kdl.1	-	2	596	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	165						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGAACATGACGAACTTCTGCC	0.617000										Multiple Myeloma(13;0.14)				34			8		0	0	0.000274275	0	0
SIDT1	54847	broad.mit.edu	37	3	113300238	113300238	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:113300238G>A	uc021xcn.1	+	5	1345	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.E232K|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	232						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCACAATGTGGAATTTAATGG	0.453000														58			22		0	0	0.00127121	0	0
XIST	7503	broad.mit.edu	37	X	73063611	73063611	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:73063611C>T	uc004ebm.1	-	0		c.8978G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TAGGTAGGATCCTTATCTAGT	0.403000														22			5		0	0	0.000602214	0	0
CATSPERG	57828	broad.mit.edu	37	19	38848958	38848958	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:38848958C>T	uc002oih.4	+	11	1443	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	CATSPERG_uc002oig.4_Silent_p.F412F|CATSPERG_uc002oif.4_Silent_p.F92F|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	452					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.K452K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCCCAGAATTCATCCCTGAAG	0.562000														44			23		0	0	0.000375601	0	0
PVRL1	5818	broad.mit.edu	37	11	119535808	119535808	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:119535808G>A	uc001pwv.3	-	5	1375	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	401					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGCCTGCCTTGCTGTAGCCGT	0.627000														76			38		0	0	0.000589545	0	0
SSTR1	6751	broad.mit.edu	37	14	38679263	38679263	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:38679263C>T	uc021rsi.1	+	0	669	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SSTR1_uc001wul.1_Silent_p.F223F	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	223					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGGTGGGCTTCGTGTTGTACA	0.607000														53			7		0	0	0.000274275	0	0
KCNB1	3745	broad.mit.edu	37	20	47990589	47990589	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47990589G>A	uc002xur.1	-	1	1674	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	KCNB1_uc002xus.1_Missense_Mutation_p.S503F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	503					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTTTCAAAGGACTTACTTGA	0.428000														157			66		0	0	0.000781405	0	0
CMYA5	202333	broad.mit.edu	37	5	79030637	79030637	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:79030637G>A	uc003kgc.3	+	1	6121	c.6049G>A	c.(6049-6051)Gaa>Aaa	p.E2017K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2017						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)		GATGGAGAGTGAAAGTTTGCT	0.408000														17			5		0	0	0.00116845	0	0
ACE2	59272	broad.mit.edu	37	X	15596283	15596283	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:15596283G>A	uc004cxa.1	-	8	1394	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	ACE2_uc004cxb.2_Missense_Mutation_p.S409L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	409					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TGCAGAAAGTGACATGATTTC	0.413000														17			8		0	0	0.000673444	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689631	150689631	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:150689631C>T	uc001evk.2	-	2	279	c.161G>A	c.(160-162)gGa>gAa	p.G54E	HORMAD1_uc001evl.2_Missense_Mutation_p.G54E|HORMAD1_uc001evm.2_Nonsense_Mutation_p.W4*	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	54	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATATCTTGTTCCATAAGCGCA	0.328000														160			19		0	0	0.000375601	0	0
PDLIM1	9124	broad.mit.edu	37	10	97006972	97006972	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:97006972C>T	uc001kkh.3	-	5	794	c.685_splice	c.e5+1	p.G229_splice		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	229					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		AGCTGATTACCTTTTTCTTCA	0.473000											OREG0020387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			16		0	0	0.000958276	0	0
LRP2	4036	broad.mit.edu	37	2	170037990	170037990	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:170037990G>A	uc002ues.3	-	51	10350	c.10137C>T	c.(10135-10137)ctC>ctT	p.L3379L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3379					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGCCCAGTAGAGTAGATCAT	0.418000														47			18		0	0	0.00188189	0	0
FBXL21	26223	broad.mit.edu	37	5	135276989	135276989	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:135276989G>A	uc021ydv.1	+	7		c.1416G>A			FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTCTTCAAAGAAGAAACCCC	0.398000														64			12		0	0	0.00185496	0	0
PIK3CA	5290	broad.mit.edu	37	3	178937063	178937063	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:178937063C>T	uc003fjk.3	+	10	1901	c.1744C>T	c.(1744-1746)Cag>Tag	p.Q582*		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	582	PI3K helical.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAGTAGCCCAGGTAAATGT	0.333000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				23			8		0	0	0.000157383	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	145013	145013	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:145013C>G	uc003jak.2	+	3	865	c.815C>G	c.(814-816)tCc>tGc	p.S272C		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	272					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGCCGTCTCCCAGGCCCTC	0.622000														39			9		0	0	0.000673444	0	0
ATP6V0B	533	broad.mit.edu	37	1	44442945	44442945	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:44442945C>T	uc001clf.3	+	5	1410	c.507C>T	c.(505-507)ctC>ctT	p.L169L	ATP6V0B_uc001cld.3_Intron|ATP6V0B_uc001cle.3_Intron|B4GALT2_uc001clg.3_5'Flank|B4GALT2_uc001clh.3_5'Flank|B4GALT2_uc010okl.2_5'Flank			Q99437	VATO_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b (ATP6V0B), transcript variant 1, mRNA.	113					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCTTACCCTCCTTCTGGAGA	0.507000														51			8		0	0	0.000157383	0	0
MTF1	4520	broad.mit.edu	37	1	38288307	38288307	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:38288307G>A	uc001cce.1	-	8	1394	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	MTF1_uc009vvj.1_Missense_Mutation_p.S109F	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	418						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAGTGGAAGAGATAAAGATGC	0.517000														116			21		0	0	0.000586117	0	0
ZNF831	128611	broad.mit.edu	37	20	57769282	57769282	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:57769282G>A	uc002yan.3	+	0	3208	c.3208G>A	c.(3208-3210)Ggt>Agt	p.G1070S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1070						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)					GGACATGGAGGGTGACAGCCA	0.622000														18			12		0	0	0.00185496	0	0
TPH1	7166	broad.mit.edu	37	11	18047216	18047216	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18047216G>A	uc001mnp.2	-	6	862	c.836C>T	c.(835-837)cCg>cTg	p.P279L	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	279					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AGCCAAAAGCGGGACATGACC	0.443000														41			21		0	0	0.00188189	0	0
GREB1	9687	broad.mit.edu	37	2	11742591	11742591	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:11742591C>T	uc002rbk.1	+	16	2889	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	GREB1_uc002rbo.1_Silent_p.S497S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	863						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTATTGAATCCACCCTTTCAG	0.443000														177			38		0	0	0.000589545	0	0
RHAG	6005	broad.mit.edu	37	6	49604489	49604489	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:49604489C>T	uc003ozk.4	-	0	99	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	RHAG_uc010jzl.3_Missense_Mutation_p.E13K|RHAG_uc010jzm.3_Missense_Mutation_p.E13K	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	13					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)					ATGGCAATTTCCAGGACTATA	0.443000														52			22		0	0	0.00047179	0	0
LOC440563	440563	broad.mit.edu	37	1	13183479	13183479	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:13183479G>A	uc010obg.2	-	1	637	c.394C>T	c.(394-396)Cct>Tct	p.P132S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	132						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GGAGGAGGAGGAGGTACACGT	0.512000														152			24		0	0	0.00229938	0	0
GPR158	57512	broad.mit.edu	37	10	25887976	25887976	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:25887976G>A	uc001isj.3	+	10	3481	c.3421G>A	c.(3421-3423)Gaa>Aaa	p.E1141K	GPR158_uc001isk.3_Missense_Mutation_p.E516K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1141						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGACACCAGGAAAAAAAGAC	0.453000														41			14		0	0	0.00185496	0	0
KLHL13	90293	broad.mit.edu	37	X	117033149	117033149	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:117033149G>A	uc011mtp.2	-	7	1832	c.1699C>T	c.(1699-1701)Ctt>Ttt	p.L567F	KLHL13_uc004eqk.3_Missense_Mutation_p.L513F|KLHL13_uc004eql.3_Missense_Mutation_p.L564F|KLHL13_uc011mtn.2_Missense_Mutation_p.L404F|KLHL13_uc011mto.2_Missense_Mutation_p.L558F|KLHL13_uc011mtq.2_Missense_Mutation_p.L548F|KLHL13_uc004eqm.3_Missense_Mutation_p.L522F|KLHL13_uc022cde.1_Missense_Mutation_p.L548F	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	564					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CACTGGTCAAGGATAGGTGAA	0.453000														25			14		0	0	0.000219431	0	0
DNAH7	56171	broad.mit.edu	37	2	196729347	196729348	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196729347_196729348CC>TT	uc002utj.4	-	40	7132_7133	c.7031_7032GG>AA	c.(7030-7032)ggg>gAA	p.G2344E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2344	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCTTCCACTCCCTCCAACCCC	0.475000														29			10		0	0	6.4e-05	0	0
HCN4	10021	broad.mit.edu	37	15	73615572	73615572	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:73615572G>A	uc002avp.3	-	7	3856	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	954	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGTGCTCCGGGAGTCCCAGGC	0.741000														20			5		0	0	0.000602214	0	0
HGFAC	3083	broad.mit.edu	37	4	3445868	3445869	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:3445868_3445869CC>TT	uc003ghc.3	+	4	581_582	c.578_579CC>TT	c.(577-579)acc>aTT	p.T193I	HGFAC_uc010icw.3_Missense_Mutation_p.T193I	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	193	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGGGCCTTCACCGGCAAGGACT	0.693000														6			4		0	0	6.4e-05	0	0
MCM3AP	8888	broad.mit.edu	37	21	47678887	47678887	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:47678887G>A	uc002zir.1	-	15	3736	c.3700C>T	c.(3700-3702)Cag>Tag	p.Q1234*	MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Nonsense_Mutation_p.Q161*	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1234					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGAAGCTCCTGGAGGGTCTCC	0.507000														93			15		0	0	0.00074312	0	0
OR10H2	26538	broad.mit.edu	37	19	15839162	15839162	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:15839162C>T	uc002nbm.2	+	0	329	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					AGATGTTCTTCTCCTTCAGCT	0.617000														25			10		0	0	0.00074312	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733161	56733161	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56733161G>A	uc002qmq.3	-	4	1440	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.S308F|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.S425F|ZSCAN5A_uc002qms.1_Missense_Mutation_p.S424F	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	425					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTTCAAGTAGGACTTCTGGGT	0.527000														24			11		0	0	0.00185496	0	0
PRR14L	253143	broad.mit.edu	37	22	32108135	32108135	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:32108135G>A	uc003alp.4	-	3	5883	c.5690C>T	c.(5689-5691)tCc>tTc	p.S1897F	PRR14L_uc003alo.2_Missense_Mutation_p.S1696F|PRR14L_uc010gwj.1_Missense_Mutation_p.S1696F	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	1897										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GATTTCGAAGGAGCAGACAGA	0.527000														87			24		0	0	0.00047179	0	0
EPHA6	285220	broad.mit.edu	37	3	96706580	96706580	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:96706580G>A	uc010how.1	+	2	900	c.857G>A	c.(856-858)gGg>gAg	p.G286E	EPHA6_uc003drp.1_Missense_Mutation_p.G286E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	191						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAAGACATTGGGGCGTGCATT	0.458000														126			59		0	0	0.000781405	0	0
SSTR1	6751	broad.mit.edu	37	14	38679758	38679758	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:38679758C>T	uc021rsi.1	+	0	1164	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	SSTR1_uc001wul.1_Silent_p.I388I	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	388					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CGTCCCGGATCACGACGCTCT	0.667000														26			5		0	0	0.00116845	0	0
CSMD1	64478	broad.mit.edu	37	8	2820047	2820047	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:2820047G>A	uc022aqr.1	-	60	9959	c.9569C>T	c.(9568-9570)tCc>tTc	p.S3190F	CSMD1_uc011kwj.2_Missense_Mutation_p.S2520F|CSMD1_uc010lrg.3_Missense_Mutation_p.S1082F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3191	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTCTGGAGGATCCCACGAG	0.502000														45			6		0	0	0.00198382	0	0
TMEM176B	28959	broad.mit.edu	37	7	150489175	150489175	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150489175C>T	uc022apx.1	-	4	815	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	TMEM176B_uc003whu.4_Missense_Mutation_p.R230Q|TMEM176B_uc003whv.4_Missense_Mutation_p.R193Q|TMEM176B_uc003whw.4_Missense_Mutation_p.R230Q	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	230					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.R230Q(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACAAGTTTCGAAGACCTAC	0.567000														37			6		0	0	0.00198382	0	0
ZNF716	441234	broad.mit.edu	37	7	57528830	57528830	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:57528830C>T	uc011kdi.1	+	3	775	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GTGGCAAATCCTTTAACTGCT	0.383000														5			4		0	0	0.00024832	0	0
RBBP6	5930	broad.mit.edu	37	16	24580206	24580206	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:24580206C>T	uc002dmh.3	+	16	3235	c.2195C>T	c.(2194-2196)cCa>cTa	p.P732L	RBBP6_uc010vcb.1_Missense_Mutation_p.P599L|RBBP6_uc002dmi.3_Missense_Mutation_p.P698L|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P565L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGGTCACCTCCATACCCCAGA	0.473000														44			15		0	0	0.000566183	0	0
CCDC83	220047	broad.mit.edu	37	11	85593684	85593684	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:85593684G>A	uc001pbg.1	+	3	821	c.309G>A	c.(307-309)tgG>tgA	p.W103*	CCDC83_uc001pbh.1_Nonsense_Mutation_p.W103*|CCDC83_uc001pbj.1_Nonsense_Mutation_p.W60*|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	103										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGAAAAATGGAAGTTTGAAA	0.383000														38			27		0	0	0.00127121	0	0
SRCAP	10847	broad.mit.edu	37	16	30748566	30748566	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:30748566C>G	uc002dze.1	+	33	7590	c.7205C>G	c.(7204-7206)gCc>gGc	p.A2402G	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A2197G	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2402					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTTCGTGGAGCCCGGGCTGAG	0.632000														39			12		0	0	0.000978159	0	0
ACSL1	2180	broad.mit.edu	37	4	185724548	185724548	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:185724548T>G	uc003iww.2	-	1	415	c.121A>C	c.(121-123)Acc>Ccc	p.T41P	ACSL1_uc011ckm.1_5'UTR|ACSL1_uc003iwt.1_Missense_Mutation_p.T41P|ACSL1_uc003iwu.1_Missense_Mutation_p.T41P|ACSL1_uc011ckn.1_Missense_Mutation_p.T41P	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	41					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TACCAGAAGGTGGTGAGTGCT	0.592000														19			5		0	0	0.00116845	0	0
DMRT2	10655	broad.mit.edu	37	9	1053734	1053734	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:1053734C>T	uc003zha.3	+	2	738	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	DMRT2_uc003zhb.4_Missense_Mutation_p.L180F|DMRT2_uc003zgy.4_Missense_Mutation_p.L24F|DMRT2_uc011llt.2_Missense_Mutation_p.L180F|DMRT2_uc022bcw.1_Missense_Mutation_p.L180F|DMRT2_uc011llv.2_Missense_Mutation_p.L180F	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	180					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CAAGAAGGGGCTTTCCGGGAA	0.473000														104			35		0	0	0.00170553	0	0
MEN1	4221	broad.mit.edu	37	11	64575105	64575105	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:64575105C>T	uc001obj.3	-	3	790	c.717G>A	c.(715-717)atG>atA	p.M239I	MEN1_uc001obk.3_Missense_Mutation_p.M239I|MEN1_uc001obl.3_Missense_Mutation_p.M199I|MEN1_uc001obm.3_Missense_Mutation_p.M234I|MEN1_uc001obn.3_Missense_Mutation_p.M239I|MEN1_uc001obo.3_Missense_Mutation_p.M239I|MEN1_uc001obq.3_Missense_Mutation_p.M239I|MEN1_uc001obr.3_Missense_Mutation_p.M239I	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	239	Interaction with FANCD2.				DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ACGCCACCTCCATCTTGCGGT	0.567000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					88			49		0	0	0.000781405	0	0
ZNF248	57209	broad.mit.edu	37	10	38121341	38121341	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:38121341G>A	uc001izd.1	-	5	1441	c.942C>T	c.(940-942)atC>atT	p.I314I	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.I314I	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTCCCTGATGGATAATGAAAG	0.363000														45			19		0	0	0.00152264	0	0
CHAT	1103	broad.mit.edu	37	10	50854598	50854598	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:50854598C>T	uc001jhz.2	+	7	1312	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	CHAT_uc001jhv.1_Missense_Mutation_p.L269F|CHAT_uc001jhx.1_Missense_Mutation_p.L269F|CHAT_uc001jhy.1_Missense_Mutation_p.L269F|CHAT_uc001jia.2_Missense_Mutation_p.L305F|CHAT_uc010qgs.1_Missense_Mutation_p.L269F	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	387					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTGCATCTGCCTTGTATGCCT	0.647000														87			17		0	0	0.00121646	0	0
SLIT3	6586	broad.mit.edu	37	5	168233455	168233455	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:168233455C>T	uc010jjg.3	-	8	1351	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	SLIT3_uc003mab.3_Missense_Mutation_p.E311K|SLIT3_uc010jji.2_Missense_Mutation_p.E311K|SLIT3_uc003mac.1_Missense_Mutation_p.E108K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	311					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTACATTTCGACGATGCCC	0.582000														50			9		0	0	0.000673444	0	0
PLVAP	83483	broad.mit.edu	37	19	17488043	17488043	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17488043G>A	uc002ngk.1	-	0	95	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	19						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCAGCCCCGAGAGCTGCCC	0.622000														92			28		0	0	0.00058488	0	0
APOB	338	broad.mit.edu	37	2	21228894	21228894	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:21228894G>A	uc002red.3	-	25	10974	c.10846C>T	c.(10846-10848)Ctt>Ttt	p.L3616F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3616					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCTGGCCAAGGTCAGGGAAA	0.493000														178			37		0	0	0.00111076	0	0
ATRN	8455	broad.mit.edu	37	20	3565495	3565495	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:3565495G>A	uc002wim.2	+	17	3242	c.3152G>A	c.(3151-3153)aGc>aAc	p.S1051N	ATRN_uc002wil.2_Missense_Mutation_p.S1051N|ATRN_uc021vzz.1_Missense_Mutation_p.S935N	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	1051	PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTAGAGGACAGCAGATACAAC	0.433000														65			22		0	0	0.000586117	0	0
OR2M5	127059	broad.mit.edu	37	1	248308965	248308965	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248308965G>A	uc010pze.2	+	0	516	c.516G>A	c.(514-516)cgG>cgA	p.R172R		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172W(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTGGGTCTCGGGAAATAGCCC	0.428000														132			17		0	0	0.00152264	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684702	108684702	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:108684702G>A	uc022cch.1	-	5	1664	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.R527C	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	527					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACACTGGCACGACTTCCTCTC	0.408000														64			43		0	0	0.000781405	0	0
NOC3L	64318	broad.mit.edu	37	10	96097619	96097619	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96097619G>A	uc001kjq.1	-	18	2192	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	702						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGCACTATGGGATGATAATGC	0.433000														67			15		0	0	0.000958276	0	0
C8orf34	116328	broad.mit.edu	37	8	69621251	69621251	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:69621251G>A	uc010lyz.3	+	8	1555	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	C8orf34_uc003xyb.3_Missense_Mutation_p.E311K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	336					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAACCTGGAAGAAAGGACAGA	0.348000														13			6		0	0	0.00198382	0	0
KLF7	8609	broad.mit.edu	37	2	207988766	207988766	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207988766G>A	uc002vbz.1	-	1	787	c.465C>T	c.(463-465)ctC>ctT	p.L155L	KLF7_uc002vca.1_Silent_p.L155L|KLF7_uc010zix.1_Silent_p.L127L	NM_003709	NP_003700	O75840	KLF7_HUMAN	Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA.	155					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CCACGGCAGAGAGAGTTTGTG	0.597000														61			14		0	0	0.00074312	0	0
TMC5	79838	broad.mit.edu	37	16	19451758	19451758	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:19451758G>A	uc002dgc.4	+	2	1147	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	TMC5_uc010vaq.2_Missense_Mutation_p.R133Q|TMC5_uc002dgb.4_Missense_Mutation_p.R133Q|TMC5_uc010var.2_Missense_Mutation_p.R133Q	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	133						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						GGATCTCAACGAAATCCTGAT	0.498000														118			26		0	0	0.00106085	0	0
HMCN1	83872	broad.mit.edu	37	1	185987463	185987463	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:185987463G>A	uc001grq.1	+	33	5678	c.5449G>A	c.(5449-5451)Gaa>Aaa	p.E1817K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1817	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACAAGAAGGAATTTGAAGT	0.388000														48			17		0	0	0.00074312	0	0
LY6E	4061	broad.mit.edu	37	8	144102305	144102305	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:144102305G>A	uc003yxn.2	+	2	103	c.-51_splice	c.e2-1		LOC100133669_uc011ljz.1_5'Flank|LOC100133669_uc003yxl.4_5'Flank|LY6E_uc003yxm.2_5'UTR|LY6E_uc003yxo.2_Non-coding_Transcript	NM_001127213	NP_002337	Q16553	LY6E_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus E (LY6E), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCAGAGCAGGACAGGCTGCT	0.597000														26			6		0	0	0.00116845	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412315	105412316	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:105412315_105412316GG>AA	uc010axc.1	-	6	9592_9593	c.9472_9473CC>TT	c.(9472-9474)cca>TTa	p.P3158L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3058L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3158						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGACTTGCCTGGGGCAGACACC	0.589000														125			71		0	0	6.4e-05	0	0
AP3B2	8120	broad.mit.edu	37	15	83346056	83346056	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:83346056T>C	uc010uoi.2	-	12	1635	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K	AP3B2_uc010uoh.2_Silent_p.K486K|AP3B2_uc010uoj.2_Silent_p.K454K|AP3B2_uc010uog.2_Silent_p.K122K	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	486					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|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)			TTGCCAAGTGTTTGATGATCT	0.438000														31			8		0	0	0.000673444	0	0
PAX3	5077	broad.mit.edu	37	2	223086015	223086015	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:223086015G>A	uc010fwo.3	-	5	1265	c.884C>T	c.(883-885)cCt>cTt	p.P295L	PAX3_uc002vmt.2_Missense_Mutation_p.P295L|PAX3_uc002vmy.2_Missense_Mutation_p.P294L|PAX3_uc002vmv.2_Missense_Mutation_p.P295L|PAX3_uc002vmw.2_Missense_Mutation_p.P295L|PAX3_uc002vmx.2_Missense_Mutation_p.P295L	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	295					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGTGGGAGGGAACCCCCC	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome							123			43		0	0	0.000509022	0	0
SP100	6672	broad.mit.edu	37	2	231380144	231380144	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:231380144C>T	uc002vqt.3	+	24	2570	c.2429C>T	c.(2428-2430)aCc>aTc	p.T810I	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	810					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	p.T810T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAATAACACCGCTGCAGCT	0.428000														41			14		0	0	0.000422831	0	0
FAM188B	84182	broad.mit.edu	37	7	30825503	30825503	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:30825503C>A	uc003tbt.3	+	3	635	c.558C>A	c.(556-558)caC>caA	p.H186Q	FAM188B_uc010kwe.3_Missense_Mutation_p.H157Q	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	186										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAAGCTTCACTCGGAGCCTT	0.537000														60			26		1.06801e-11	5.08974e-11	0.00178596	1	0
RSPO2	340419	broad.mit.edu	37	8	108913395	108913395	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:108913395C>T	uc003yms.3	-	5	1298	c.640G>A	c.(640-642)Gag>Aag	p.E214K	RSPO2_uc003ymq.3_Missense_Mutation_p.E147K|RSPO2_uc003ymr.3_Missense_Mutation_p.E150K	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	214					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ttcctcttctccttcgccttT	0.423000														17			9		0	0	0.000442599	0	0
C20orf194	25943	broad.mit.edu	37	20	3277588	3277588	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:3277588G>A	uc002wii.2	-	22	1989	c.1938C>T	c.(1936-1938)tcC>tcT	p.S646S	C20orf194_uc002wij.3_Silent_p.S385S|C20orf194_uc002wik.2_Silent_p.S320S	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	646										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GTTTCCAGAGGGAGAAGACCT	0.398000														176			55		0	0	0.000781405	0	0
ZNF208	7757	broad.mit.edu	37	19	22154164	22154164	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22154164G>A	uc021urr.1	-	3	3821	c.3672C>T	c.(3670-3672)ccC>ccT	p.P1224P	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.P1096P(2)|p.P1224P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTC	0.383000														31			4		0	0	0.00024832	0	0
PSMD5	5711	broad.mit.edu	37	9	123591436	123591436	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:123591436G>A	uc004bko.3	-	4	631	c.612C>T	c.(610-612)acC>acT	p.T204T	PSMD5_uc011lye.2_Silent_p.T161T	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	204					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						ATCCACTTGTGGTACAGTAGT	0.383000														59			41		0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152573980	152573980	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152573980C>T	uc021vrb.1	-	7	801	c.772G>A	c.(772-774)Gat>Aat	p.D258N	NEB_uc002txu.3_Missense_Mutation_p.D258N|NEB_uc021vrc.1_Missense_Mutation_p.D258N|NEB_uc010fnx.3_Missense_Mutation_p.D258N|NEB_uc021vrd.1_Missense_Mutation_p.D258N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	258					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGGAGGATCAGCCAGAGGC	0.403000														51			7		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179535832	179535832	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179535832C>T	uc021vsy.1	-	150	31615	c.31390G>A	c.(31390-31392)Gag>Aag	p.E10464K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E7125K|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11391	Glu-rich.|Pro-rich.						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)			GCTGGTGGCTCTTTTCGAGGA	0.363000														29			13		0	0	0.000422831	0	0
PSD	5662	broad.mit.edu	37	10	104175873	104175873	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:104175873C>T	uc001kvg.1	-	2	1185	c.658G>A	c.(658-660)Gat>Aat	p.D220N	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.D220N	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	220					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)		GACCAGGTATCCCCCTGAGCC	0.527000														16			4		0	0	0.000602214	0	0
INHBA	3624	broad.mit.edu	37	7	41729736	41729736	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:41729736C>T	uc003thq.3	-	1	1028	c.793G>A	c.(793-795)Gag>Aag	p.E265K	INHBA_uc003thr.3_Missense_Mutation_p.E265K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	265					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.E264*(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						tccccctcctcttctttcttc	0.592000										TSP Lung(11;0.080)				26			7		0	0	0.00198382	0	0
HCFC1	3054	broad.mit.edu	37	X	153222148	153222148	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153222148G>A	uc004fjp.3	-	14	3091	c.2563C>T	c.(2563-2565)Cgc>Tgc	p.R855C		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	855	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGACCAGGCGAACACCCCCC	0.642000														26			19		0	0	0.000375601	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210914	35210914	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:35210914G>A	uc003okf.1	+	14	1816	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	SCUBE3_uc003okg.1_Missense_Mutation_p.D603N|SCUBE3_uc003okh.1_Missense_Mutation_p.D491N	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	604					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GGCAGGCCTTGATTATGAGCT	0.637000														45			37		0	0	0.00195071	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458006	42458006	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:42458006G>A	uc002igt.1	-	13	1433	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	467					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.I467I(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AAGCTCCCACGATCAGGTCTA	0.602000														36			19		0	0	0.000878237	0	0
COL6A6	131873	broad.mit.edu	37	3	130292986	130292986	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130292986G>A	uc010htl.3	+	6	3195	c.3164G>A	c.(3163-3165)gGa>gAa	p.G1055E		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1055	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTTCCACTGGGAACTTTCATA	0.453000														29			7		0	0	0.00198382	0	0
TG	7038	broad.mit.edu	37	8	134042252	134042252	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:134042252G>A	uc003ytw.3	+	40	7264	c.7223G>A	c.(7222-7224)cGg>cAg	p.R2408Q	TG_uc010mdw.3_Missense_Mutation_p.R1167Q|TG_uc011ljb.2_Missense_Mutation_p.R777Q|TG_uc011ljc.2_Missense_Mutation_p.R541Q	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2408					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAACTTTTCCGGAGAGCTGTG	0.607000														77			18		0	0	0.00229938	0	0
ATL2	64225	broad.mit.edu	37	2	38546143	38546143	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:38546143C>A	uc002rqq.3	-	2	412	c.382G>T	c.(382-384)Ggt>Tgt	p.G128C	ATL2_uc010ynm.2_Missense_Mutation_p.G110C|ATL2_uc010ynn.2_Missense_Mutation_p.G110C|ATL2_uc010yno.2_5'UTR|ATL2_uc002rqr.3_5'UTR|ATL2_uc002rqs.3_Missense_Mutation_p.G128C	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 2, mRNA.	128					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTGTTTCCACCAATCCAACTT	0.343000														408			10		0.000308642	0.00145926	0.000308642	1	0
FAM83C	128876	broad.mit.edu	37	20	33875448	33875448	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:33875448G>A	uc021wck.1	-	3	1252	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	378										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCAGGGACGAGGACACCACAC	0.632000														33			7		0	0	0.000274275	0	0
FBN2	2201	broad.mit.edu	37	5	127681084	127681084	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:127681084C>T	uc003kuu.3	-	23	3621	c.3182G>A	c.(3181-3183)cGa>cAa	p.R1061Q	FBN2_uc003kuv.2_Missense_Mutation_p.R1028Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1061					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACATCCCCTCGGTTAGCAAA	0.607000														89			19		0	0	0.000586117	0	0
NTM	50863	broad.mit.edu	37	11	132016308	132016308	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:132016308C>T	uc010sci.2	+	2	631	c.300C>T	c.(298-300)atC>atT	p.I100I	NTM_uc001qgm.3_Silent_p.I100I|NTM_uc010sch.2_Silent_p.I91I|NTM_uc010scj.2_Silent_p.I59I|NTM_uc001qgo.3_Silent_p.I100I|NTM_uc001qgq.3_Silent_p.I100I|NTM_uc001qgp.3_Silent_p.I100I	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	100	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTACAGCATCGAGATCCAGA	0.557000														30			13		0	0	0.00136819	0	0
APBB1IP	54518	broad.mit.edu	37	10	26792173	26792173	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:26792173G>A	uc001iss.3	+	5	822	c.501G>A	c.(499-501)ctG>ctA	p.L167L	APBB1IP_uc009xks.1_Silent_p.L167L	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	167					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGCTGGCGCTGGAAAAACTGA	0.413000														78			9		0	0	0.000274275	0	0
ANPEP	290	broad.mit.edu	37	15	90344717	90344717	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:90344717T>C	uc002bop.4	-	10	1983	c.1691A>G	c.(1690-1692)gAg>gGg	p.E564G		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	564	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|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)	GAGGAAGTGCTCCTGGGAAAG	0.607000														53			9		0	0	0.000442599	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056964	102056964	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:102056964G>A	uc001kqx.1	-	6	1340	c.957_splice	c.e6-1	p.R319_splice	PKD2L1_uc009xwm.1_Splice_Site_p.R272_splice	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	319					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCACCACCAGCCTATAGGGG	0.582000														28			9		0	0	0.000274275	0	0
KCNK16	83795	broad.mit.edu	37	6	39286889	39286889	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:39286889C>T	uc003oor.4	-	1	248	c.234G>A	c.(232-234)gtG>gtA	p.V78V	KCNK16_uc003ooq.3_Silent_p.V78V|KCNK16_uc010jwy.3_Silent_p.V78V|KCNK16_uc011dtz.1_Silent_p.V78V	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	78						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCACACCTTTCACCCAGGCTT	0.537000														37			22		0	0	0.000878237	0	0
LRP2	4036	broad.mit.edu	37	2	170012891	170012891	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:170012891C>T	uc002ues.3	-	64	12257	c.12044G>A	c.(12043-12045)gGg>gAg	p.G4015E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4015	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGGACAAGTCCCAAATTGTTC	0.433000														51			18		0	0	0.000958276	0	0
SEMA3D	223117	broad.mit.edu	37	7	84685101	84685101	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:84685101G>A	uc003uic.3	-	6	833	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	SEMA3D_uc010led.3_Missense_Mutation_p.R265C|SEMA3D_uc010lee.1_Missense_Mutation_p.R265C	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	265	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GATGATTCACGAAAGAAGAAA	0.318000														64			21		0	0	0.00188189	0	0
MYO6	4646	broad.mit.edu	37	6	76558187	76558187	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:76558187G>A	uc003pih.1	+	10	1296	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	MYO6_uc003pig.1_Silent_p.R339R|MYO6_uc003pii.1_Silent_p.R339R	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	339	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.R339R(2)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATCTCTTCCGGGTAGTAGCTG	0.373000														69			25		0	0	0.000720815	0	0
MMP16	4325	broad.mit.edu	37	8	89058940	89058940	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:89058940C>T	uc003yeb.4	-	8	1728	c.1446G>A	c.(1444-1446)ggG>ggA	p.G482G		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	482	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATTCAGGGATCCCTTTCCAGA	0.378000														60			9		0	0	0.000978159	0	0
DOCK2	1794	broad.mit.edu	37	5	169122834	169122834	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:169122834G>A	uc003maf.3	+	9	951	c.871G>A	c.(871-873)Gat>Aat	p.D291N	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	291					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCAACAGGGATAAAATTTA	0.448000														53			9		0	0	0.000673444	0	0
IQCF3	401067	broad.mit.edu	37	3	51864774	51864774	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51864774C>T	uc021wyy.1	+	6	1210	c.422C>T	c.(421-423)cCt>cTt	p.P141L	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.P141L	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	141										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TATGCAATCCCTTCAAAGCAG	0.488000														46			22		0	0	0.000720815	0	0
PELI1	57162	broad.mit.edu	37	2	64327602	64327602	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:64327602G>A	uc002scs.4	-	2	4272	c.233C>T	c.(232-234)tCa>tTa	p.S78L	PELI1_uc002sct.4_Missense_Mutation_p.S78L|PELI1_uc002scr.4_5'Flank	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	78					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TAAAGTATATGATATGCTATG	0.333000														88			47		0	0	0.000781405	0	0
MYO3A	53904	broad.mit.edu	37	10	26500800	26500800	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:26500800G>A	uc001isn.2	+	34	5119	c.4759G>A	c.(4759-4761)Gag>Aag	p.E1587K	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G602E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1587					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CCCCGAGAAGGAGGAGGAGAG	0.642000														34			10		0	0	0.000978159	0	0
XPR1	9213	broad.mit.edu	37	1	180849408	180849408	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:180849408C>T	uc001goi.3	+	13	2197	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L	XPR1_uc009wxn.3_Silent_p.L604L	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	669						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GAGCATATCCCTGCGCCGGCC	0.488000														46			24		0	0	0.00127121	0	0
AFF3	3899	broad.mit.edu	37	2	100185362	100185362	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:100185362A>T	uc002taf.3	-	17	3153	c.3009T>A	c.(3007-3009)gaT>gaA	p.D1003E	AFF3_uc002tag.3_Missense_Mutation_p.D978E	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	978					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCATAAAATAATCGGCACTGC	0.373000														118			34		0	0	0.000491102	0	0
PPP4R1	9989	broad.mit.edu	37	18	9557371	9557371	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:9557371G>A	uc002koe.1	-	14	2156	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	PPP4R1_uc002kof.2_Nonsense_Mutation_p.R97*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.R526*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.R663*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	680					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AGAGTTCGTCGAACTTTCCAC	0.358000														84			32		0	0	0.001512	0	0
FAM217B	63939	broad.mit.edu	37	20	58519530	58519530	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:58519530C>T	uc021wft.1	+	0	532	c.532C>T	c.(532-534)Ctt>Ttt	p.L178F	FAM217B_uc002yba.3_Missense_Mutation_p.L178F|FAM217B_uc002ybc.3_Missense_Mutation_p.L178F|FAM217B_uc010zzx.2_Missense_Mutation_p.L21F	NM_001190827	NP_001177756	Q9NTX9	CT177_HUMAN	Homo sapiens chromosome 20 open reading frame 177 (C20orf177), transcript variant 3, mRNA.	178																	GGGAGGACTTCTTGGGAAGTA	0.532000														43			20		0	0	0.000586117	0	0
LINC00207	388910	broad.mit.edu	37	22	44966433	44966433	+	RNA	SNP	A	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:44966433A>C	uc011aqg.2	+	2		c.223A>C			LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.											lung(3)	3						GGATCCAATCACTGAACCAGA	0.483000														34			14		0	0	0.000566183	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47626796	47626796	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47626796C>T	uc002xtx.4	+	26	3764	c.3612C>T	c.(3610-3612)atC>atT	p.I1204I	ARFGEF2_uc010zyf.2_Silent_p.I497I	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1204					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	p.A1203V(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATGGCGATCCGCTGCATTG	0.542000														79			31		0	0	0.00178596	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552724	43552724	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:43552724G>A	uc002ija.3	-	3	835	c.665C>T	c.(664-666)tCc>tTc	p.S222F	PLEKHM1_uc010wjm.2_Missense_Mutation_p.S194F|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S171F	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	222					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ATGGGAAATGGAATCCAGAGA	0.557000														29			16		0	0	0.000566183	0	0
GRM3	2913	broad.mit.edu	37	7	86479764	86479764	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:86479764C>T	uc003uid.3	+	4	3569	c.2470C>T	c.(2470-2472)Cac>Tac	p.H824Y	GRM3_uc010lef.3_Missense_Mutation_p.S466L|GRM3_uc010leg.3_Missense_Mutation_p.H696Y|GRM3_uc010leh.3_Missense_Mutation_p.H416Y	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	824					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACCCAAGGTTCACATCATCCT	0.493000														21			11		0	0	0.000673444	0	0
A4GALT	53947	broad.mit.edu	37	22	43089692	43089692	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:43089692T>C	uc003bdb.3	-	2	527	c.266A>G	c.(265-267)aAc>aGc	p.N89S	A4GALT_uc021wqo.1_Missense_Mutation_p.N89S|A4GALT_uc021wqp.1_Missense_Mutation_p.N89S|A4GALT_uc010gzd.3_Missense_Mutation_p.N89S|A4GALT_uc021wqq.1_Missense_Mutation_p.N89S	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	89					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GAAGTTGGGGTTGGTCCGGTC	0.637000														109			26		0	0	0.00106085	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454061	114454061	+	Missense_Mutation	SNP	C	T	T	rs145569979	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:114454061C>T	uc001eeg.3	+	3	1141	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	DCLRE1B_uc001eeh.3_Missense_Mutation_p.R157C|DCLRE1B_uc001eei.3_Missense_Mutation_p.R157C	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	283					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	p.R283C(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCGAGCTTCGTGCCTTTGT	0.562000								Other identified genes with known or suspected DNA repair function						54			29		0	0	0.0024448	0	0
ALKBH1	8846	broad.mit.edu	37	14	78142163	78142163	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:78142163G>A	uc001xuc.1	-	4	585	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	192					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGTCAGAAGGGAAAGGTGTGT	0.418000														43			8		0	0	0.000274275	0	0
FES	2242	broad.mit.edu	37	15	91433182	91433182	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:91433182C>G	uc002bpv.3	+	7	1158	c.1039C>G	c.(1039-1041)Ccc>Gcc	p.P347A	FES_uc010uqj.2_Missense_Mutation_p.P289A|FES_uc010uqk.2_Missense_Mutation_p.P329A|FES_uc002bpx.3_Missense_Mutation_p.P347A|FES_uc002bpy.3_Missense_Mutation_p.P289A|FES_uc010bny.3_Missense_Mutation_p.P289A	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	347					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAACACCCACCCCCGGGAGCG	0.657000														154			24		0	0	0.000375601	0	0
PLVAP	83483	broad.mit.edu	37	19	17476443	17476443	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17476443G>A	uc002ngk.1	-	2	871	c.831C>T	c.(829-831)agC>agT	p.S277S		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	277						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCTCATGAGGCTGGGCATGT	0.632000														57			21		0	0	0.00188189	0	0
SMCHD1	23347	broad.mit.edu	37	18	2763772	2763772	+	Silent	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:2763772T>A	uc002klm.4	+	36	4893	c.4704T>A	c.(4702-4704)ggT>ggA	p.G1568G	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1568					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCGTGAATGGTTCGGCTGAAA	0.333000														70			35		0	0	0.00222228	0	0
CDKN1C	1028	broad.mit.edu	37	11	2905985	2905985	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:2905985C>T	uc001lws.4	-	0	1011	c.735G>A	c.(733-735)ggG>ggA	p.G245G	CDKN1C_uc001lwu.4_Silent_p.G234G|CDKN1C_uc009ydr.3_Silent_p.G234G|CDKN1C_uc001lwr.4_Silent_p.G245G	NM_000076	NP_001116103	P49918	CDN1C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), transcript variant 1, mRNA.	245					G1 phase of mitotic cell cycle|cell cycle arrest|negative regulation of epithelial cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding			central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCCCGAAATCCCCGAGTGCA	0.761000														312			54		0	0	0.000781405	0	0
NOD1	10392	broad.mit.edu	37	7	30496450	30496450	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:30496450G>A	uc003tav.3	-	3	611	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	NOD1_uc010kvs.2_Silent_p.L30L|NOD1_uc003tax.2_Non-coding_Transcript|NOD1_uc003tay.2_Non-coding_Transcript|NOD1_uc010kvt.2_Non-coding_Transcript|NOD1_uc010kvu.2_Non-coding_Transcript	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	30	CARD.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGAGTGACCAGAAGTTCCCGA	0.488000														87			28		0	0	0.001512	0	0
FFAR3	2865	broad.mit.edu	37	19	35863086	35863086	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:35863086C>T	uc021usn.1	+	0	830	c.825C>T	c.(823-825)gtC>gtT	p.V275V		NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	275						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACCCCTTTGTCTACTACTTCT	0.587000														47			22		0	0	0.00127121	0	0
PTPN7	5778	broad.mit.edu	37	1	202123316	202123316	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:202123316C>T	uc001gxn.2	-	5	1700	c.604G>A	c.(604-606)Gag>Aag	p.E202K	PTPN7_uc001gxl.2_Missense_Mutation_p.E241K|PTPN7_uc001gxm.2_Missense_Mutation_p.E307K|PTPN7_uc010ppx.2_Missense_Mutation_p.E276K|PTPN7_uc010ppw.2_Missense_Mutation_p.E150K|PTPN7_uc010ppy.2_Intron|PTPN7_uc001gxo.1_Missense_Mutation_p.E154K	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	202	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CCTCCTACCTCCTTGCCCTCT	0.592000														31			17		0	0	0.000958276	0	0
TNR	7143	broad.mit.edu	37	1	175304905	175304905	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:175304905G>A	uc001gkp.1	-	17	3654	c.3573C>T	c.(3571-3573)ttC>ttT	p.F1191F	TNR_uc009wwu.1_Silent_p.F1191F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1191	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCATTTCCGGAAAAAATCAG	0.428000														94			10		0	0	0.00185496	0	0
ITFG2	55846	broad.mit.edu	37	12	2933279	2933279	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:2933279C>T	uc001qlb.2	+	11	1404	c.1264C>T	c.(1264-1266)Cgt>Tgt	p.R422C	ITFG2_uc010seb.2_Missense_Mutation_p.R245C|ITFG2_uc010sec.2_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	422										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCCTGTGACTCGTGCCCTGCT	0.602000														59			40		0	0	0.000781405	0	0
PDE7A	5150	broad.mit.edu	37	8	66636582	66636582	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:66636582G>A	uc003xvq.3	-	10	1296	c.1070C>T	c.(1069-1071)gCt>gTt	p.A357V	PDE7A_uc003xvr.3_Missense_Mutation_p.A357V|PDE7A_uc003xvp.3_Missense_Mutation_p.A331V	NM_001242318	NP_001229247	Q13946	PDE7A_HUMAN	Homo sapiens phosphodiesterase 7A (PDE7A), transcript variant 3, mRNA.	357	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	ACATTTCAAAGCCATCTAGCA	0.353000														27			10		0	0	0.00136819	0	0
FAT3	120114	broad.mit.edu	37	11	92087329	92087329	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92087329G>A	uc001pdj.4	+	0	2068	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	684					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				TTCAGTTGCAGAGAAACTCGT	0.408000										TCGA Ovarian(4;0.039)				180			80		0	0	0.000781405	0	0
FLNB	2317	broad.mit.edu	37	3	58107129	58107129	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:58107129C>T	uc003djj.2	+	19	3190	c.3025C>T	c.(3025-3027)Cgg>Tgg	p.R1009W	FLNB_uc010hne.2_Missense_Mutation_p.R1009W|FLNB_uc003djk.2_Missense_Mutation_p.R1009W|FLNB_uc010hnf.2_Missense_Mutation_p.R1009W|FLNB_uc003djl.2_Missense_Mutation_p.R840W|FLNB_uc003djm.2_Missense_Mutation_p.R840W	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1009					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.R1009L(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTTCATCCCTCGGGAGGAGGG	0.622000														93			23		0	0	0.00188189	0	0
MKRN3	7681	broad.mit.edu	37	15	23811327	23811327	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:23811327C>T	uc001ywh.4	+	0	874	c.398C>T	c.(397-399)tCg>tTg	p.S133L	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S133L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	133						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTGGCGTTTCGCCGCCTGGG	0.627000														70			17		0	0	0.000566183	0	0
PTEN	5728	broad.mit.edu	37	10	89624249	89624249	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:89624249T>C	uc001kfb.3	+	0	1055	c.23T>C	c.(22-24)aTc>aCc	p.I8T	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	8					T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.E7*(12)|p.I8_R14>LRLICIF(2)|p.E7fs*3(1)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCAAAGAGATCGTTAGCAGA	0.488000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				144			30		0	0	0.00195071	0	0
DSG3	1830	broad.mit.edu	37	18	29038468	29038468	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:29038468G>A	uc002kws.3	+	3	386	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	93	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTGGGAATCGATCAGCCGCC	0.443000														48			6		0	0	0.00116845	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882709	228882709	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228882709C>T	uc002vpq.2	-	6	2908	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G954E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G954E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	954						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTTGTTTTCCACTGGAGTT	0.493000														67			33		0	0	0.00111076	0	0
TBC1D14	57533	broad.mit.edu	37	4	7026734	7026734	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:7026734C>T	uc011bwg.2	+	12	1840	c.1761C>T	c.(1759-1761)atC>atT	p.I587I	TBC1D14_uc003gjs.4_Silent_p.I587I|TBC1D14_uc010idh.3_Silent_p.I307I|TBC1D14_uc011bwh.2_Silent_p.I234I|TBC1D14_uc003gju.4_Silent_p.I78I	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	587	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCCCTAGGATCTTTACCTTAT	0.463000														150			43		0	0	0.000781405	0	0
ITIH5	80760	broad.mit.edu	37	10	7618721	7618721	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:7618721C>T	uc021pmv.1	-	9	1779	c.1673G>A	c.(1672-1674)gGa>gAa	p.G558E	ITIH5_uc021pmu.1_Missense_Mutation_p.G344E|ITIH5_uc001ijr.2_Missense_Mutation_p.G558E	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	558					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCTGGGGCTTCCTGTGACATC	0.582000														38			10		0	0	0.000673444	0	0
KIAA1324	57535	broad.mit.edu	37	1	109742720	109742720	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:109742720G>T	uc021orb.1	+	19	2889	c.2668G>T	c.(2668-2670)Ggt>Tgt	p.G890C	KIAA1324_uc009wex.2_Missense_Mutation_p.G840C|KIAA1324_uc010ovg.2_Missense_Mutation_p.G788C|KIAA1324_uc009wey.3_Missense_Mutation_p.G803C|KIAA1324_uc001dwr.3_Missense_Mutation_p.G540C|KIAA1324_uc001dws.1_Non-coding_Transcript|KIAA1324_uc009wez.1_Non-coding_Transcript	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	890					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCTATGCTCTGGTGGCATTTC	0.512000														434			11		1.3612e-06	6.46896e-06	0.000308642	1	0
PCGF5	84333	broad.mit.edu	37	10	93038033	93038033	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:93038033C>T	uc001khi.3	+	9	1139	c.731C>T	c.(730-732)cCt>cTt	p.P244L	PCGF5_uc001khh.3_Missense_Mutation_p.P244L|PCGF5_uc010qnk.2_Missense_Mutation_p.P244L	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TAGTCATACCCTATGGTACTG	0.343000														32			6		0	0	0.00198382	0	0
ZNF195	7748	broad.mit.edu	37	11	3380851	3380851	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:3380851C>T	uc001lxt.3	-	5	1569	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	ZNF195_uc010qxr.2_Missense_Mutation_p.E444K|ZNF195_uc009ydz.3_Missense_Mutation_p.E418K|ZNF195_uc001lxu.3_Missense_Mutation_p.E395K|ZNF195_uc001lxv.3_Missense_Mutation_p.E440K|ZNF195_uc021qck.1_Missense_Mutation_p.E395K|ZNF195_uc001lxs.3_Missense_Mutation_p.E391K	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAGGGTTTCTCTCCGGTGTGA	0.448000														67			13		0	0	0.000308642	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18768844	18768844	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:18768844C>T	uc010exr.3	-	1	157	c.45G>A	c.(43-45)atG>atA	p.M15I	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.M15I|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.M15I|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.M15I|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.M15I|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.M15I|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.M15I|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.M15I|NT5C1B-RDH14_uc002rdb.1_5'Flank	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	0					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TTGAGGACCTCATTCCAGGCT	0.378000														151			18		0	0	0.00047179	0	0
FLNC	2318	broad.mit.edu	37	7	128483361	128483361	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:128483361C>T	uc003vnz.4	+	16	2838	c.2629C>T	c.(2629-2631)Ctg>Ttg	p.L877L	FLNC_uc003voa.4_Silent_p.L877L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	877					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGCCCTGGGCTGAATCGCAC	0.642000														15			11		0	0	0.000978159	0	0
WDR72	256764	broad.mit.edu	37	15	53997325	53997325	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:53997325C>T	uc002acj.2	-	10	1250	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	WDR72_uc010bfi.1_Missense_Mutation_p.G403E	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	403										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TACAGCAGTTCCTGCCCCATC	0.388000														112			21		0	0	0.000375601	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799099	57799099	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:57799099C>T	uc010rjz.2	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ATGGCAACATCGTCTGGACAC	0.557000														49			30		0	0	0.001512	0	0
CCNA1	8900	broad.mit.edu	37	13	37011908	37011908	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:37011908G>A	uc001uvr.4	+	2	790	c.440G>A	c.(439-441)aGa>aAa	p.R147K	CCNA1_uc010teo.2_Missense_Mutation_p.R103K|CCNA1_uc010abq.3_Missense_Mutation_p.R103K|CCNA1_uc010abp.3_Missense_Mutation_p.R103K|CCNA1_uc001uvs.4_Missense_Mutation_p.R146K|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	147					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGGGGGACAGAGACAGCTGC	0.537000														35			9		0	0	0.000274275	0	0
MKKS	8195	broad.mit.edu	37	20	10393417	10393417	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:10393417G>A	uc002wnt.1	-	2	1633	c.746C>T	c.(745-747)tCc>tTc	p.S249F	MKKS_uc002wnu.1_Missense_Mutation_p.S249F|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	249	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AGTGTCTCCGGATAAAGTTGT	0.438000														61			18		0	0	0.00121646	0	0
ZNF100	163227	broad.mit.edu	37	19	21910780	21910780	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:21910780G>A	uc002nqi.3	-	4	533	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	ZNF100_uc002nqh.3_Missense_Mutation_p.H48Y	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGGGGAAAATGAGAACATATA	0.289000														27			8		0	0	0.000274275	0	0
ASPM	259266	broad.mit.edu	37	1	197097757	197097757	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:197097757G>A	uc001gtu.3	-	9	3056	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	ASPM_uc001gtv.3_Silent_p.F933F|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	933	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCACTTAGGAAATCTCGTG	0.333000														41			5		0	0	0.000602214	0	0
KIF1B	23095	broad.mit.edu	37	1	10316344	10316344	+	Missense_Mutation	SNP	C	T	T	rs143654307		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:10316344C>T	uc001aqx.4	+	2	348	c.146C>T	c.(145-147)tCc>tTc	p.S49F	KIF1B_uc001aqv.4_Missense_Mutation_p.S49F|KIF1B_uc001aqw.4_Missense_Mutation_p.S49F|KIF1B_uc001aqy.3_Missense_Mutation_p.S49F|KIF1B_uc001aqz.3_Missense_Mutation_p.S49F|KIF1B_uc001ara.3_Missense_Mutation_p.S49F|KIF1B_uc001arb.3_Missense_Mutation_p.S49F|KIF1B_uc009vmt.3_Non-coding_Transcript	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	49	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAAAGTCCTTCAGCTTC	0.403000														68			41		0	0	0.000781405	0	0
KAT6B	23522	broad.mit.edu	37	10	76788998	76788998	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:76788998G>A	uc001jwn.1	+	17	4909	c.4416G>A	c.(4414-4416)gaG>gaA	p.E1472E	KAT6B_uc001jwo.1_Silent_p.E1180E|KAT6B_uc001jwp.1_Silent_p.E1289E	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1472					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CGAACCCAGAGGTCTTAATGG	0.517000														46			9		0	0	0.00185496	0	0
TPTE2	93492	broad.mit.edu	37	13	20048070	20048070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:20048070G>A	uc001umd.3	-	6	587	c.376C>T	c.(376-378)Cga>Tga	p.R126*	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Nonsense_Mutation_p.R89*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	126						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R89G(1)|p.R126G(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAATACTCGAAGAAGAACA	0.358000														53			11		0	0	0.000673444	0	0
CELSR2	1952	broad.mit.edu	37	1	109794968	109794969	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:109794968_109794969CC>AA	uc001dxa.4	+	0	2328_2329	c.2267_2268CC>AA	c.(2266-2268)ccc>cAA	p.P756Q		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	756	Cadherin 6.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GACAGCATCCCCCAGTTCCGCA	0.609000														403			11		0	0	6.4e-05	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884786	228884786	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228884786C>T	uc002vpq.2	-	6	831	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E262K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E262K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	262						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCCACTTTTCCTTGTTGCAA	0.378000														173			59		0	0	0.000781405	0	0
SULT6B1	391365	broad.mit.edu	37	2	37410652	37410652	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:37410652C>T	uc002rpu.3	-	2	225	c.204G>A	c.(202-204)atG>atA	p.M68I	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	106						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GAAAGCCTTTCATTCTCTTAA	0.403000														76			13		0	0	0.00185496	0	0
CASP10	843	broad.mit.edu	37	2	202074227	202074227	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:202074227G>A	uc002uxj.1	+	8	1775	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.E386K|CASP10_uc002uxk.1_Missense_Mutation_p.E410K|CASP10_uc002uxl.2_Missense_Mutation_p.E453K|CASP10_uc002uxm.2_Missense_Mutation_p.E410K	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	453					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TCGGCATGTGGAGGAAGGCAG	0.468000														110			40		0	0	0.00222228	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474652	102474652	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:102474652T>A	uc001yks.2	+	28	6119	c.5955T>A	c.(5953-5955)caT>caA	p.H1985Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1985	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCGTGAACATTCCAACCCCA	0.498000														35			9		0	0	0.000978159	0	0
OR10J1	26476	broad.mit.edu	37	1	159410066	159410066	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159410066C>T	uc010piv.2	+	0	555	c.518C>T	c.(517-519)tCt>tTt	p.S173F	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	173					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.T172A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAAGTGACATCTGTATTCAGG	0.493000														53			30		0	0	0.00127121	0	0
MACF1	23499	broad.mit.edu	37	1	39800435	39800435	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:39800435G>A	uc021olw.1	+	0	3495	c.3495G>A	c.(3493-3495)caG>caA	p.Q1165Q	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2730					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCTCATCAGGTGTTAAATG	0.383000														74			19		0	0	0.00121646	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136335	103136335	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:103136335G>A	uc002tbz.4	+	8	2196	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	580					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGATACAAGGAATCAAAAGA	0.453000														30			10		0	0	0.00136819	0	0
ASTN1	460	broad.mit.edu	37	1	177133714	177133714	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:177133714C>T	uc001glc.3	-	0	311	c.99G>A	c.(97-99)ctG>ctA	p.L33L	ASTN1_uc001glb.1_Silent_p.L33L|ASTN1_uc001gld.1_Silent_p.L33L|ASTN1_uc009wwx.1_Silent_p.L33L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	33					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTTGCACTCCAGCTCCTTGG	0.682000														30			16		0	0	0.000958276	0	0
CD300C	10871	broad.mit.edu	37	17	72540860	72540860	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:72540860G>A	uc002jky.1	-	1	649	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	96	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GATTCTCCAGGGTCACTGTGA	0.547000														34			31		0	0	0.001512	0	0
LGR5	8549	broad.mit.edu	37	12	71960479	71960479	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:71960479C>T	uc001swl.3	+	10	1046	c.998_splice	c.e10+1	p.L333_splice	LGR5_uc001swm.3_Splice_Site_p.L309_splice|LGR5_uc021rar.1_Splice_Site_p.L261_splice|LGR5_uc001swn.1_Splice_Site	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	333						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTGGAGAGTCTGTAAGTACT	0.398000														191			108		0	0	0.000781405	0	0
PSD4	23550	broad.mit.edu	37	2	113943511	113943511	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113943511C>T	uc002tjc.3	+	4	1490	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	PSD4_uc002tjd.3_Missense_Mutation_p.P57L|PSD4_uc002tje.3_Intron|PSD4_uc002tjf.3_Missense_Mutation_p.P57L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	436					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCCCTGCCCCTGGAGGAGC	0.647000														15			4		0	0	0.000602214	0	0
PPFIA4	8497	broad.mit.edu	37	1	203033126	203033126	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:203033126C>T	uc009xaj.3	+	29	3420	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	PPFIA4_uc010pqf.2_Silent_p.F722F|PPFIA4_uc001gyz.3_Silent_p.F509F|PPFIA4_uc001gza.3_Silent_p.F500F|PPFIA4_uc001gzb.1_Silent_p.F195F|PPFIA4_uc001gzc.1_Silent_p.F51F			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	509					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGACAGCTTCCATCGGTGAG	0.637000														42			13		0	0	0.00185496	0	0
PTPRN	5798	broad.mit.edu	37	2	220168539	220168539	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220168539C>T	uc002vkz.3	-	3	536	c.295G>A	c.(295-297)Gat>Aat	p.D99N	PTPRN_uc010zlc.2_Missense_Mutation_p.D9N|PTPRN_uc002vla.3_Missense_Mutation_p.D99N	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	99					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTGAGGTCATCGTGCCAGGAC	0.577000														41			24		0	0	0.000375601	0	0
HMBOX1	79618	broad.mit.edu	37	8	28866603	28866603	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:28866603C>T	uc003xhd.4	+	4	943	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	HMBOX1_uc010lvd.3_Missense_Mutation_p.R201W|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Missense_Mutation_p.R201W|HMBOX1_uc011lay.2_Missense_Mutation_p.R201W|HMBOX1_uc003xhg.3_Missense_Mutation_p.R189W|HMBOX1_uc003xhf.3_Missense_Mutation_p.R189W	NM_001135726	NP_078843	Q6NT76	HMBX1_HUMAN	Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA.	201					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CAGTCAGAGCCGGATCTCTCA	0.423000														108			21		0	0	0.00229938	0	0
PTPRT	11122	broad.mit.edu	37	20	40748582	40748582	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:40748582C>T	uc002xkg.3	-	19	3061	c.2877G>A	c.(2875-2877)gcG>gcA	p.A959A	PTPRT_uc010ggj.3_Silent_p.A978A|PTPRT_uc010ggi.3_Silent_p.A162A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	959	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)				TACCTTGAGTCGCAATGTAGT	0.507000														93			28		0	0	0.0024448	0	0
PLIN5	440503	broad.mit.edu	37	19	4523678	4523678	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4523678G>A	uc002mas.3	-	7	1307	c.1254C>T	c.(1252-1254)gcC>gcT	p.A418A		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	418						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CTGCCTCCCAGGCTCTCTGCT	0.716000											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		150			53		0	0	0.000781405	0	0
MANSC1	54682	broad.mit.edu	37	12	12483765	12483765	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:12483765G>A	uc001rai.1	-	3	750	c.492C>T	c.(490-492)acC>acT	p.T164T	MANSC1_uc010shm.1_Silent_p.T98T|MANSC1_uc001raj.1_Silent_p.T130T	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	164						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATGAGATATCGGTGGGCTTTG	0.453000														59			25		0	0	0.000720815	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209569	3209569	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:3209569G>A	uc010zqe.2	-	16	2361	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y	SLC4A11_uc002wig.3_Missense_Mutation_p.H719Y|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.H703Y	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	719	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TAGGCGGCATGGATCCAAGGC	0.622000														52			22		0	0	0.000878237	0	0
CD80	941	broad.mit.edu	37	3	119263484	119263484	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:119263484C>T	uc003ecq.3	-	2	726	c.331G>A	c.(331-333)Gag>Aag	p.E111K	CD80_uc010hqt.1_Missense_Mutation_p.E111K|CD80_uc010hqu.1_Missense_Mutation_p.E111K|CD80_uc003ecr.1_Missense_Mutation_p.E111K	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	111	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TATGTGCCCTCGTCAGATGGG	0.478000														59			29		0	0	0.00127121	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884532	205884532	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:205884532C>T	uc001hdp.3	-	21	2443	c.2329_splice	c.e21-1	p.E777_splice	SLC26A9_uc001hdm.3_Splice_Site|SLC26A9_uc001hdn.3_Splice_Site|SLC26A9_uc001hdo.3_Splice_Site_p.E445_splice|SLC26A9_uc001hdq.3_Splice_Site_p.E777_splice	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	777						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCGAACATCTCCTGCAGGAAC	0.597000														61			12		0	0	0.00185496	0	0
PLCB4	5332	broad.mit.edu	37	20	9459612	9459612	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:9459612C>T	uc021wam.1	+	35	3556	c.3541C>T	c.(3541-3543)Ccg>Tcg	p.P1181S	PLCB4_uc010gbx.3_Silent_p.D1180D|PLCB4_uc021wal.1_Silent_p.D1168D|PLCB4_uc002wnh.3_Silent_p.D1015D	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.P1181Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCGAGATGGACCGCAGACCAG	0.438000														27			13		0	0	0.000422831	0	0
USH2A	7399	broad.mit.edu	37	1	216497628	216497628	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:216497628C>T	uc001hku.1	-	6	1597	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	USH2A_uc001hkv.3_Missense_Mutation_p.E404K	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	404	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAACTATTTTCCTTCTTCCTT	0.328000										HNSCC(13;0.011)				35			15		0	0	0.000422831	0	0
CATSPERB	79820	broad.mit.edu	37	14	92157875	92157875	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:92157875A>T	uc001xzs.1	-	9	996	c.856T>A	c.(856-858)Ttt>Att	p.F286I		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	286					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACCCTTTCAAAACCACAAAAG	0.328000														167			45		0	0	0.000781405	0	0
DPPA4	55211	broad.mit.edu	37	3	109047753	109047753	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:109047753G>A	uc003dxq.4	-	5	917	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	DPPA4_uc011bho.2_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	288						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ACACATTTGGGGCACAACATA	0.423000														60			7		0	0	0.000274275	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558927	140558927	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140558927A>G	uc011dai.2	+	0	1557	c.1312A>G	c.(1312-1314)Atg>Gtg	p.M438V	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	438	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCTCAATATGACCGTGCT	0.552000														376			21		0	0	0.000375601	0	0
PML	5371	broad.mit.edu	37	15	74336704	74336704	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:74336704C>T	uc002awv.3	+	8	2144	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	PML_uc002awu.3_Silent_p.S620S|PML_uc010ule.2_Silent_p.S229S	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	668					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TTCTGAGCTCCATGCGCCGCC	0.602000			T	"""RARA, PAX5"""	"""APL, ALL"""									61			17		0	0	0.000958276	0	0
MC5R	4161	broad.mit.edu	37	18	13826292	13826292	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:13826292C>T	uc010xaf.2	+	0	750	c.528C>T	c.(526-528)gtC>gtT	p.V176V		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	176					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCGGCATTGTCTTCATCCTGT	0.562000														418			80		0	0	0.000781405	0	0
CEP164	22897	broad.mit.edu	37	11	117280572	117280572	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:117280572C>T	uc001prc.3	+	29	4134	c.3987C>T	c.(3985-3987)ccC>ccT	p.P1329P	CEP164_uc001prb.3_Silent_p.P1324P|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Silent_p.P754P	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1329					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTGCTACACCCACGTCCACCC	0.637000														82			34		0	0	0.000953801	0	0
MYO18B	84700	broad.mit.edu	37	22	26164179	26164179	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:26164179C>T	uc003abz.1	+	3	546	c.296C>T	c.(295-297)cCt>cTt	p.P99L	MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	99	Ser-rich.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin 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						TCAAGCTCTCCTGGGAGCTCA	0.587000														95			50		0	0	0.000781405	0	0
TLR6	10333	broad.mit.edu	37	4	38829376	38829376	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:38829376C>T	uc010ifg.2	-	1	1840	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K	TLR6_uc003gtm.3_Silent_p.K573K	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	573	LRRCT.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTGAAAGTCCTTTAGTGGGC	0.453000														63			14		0	0	0.000308642	0	0
ELFN2	114794	broad.mit.edu	37	22	37770222	37770222	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:37770222G>A	uc003asq.4	-	2	2139	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	ELFN2_uc021wph.1_Silent_p.S451S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	451						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGTGCACAATGGAGCCGGCAT	0.642000														162			57		0	0	0.000781405	0	0
HIPK3	10114	broad.mit.edu	37	11	33361066	33361066	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:33361066C>T	uc001mul.1	+	5	1869	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	HIPK3_uc001mum.1_Silent_p.F533F|HIPK3_uc009yjv.1_Silent_p.F533F	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	533					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTCTAGATTTCCCTCATAGCA	0.328000														153			26		0	0	0.000720815	0	0
SCN8A	6334	broad.mit.edu	37	12	52100395	52100395	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:52100395G>A	uc001ryw.3	+	10	1709	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	SCN8A_uc010snl.2_Missense_Mutation_p.D511N|SCN8A_uc001ryx.1_Missense_Mutation_p.D376N|SCN8A_uc001ryz.1_Missense_Mutation_p.D376N|SCN8A_uc001ryy.2_Missense_Mutation_p.D376N	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	511					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGAGAAAGGGGATCCCGAGAA	0.448000														6			3		0	0	0.00024832	0	0
GAD2	2572	broad.mit.edu	37	10	26558051	26558051	+	Silent	SNP	G	A	A	rs149629039	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:26558051G>A	uc001isp.2	+	8	1427	c.924G>A	c.(922-924)ggG>ggA	p.G308G	GAD2_uc001isq.2_Silent_p.G308G	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	308					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTCCAGAGGGAAAATGATTC	0.403000														71			9		0	0	0.000673444	0	0
CACNA1C	775	broad.mit.edu	37	12	2622102	2622102	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:2622102G>A	uc009zdu.1	+	8	1655	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	CACNA1C_uc001qkc.2_Missense_Mutation_p.D448N|CACNA1C_uc001qjz.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkd.2_Missense_Mutation_p.D448N|CACNA1C_uc001qke.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkf.2_Missense_Mutation_p.D448N|CACNA1C_uc009zdw.1_Missense_Mutation_p.D448N|CACNA1C_uc001qkg.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkh.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkl.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkj.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkk.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkn.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkm.2_Missense_Mutation_p.D448N|CACNA1C_uc001qko.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkp.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkq.2_Missense_Mutation_p.D448N|CACNA1C_uc001qku.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkr.2_Missense_Mutation_p.D448N|CACNA1C_uc001qks.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkt.2_Missense_Mutation_p.D448N|CACNA1C_uc009zdv.1_Missense_Mutation_p.D445N|CACNA1C_uc001qkb.2_Missense_Mutation_p.D448N|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.D184N|CACNA1C_uc009zdy.1_Missense_Mutation_p.D73N|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	448					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGAAGACATCGATCCTGAGAA	0.567000														9			5		0	0	0.000602214	0	0
OR8K1	390157	broad.mit.edu	37	11	56114225	56114225	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:56114225G>A	uc010rjg.2	+	0	711	c.711G>A	c.(709-711)agG>agA	p.R237R		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGAACTCAAGGAAAGGGAGGT	0.403000										HNSCC(65;0.19)				17			11		0	0	0.000978159	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276920	71276920	+	Missense_Mutation	SNP	C	T	T	rs36179995		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:71276920C>T	uc001oqt.1	+	0	312	c.287C>T	c.(286-288)tCc>tTc	p.S96F		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	96	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G95G(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTGTGGCTCCTGTGGGGGC	0.687000														71			17		0	0	0.00229938	0	0
COL5A2	1290	broad.mit.edu	37	2	189943285	189943285	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189943285C>T	uc002uqk.3	-	15	1291	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	339					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R338S(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTGGCATTCCCCTCGGACC	0.428000														148			49		0	0	0.000781405	0	0
MYH7	4625	broad.mit.edu	37	14	23898500	23898500	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23898500G>A	uc001wjx.3	-	12	1301	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	399	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGTGGCACAGCCCCTTGAGC	0.547000														60			13		0	0	0.000308642	0	0
TEK	7010	broad.mit.edu	37	9	27202876	27202876	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:27202876G>A	uc011lno.2	+	11	2281	c.1839G>A	c.(1837-1839)gtG>gtA	p.V613V	TEK_uc003zqi.4_Silent_p.V656V|TEK_uc011lnp.2_Silent_p.V509V|TEK_uc003zqj.1_Silent_p.V590V	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	656	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTCAGCTGTGATTTCTTGGA	0.348000														70			42		0	0	0.000781405	0	0
OR2J2	26707	broad.mit.edu	37	6	29141959	29141959	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:29141959C>T	uc011dlm.2	+	0	649	c.547C>T	c.(547-549)Cca>Tca	p.P183S		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGTGAAGTTCCAGCACTTCT	0.438000														61			35		0	0	0.000692331	0	0
BCAN	63827	broad.mit.edu	37	1	156622570	156622571	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156622570_156622571CC>TT	uc001fpp.3	+	7	2164_2165	c.1828_1829CC>TT	c.(1828-1830)ccc>TTc	p.P610F	BCAN_uc001fpo.3_Missense_Mutation_p.P610F	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	610					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTGGAGGCCCCCTCTGAAGAT	0.663000														27			9		0	0	6.4e-05	0	0
OR5P3	120066	broad.mit.edu	37	11	7847163	7847163	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:7847163G>A	uc010rbg.2	-	0	357	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCGATCATAGGCCATGGCAG	0.552000														64			22		0	0	0.00188189	0	0
TTN	7273	broad.mit.edu	37	2	179598488	179598488	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179598488C>T	uc021vsy.1	-	49	12121	c.11896G>A	c.(11896-11898)Gaa>Aaa	p.E3966K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E627K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4893							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)			TTTCCGTCTTCTCTGATGACC	0.453000														101			28		0	0	0.00058488	0	0
NRXN3	9369	broad.mit.edu	37	14	78710067	78710067	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:78710067G>A	uc001xum.1	+	1		c.1424G>A						Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.						angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGAAAATGGTGGGATCTGCTT	0.587000														54			18		0	0	0.00047179	0	0
ADCK3	56997	broad.mit.edu	37	1	227152760	227152760	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:227152760C>T	uc001hqm.1	+	7	3656	c.237C>T	c.(235-237)ttC>ttT	p.F79F	ADCK3_uc010pvp.1_Silent_p.F42F|ADCK3_uc001hqn.1_Silent_p.F79F|ADCK3_uc009xeq.1_Silent_p.F27F|ADCK3_uc010pvq.1_Intron|ADCK3_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA.	79					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AAGGGGAGTTCCACTTCTCAG	0.592000														77			33		0	0	0.000953801	0	0
DSCAM	1826	broad.mit.edu	37	21	41516654	41516654	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:41516654G>A	uc002yyq.1	-	16	3475	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1008	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGTTTCTTGGGAGCCTAAAC	0.443000														19			5		0	0	0.00198382	0	0
RGS7	6000	broad.mit.edu	37	1	241262042	241262042	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:241262042C>T	uc001hyv.2	-	2	429	c.99G>A	c.(97-99)cgG>cgA	p.R33R	RGS7_uc010pyh.2_Silent_p.R7R|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Silent_p.R33R|RGS7_uc009xgn.1_Silent_p.R33R|RGS7_uc001hyw.2_Silent_p.R33R	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	33					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R33W(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CATCTTGCATCCGTGCTATGA	0.338000														42			19		0	0	0.00188189	0	0
REG3A	5068	broad.mit.edu	37	2	79385792	79385792	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:79385792G>A	uc002sod.2	-	1	528	c.180C>T	c.(178-180)tcC>tcT	p.S60S	REG3A_uc002soe.2_Silent_p.S60S|REG3A_uc002sof.2_Silent_p.S60S	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	60	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATCTGTCCAGGATTTTGGTG	0.547000														30			20		0	0	0.000878237	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141092	143141092	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143141092G>A	uc011ktg.2	+	0	547	c.547G>A	c.(547-549)Gat>Aat	p.D183N	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	183					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.D183N(2)|p.G182G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGTCACTGGCGATAGCATACG	0.408000														103			21		0	0	0.00188189	0	0
MRPL37	51253	broad.mit.edu	37	1	54678204	54678204	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:54678204C>T	uc001cxa.4	+	4	940	c.863C>T	c.(862-864)cCc>cTc	p.P288L	MRPL37_uc009vzp.3_Missense_Mutation_p.P157L	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	288					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TACCCCTATCCCCATACCCTG	0.512000														225			62		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9066073	9066073	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9066073G>A	uc002mkp.3	-	2	21577	c.21373C>T	c.(21373-21375)Cct>Tct	p.P7125S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7127	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTCACAGGAAGAGGAGAG	0.517000														68			22		0	0	0.000878237	0	0
TMEM214	54867	broad.mit.edu	37	2	27257005	27257005	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:27257005G>A	uc002ria.4	+	1	332	c.222G>A	c.(220-222)gaG>gaA	p.E74E	TMEM214_uc002rib.4_Silent_p.E74E	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	74						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGAATAAGGAGCAGGTCCCAC	0.537000														71			19		0	0	0.00121646	0	0
ITGA10	8515	broad.mit.edu	37	1	145533075	145533075	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:145533075G>A	uc001eoa.3	+	10	1246	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	ITGA10_uc010oyv.2_Missense_Mutation_p.M259I|ITGA10_uc009wiw.3_Missense_Mutation_p.M247I|ITGA10_uc010oyw.2_Missense_Mutation_p.M335I	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	390					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTTTGGGATGGTGGGGGCCT	0.532000														53			20		0	0	0.00229938	0	0
ATP9A	10079	broad.mit.edu	37	20	50273611	50273611	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:50273611C>T	uc002xwg.1	-	13	1372	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	ATP9A_uc010gih.1_Missense_Mutation_p.E322K|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	458					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCACGGCTTCGTGCACGCGG	0.597000														26			18		0	0	0.000958276	0	0
AK7	122481	broad.mit.edu	37	14	96944872	96944872	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:96944872C>T	uc001yfn.2	+	14	1670	c.1626C>T	c.(1624-1626)atC>atT	p.I542I		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	542					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTGAGAGCATCGTGGCGGGGA	0.517000														78			19		0	0	0.00188189	0	0
SON	6651	broad.mit.edu	37	21	34926081	34926081	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:34926081C>T	uc002yse.1	+	2	4593	c.4544C>T	c.(4543-4545)gCt>gTt	p.A1515V	SON_uc002ysb.1_Missense_Mutation_p.A1515V|SON_uc002ysc.3_Missense_Mutation_p.A1515V|SON_uc002ysd.3_Missense_Mutation_p.A506V|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.A1161V|SON_uc002ysg.3_Missense_Mutation_p.A506V	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1515					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAACCACATGCTGAGGAACAC	0.353000														38			8		0	0	0.000157383	0	0
EFNB3	1949	broad.mit.edu	37	17	7611341	7611341	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7611341C>T	uc002gis.3	+	1	585	c.188C>T	c.(187-189)cCc>cTc	p.P63L		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	63					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGCTCTGCCCCCGGGCCCGG	0.622000														50			44		0	0	0.00195071	0	0
LPIN1	23175	broad.mit.edu	37	2	11922626	11922626	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:11922626G>T	uc010yjm.2	+	8	1457	c.1404G>T	c.(1402-1404)agG>agT	p.R468S	LPIN1_uc010yjn.2_Missense_Mutation_p.R383S|LPIN1_uc002rbt.3_Missense_Mutation_p.R383S|LPIN1_uc002rbs.3_Missense_Mutation_p.R419S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	383					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTCCTTCCAGGAAAAGAGGTA	0.522000														62			19		3.01185e-09	1.43362e-08	0.000586117	1	0
PHF10	55274	broad.mit.edu	37	6	170112562	170112562	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:170112562G>A	uc011egy.2	-	7	956	c.877C>T	c.(877-879)Cct>Tct	p.P293S	PHF10_uc011egz.2_Missense_Mutation_p.P291S|PHF10_uc011eha.1_Missense_Mutation_p.P144S	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	293	Essential to induce neural progenitor proliferation (By similarity).|SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TCTAGAGCAGGGAGCTCAGGA	0.473000														82			33		0	0	0.00128727	0	0
C10orf71	118461	broad.mit.edu	37	10	50531439	50531439	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:50531439C>T	uc021pqb.1	+	0	849	c.849C>T	c.(847-849)caC>caT	p.H283H	C10orf71_uc021pqa.1_Silent_p.H282H|C10orf71_uc021pqc.1_Silent_p.H283H	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	283										endometrium(1)	1						GGAATGCCCACCAACCAAAGC	0.537000														22			6		0	0	0.00116845	0	0
PRUNE2	158471	broad.mit.edu	37	9	79441559	79441559	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:79441559G>A	uc010mpk.3	-	4	722	c.598C>T	c.(598-600)Cct>Tct	p.P200S	PRUNE2_uc022bih.1_Missense_Mutation_p.P22S|PRUNE2_uc004akn.3_Missense_Mutation_p.P200S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	200					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGCAAGTTAGGAAATTTTTCT	0.473000														46			29		0	0	0.00106085	0	0
SLC36A4	120103	broad.mit.edu	37	11	92918857	92918857	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92918857G>A	uc001pdn.3	-	2	276	c.179_splice	c.e2+1	p.S60_splice	SLC36A4_uc001pdm.3_Splice_Site	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	60					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAACACTTACGAAATGCCCTC	0.348000														229			148		0	0	0.000781405	0	0
SYT10	341359	broad.mit.edu	37	12	33559843	33559843	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:33559843C>T	uc001rll.1	-	2	1255	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SYT10_uc009zju.1_Missense_Mutation_p.D130N	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	320	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGTCAAAATCATACACACTG	0.363000														28			20		0	0	0.00121646	0	0
KANSL3	55683	broad.mit.edu	37	2	97267445	97267445	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:97267445G>A	uc002swn.4	-	19	2697	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	KANSL3_uc002swh.4_Missense_Mutation_p.P737S|KANSL3_uc002swi.4_Missense_Mutation_p.P778S|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.P764S|KANSL3_uc010fhz.3_Missense_Mutation_p.P671S|KANSL3_uc002swl.4_Missense_Mutation_p.P750S|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.P645S|KANSL3_uc002swo.3_Missense_Mutation_p.P199S	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	877																	GAGCCCATAGGGCTCAGTGTA	0.562000														20			9		0	0	0.000673444	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793982	140793982	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140793982C>T	uc003lkl.2	+	0	1240	c.1240C>T	c.(1240-1242)Ctt>Ttt	p.L414F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.L414F	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	412	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACAGAGCCCTTGACAGGGA	0.438000														109			17		0	0	0.00074312	0	0
FAT4	79633	broad.mit.edu	37	4	126411402	126411402	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:126411402G>A	uc003ifj.4	+	16	13425	c.13425G>A	c.(13423-13425)caG>caA	p.Q4475Q	FAT4_uc011cgp.2_Silent_p.Q2716Q|FAT4_uc003ifi.1_Silent_p.Q1952Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4475					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K4420fs*15(1)|p.K4477fs*15(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTGTCCTCAGGGGAAGGTGT	0.612000														67			17		0	0	0.00121646	0	0
HNF1B	6928	broad.mit.edu	37	17	36093644	36093644	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:36093644C>A	uc002hok.4	-	2	936	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	HNF1B_uc021tvu.1_Missense_Mutation_p.G9W|HNF1B_uc010wdi.2_Missense_Mutation_p.G213W|HNF1B_uc021tvv.1_Missense_Mutation_p.G239W|HNF1B_uc021tvw.1_Missense_Mutation_p.G213W|HNF1B_uc010cve.1_Missense_Mutation_p.G47W	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	239					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W238*(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GACGCGGGCCCCCATTTGAAC	0.562000														217			140		5.60561e-59	2.68424e-58	0.000781405	1	0
FHOD1	29109	broad.mit.edu	37	16	67270547	67270547	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:67270547G>A	uc002esl.3	-	10	1344	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	FHOD1_uc010ced.3_Missense_Mutation_p.P218L|FHOD1_uc010vjh.1_Missense_Mutation_p.P71L	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	411	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGACCGGAGGGAGGGCCCAC	0.642000														23			16		0	0	0.00074312	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887587	12887587	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12887587C>T	uc001auk.2	-	2	466	c.270G>A	c.(268-270)agG>agA	p.R90R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	90										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGTTTTGTTCCTCTTGGCAT	0.483000														294			81		0	0	0.000781405	0	0
MAK	4117	broad.mit.edu	37	6	10775656	10775656	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:10775656C>T	uc021ylk.1	-	11	1784	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.G501E|MAK_uc021yll.1_Missense_Mutation_p.G501E	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	501					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TATTTCCTTTCCACTGGCTAT	0.448000														87			38		0	0	0.00170553	0	0
SLC6A1	6529	broad.mit.edu	37	3	11060385	11060385	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:11060385G>A	uc010hdq.3	+	5	882	c.471_splice	c.e5+1	p.T157_splice		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	157					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTTCACCACGGTGAGTGGTCC	0.577000														35			15		0	0	0.000422831	0	0
NPY1R	4886	broad.mit.edu	37	4	164246712	164246712	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:164246712G>A	uc003iqm.2	-	2	1363	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Silent_p.L57L	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	300					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGAATAACAGATTGTGGTTG	0.438000														39			12		0	0	0.000219431	0	0
KRIT1	889	broad.mit.edu	37	7	91863814	91863814	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:91863814G>A	uc003ulr.1	-	9	1830	c.938C>T	c.(937-939)tCa>tTa	p.S313L	KRIT1_uc010lev.1_Missense_Mutation_p.S106L|KRIT1_uc003ulq.1_Missense_Mutation_p.S313L|KRIT1_uc003uls.1_Missense_Mutation_p.S313L|KRIT1_uc003ult.1_Intron|KRIT1_uc003ulu.1_Missense_Mutation_p.S313L|KRIT1_uc003ulv.1_Missense_Mutation_p.S313L	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	313					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGTTGACTGAAAATCTTTC	0.383000														79			21		0	0	0.000375601	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716994	222716994	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:222716994G>A	uc001hnh.1	-	1	917	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	287					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R287C(2)|p.R287L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TAGAACTTGCGATTGTGGCGG	0.473000														432			67		0	0	0.000781405	0	0
UNC13A	23025	broad.mit.edu	37	19	17759345	17759345	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17759345C>T	uc021uqk.1	-	15	1750	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	571					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGCAGCCCCTCGCACTCGTAG	0.627000														48			16		0	0	0.00074312	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430756	37430756	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:37430756G>A	uc021ppc.1	+	6	862	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E255K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCTTGGTGGAAAGAACACC	0.498000														50			18		0	0	0.000566183	0	0
FAT3	120114	broad.mit.edu	37	11	92085335	92085335	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92085335C>T	uc001pdj.4	+	0	74	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	19					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				GTTGCCTCATCCTCCTGCTTT	0.507000										TCGA Ovarian(4;0.039)				218			93		0	0	0.000781405	0	0
TRIM58	25893	broad.mit.edu	37	1	248039598	248039598	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248039598C>T	uc001ido.3	+	5	1316	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	423	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGAAATTTCATTCTACAAT	0.438000														147			64		0	0	0.000781405	0	0
MYH7	4625	broad.mit.edu	37	14	23886368	23886368	+	Silent	SNP	G	A	A	rs139928934		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23886368G>A	uc001wjx.3	-	31	4619	c.4513C>T	c.(4513-4515)Ctg>Ttg	p.L1505L		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1505					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACACCCTGCAGGTTTTTGTTC	0.592000														143			36		0	0	0.00170553	0	0
AMBRA1	55626	broad.mit.edu	37	11	46529781	46529781	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:46529781G>A	uc001ncv.2	-	10	2622	c.2308C>T	c.(2308-2310)Cca>Tca	p.P770S	AMBRA1_uc010rgt.1_Missense_Mutation_p.P333S|AMBRA1_uc009ylc.1_Missense_Mutation_p.P738S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P677S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P767S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P648S|AMBRA1_uc001ncx.2_Intron	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	767					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCTACTGATGGACCCTGGTTG	0.512000														51			7		0	0	0.000157383	0	0
MACF1	23499	broad.mit.edu	37	1	39908123	39908123	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:39908123C>T	uc021olw.1	+	41	14317	c.14317C>T	c.(14317-14319)Cag>Tag	p.Q4773*	MACF1_uc021ols.1_Nonsense_Mutation_p.Q4268*|MACF1_uc021olt.1_Nonsense_Mutation_p.Q4271*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6338					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTCAGTTCCAGCATGCCTT	0.438000														92			25		0	0	0.000720815	0	0
MARC1	64757	broad.mit.edu	37	1	220970134	220970134	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:220970134G>A	uc001hmt.3	+	2	847	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	MARC1_uc001hms.3_Missense_Mutation_p.R200Q	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	200	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GACTTGTTCCGACCCAAGGAC	0.577000														7			6		0	0	0.00116845	0	0
F5	2153	broad.mit.edu	37	1	169484697	169484697	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:169484697G>A	uc001ggg.1	-	23	6658	c.6513C>T	c.(6511-6513)tcC>tcT	p.S2171S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2171	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCACCATGGAGGATTTCAGCC	0.438000														125			27		0	0	0.000692331	0	0
SDK1	221935	broad.mit.edu	37	7	4218131	4218132	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:4218131_4218132CG>AT	uc003smx.3	+	34	5150_5151	c.5011_5012CG>AT	c.(5011-5013)cgg>ATg	p.R1671M	SDK1_uc010kso.3_Missense_Mutation_p.R927M|SDK1_uc003smy.3_Missense_Mutation_p.R158M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1671	Fibronectin type-III 10.				cell adhesion	integral to membrane		p.R1671L(2)		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)		AAAGAAGTACCGGCGCTATGAA	0.525000														268			7		0	0	6.4e-05	0	0
OR4C46	119749	broad.mit.edu	37	11	51515514	51515514	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:51515514A>G	uc010ric.2	+	0	233	c.233A>G	c.(232-234)aAc>aGc	p.N78S		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AATACCCCTAACCTGATCACA	0.493000														74			44		0	0	0.000680045	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340903	39340903	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:39340903G>A	uc002hwe.4	-	0	245	c.204C>T	c.(202-204)gtC>gtT	p.V68V	KRTAP4-1_uc010cxm.1_Non-coding_Transcript	NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA.	68	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCTGACAACAGACTGGGTGGC	0.642000														31			27		0	0	0.000878237	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952792	16952792	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrY:16952792G>A	uc011nas.1	+	6	2340	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	NLGN4Y_uc004fte.2_Missense_Mutation_p.D533N|NLGN4Y_uc004ftg.2_Missense_Mutation_p.D701N|NLGN4Y_uc004ftf.2_Missense_Mutation_p.D394N|NLGN4Y_uc004fth.2_Missense_Mutation_p.D701N	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	701					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CTACAAAAAGGACAAGAGGCG	0.502000														23			19		0	0	0.00074312	0	0
PRAM1	84106	broad.mit.edu	37	19	8564377	8564377	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8564377C>T	uc002mkd.3	-	1	378	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	153	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCGGGGGCTTCTTGGGGAGGT	0.657000														273			52		0	0	0.000781405	0	0
ZNF649	65251	broad.mit.edu	37	19	52400175	52400175	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:52400175G>A	uc002pxy.3	-	2	398	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CAGGGCTCAGGAACTGCCACT	0.512000														94			45		0	0	0.000781405	0	0
CAPN5	726	broad.mit.edu	37	11	76825396	76825396	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:76825396C>T	uc009yup.3	+	5	920	c.735C>T	c.(733-735)gcC>gcT	p.A245A	CAPN5_uc001oxx.3_Silent_p.A205A|CAPN5_uc009yuq.3_Silent_p.A241A|CAPN5_uc001oxy.3_Silent_p.A245A	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	205	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTGACTTTGCCAACGATGAGA	0.577000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		186			95		0	0	0.000781405	0	0
ERC2	26059	broad.mit.edu	37	3	56468774	56468774	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:56468774G>A	uc021wzo.1	-	0	402	c.262C>T	c.(262-264)Cga>Tga	p.R88*	ERC2_uc003dhr.1_Nonsense_Mutation_p.R88*	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	88						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TATACAGCTCGATTTGTAGCC	0.498000														88			25		0	0	0.00209593	0	0
ICAM4	3386	broad.mit.edu	37	19	10398348	10398348	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:10398348C>T	uc002mnr.2	+	1	500	c.454C>T	c.(454-456)Cga>Tga	p.R152*	ICAM4_uc002mns.2_Silent_p.S177S|ICAM4_uc002mnt.2_Silent_p.S177S|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCATCTATTCCGAAAGCCTGG	0.602000														49			22		0	0	0.00152264	0	0
GPR97	222487	broad.mit.edu	37	16	57713196	57713196	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:57713196C>T	uc002emh.3	+	4	703	c.600C>T	c.(598-600)atC>atT	p.I200I	GPR97_uc010vhv.2_Silent_p.I80I|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	200					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCTGGAGATCGTCTTCTCTC	0.647000														47			28		0	0	0.000491102	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645168	100645168	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:100645168C>T	uc003dun.3	-	1	343	c.258G>A	c.(256-258)ggG>ggA	p.G86G	ABI3BP_uc003duo.2_Silent_p.G79G|ABI3BP_uc003dup.4_Silent_p.G79G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	86						extracellular space		p.G86R(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTGTGAATTTCCCTTCAGCGG	0.473000														24			19		0	0	0.00229938	0	0
UBQLN1	29979	broad.mit.edu	37	9	86300962	86300962	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:86300962G>A	uc004amv.3	-	1	863	c.289C>T	c.(289-291)Cat>Tat	p.H97Y	UBQLN1_uc004amw.3_Missense_Mutation_p.H97Y	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	97	Ubiquitin-like.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	p.I96I(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGTCCATCATGAATTCCATGC	0.328000														32			19		0	0	0.000958276	0	0
SH2D4B	387694	broad.mit.edu	37	10	82330031	82330031	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:82330031G>A	uc001kck.1	+	1	736	c.306G>A	c.(304-306)gaG>gaA	p.E102E	SH2D4B_uc001kcl.1_Silent_p.E53E	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	101	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TGATTGCAGAGAGGGCGCGGC	0.607000														77			21		0	0	0.00188189	0	0
SZT2	23334	broad.mit.edu	37	1	43896733	43896733	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:43896733C>T	uc001cjk.2	+	31	4801	c.2191C>T	c.(2191-2193)Ccc>Tcc	p.P731S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1630						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGTGGAGCTCCCCACGGCCTC	0.602000														75			12		0	0	0.00136819	0	0
POTEE	445582	broad.mit.edu	37	2	132021872	132021872	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:132021872C>T	uc002tsn.2	+	14	2896	c.2844C>T	c.(2842-2844)atC>atT	p.I948I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.I548I|POTEE_uc002tsl.2_Silent_p.I530I|POTEE_uc010fmy.1_Silent_p.I412I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	948	Actin-like.						ATP binding										GCCAGGTCATCACCATCGGCA	0.607000														108			8		0	0	0.00074312	0	0
PCDH18	54510	broad.mit.edu	37	4	138452408	138452408	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:138452408C>T	uc003ihe.4	-	0	1222	c.835G>A	c.(835-837)Ggg>Agg	p.G279R	PCDH18_uc003ihf.4_Missense_Mutation_p.G272R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.G59R|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	279	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACAATTTTCCCATTAGCGCCC	0.388000														41			9		0	0	0.000673444	0	0
NBEAL1	65065	broad.mit.edu	37	2	204078284	204078284	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:204078284C>T	uc002uzt.3	+	53	8224	c.7891C>T	c.(7891-7893)Cat>Tat	p.H2631Y	NBEAL1_uc021vvj.1_Missense_Mutation_p.H1265Y|NBEAL1_uc002uzu.3_Missense_Mutation_p.H126Y	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2631							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTGCCTATCCATTGTGTTTG	0.383000														611			176		0	0	0.000781405	0	0
AGAP9	642517	broad.mit.edu	37	10	47193377	47193377	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:47193377T>C	uc009xnf.2	-	7	854	c.742A>G	c.(742-744)Atg>Gtg	p.M248V	AGAP9_uc001jei.3_Non-coding_Transcript	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	248					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GACCAGCGCATGGACAGCTTG	0.582000														33			5		0	0	0.00116845	0	0
EIF4G1	1981	broad.mit.edu	37	3	184042702	184042702	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:184042702G>A	uc003fnp.3	+	17	2927	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	EIF4G1_uc003fno.2_Missense_Mutation_p.E827K|EIF4G1_uc010hxw.2_Missense_Mutation_p.E722K|EIF4G1_uc010hxx.3_Missense_Mutation_p.E893K|EIF4G1_uc003fnt.3_Missense_Mutation_p.E597K|EIF4G1_uc010hxy.3_Missense_Mutation_p.E893K|EIF4G1_uc003fnq.3_Missense_Mutation_p.E799K|EIF4G1_uc003fnr.3_Missense_Mutation_p.E722K|EIF4G1_uc003fns.3_Missense_Mutation_p.E846K|EIF4G1_uc003fnv.4_Missense_Mutation_p.E887K|EIF4G1_uc003fnw.3_Missense_Mutation_p.E893K|EIF4G1_uc003fnx.3_Missense_Mutation_p.E691K|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	886	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGCTGGAAGAGGCTCGGGA	0.488000														103			51		0	0	0.000781405	0	0
LPHN2	23266	broad.mit.edu	37	1	82416777	82416777	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:82416777C>T	uc001dit.4	+	7	1749	c.1568C>T	c.(1567-1569)tCa>tTa	p.S523L	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.S523L|LPHN2_uc001div.3_Missense_Mutation_p.S523L|LPHN2_uc009wcd.3_Missense_Mutation_p.S523L|LPHN2_uc001diw.3_Missense_Mutation_p.S94L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	523					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S523*(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACTGTACCTCACACTGGGTG	0.418000														56			16		0	0	0.000422831	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779100	31779101	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:31779100_31779101CC>AA	uc003nxh.3	-	1	832_833	c.649_650GG>TT	c.(649-651)ggg>TTg	p.G217L	HSPA1L_uc010jte.3_Missense_Mutation_p.G217L|HSPA1L_uc021yuz.1_Missense_Mutation_p.G217L	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	217					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCAAAAATCCCATCATCTATG	0.480000														524			11		0	0	6.4e-05	0	0
ACMSD	130013	broad.mit.edu	37	2	135621039	135621039	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:135621039C>T	uc002ttz.3	+	4	391	c.324C>T	c.(322-324)ccC>ccT	p.P108P	ACMSD_uc002tua.3_Silent_p.P50P	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	108					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TGAGCTACCCCAGGAGGTTCG	0.587000														76			31		0	0	0.00178596	0	0
abParts	0	broad.mit.edu	37	14	107218772	107218772	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:107218772G>A	uc021ser.1	-	12		c.991C>T								Parts of antibodies, mostly variable regions.																		TGGTGAATCGGCCCTTCACGG	0.547000														132			30		0	0	0.0024448	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055884	68055884	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:68055884C>A	uc003dnd.3	+	1	331	c.115C>A	c.(115-117)Cca>Aca	p.P39T	FAM19A1_uc003dne.3_Missense_Mutation_p.P39T|FAM19A1_uc003dng.3_Missense_Mutation_p.P39T|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	39						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CCTGCACAGACCAGGTAAGTC	0.493000														71			27		4.7796e-09	2.27416e-08	0.000720815	1	0
FAM13C	220965	broad.mit.edu	37	10	61112191	61112191	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:61112191C>T	uc010qif.1	-	2	295	c.229G>A	c.(229-231)Gta>Ata	p.V77I	FAM13C_uc010qid.2_5'UTR|FAM13C_uc001jkn.3_Missense_Mutation_p.V55I|FAM13C_uc001jko.3_Missense_Mutation_p.V55I|FAM13C_uc010qie.2_5'UTR|FAM13C_uc001jkp.3_5'UTR	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	55										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCTCTTCTACCAGAGCCCCT	0.498000														16			4		0	0	0.000602214	0	0
PCSK2	5126	broad.mit.edu	37	20	17446151	17446151	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:17446151C>T	uc002wpm.3	+	10	1737	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	PCSK2_uc002wpl.3_Silent_p.T442T|PCSK2_uc010zrm.2_Silent_p.T426T|PCSK2_uc002wpn.3_Silent_p.T115T	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	461					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.T461I(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGGAAAACCGTGCCTGAGA	0.567000														26			6		0	0	0.00198382	0	0
AK302694	0	broad.mit.edu	37	10	30998303	30998303	+	Silent	SNP	C	T	T	rs113012238	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:30998303C>T	uc010qdx.1	+	7	1391	c.849C>T	c.(847-849)ttC>ttT	p.F283F						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CCACGGAGTTCGTGTACCCTG	0.587000														42			9		0	0	0.000978159	0	0
ACOT11	26027	broad.mit.edu	37	1	55060346	55060346	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:55060346A>T	uc001cxm.2	+	5	765	c.589A>T	c.(589-591)Aac>Tac	p.N197Y	ACOT11_uc001cxj.2_Missense_Mutation_p.N75Y|ACOT11_uc001cxk.3_Missense_Mutation_p.N163Y|ACOT11_uc001cxl.2_Missense_Mutation_p.N197Y	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	197					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCTCCTGGCCAACTGCGCCAT	0.667000														69			15		0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9091108	9091108	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9091108G>A	uc002mkp.3	-	0	911	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	236	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAAGGAAGGAAGAATAAAG	0.463000														62			18		0	0	0.00121646	0	0
GHR	2690	broad.mit.edu	37	5	42718993	42718993	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:42718993G>A	uc021xxv.1	+	9	1542	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	GHR_uc003jmt.3_Missense_Mutation_p.E462K|GHR_uc003jmu.3_Missense_Mutation_p.E462K|GHR_uc003jmv.2_Missense_Mutation_p.E462K|GHR_uc021xxw.1_Missense_Mutation_p.E462K|GHR_uc021xxx.1_Missense_Mutation_p.E462K|GHR_uc021xxy.1_Missense_Mutation_p.E462K|GHR_uc021xxz.1_Missense_Mutation_p.E462K|GHR_uc021xya.1_Missense_Mutation_p.E462K|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.E275K|GHR_uc021xyd.1_Missense_Mutation_p.E440K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	462					2-oxoglutarate metabolic process|JAK-STAT cascade|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|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)	ACTTCCTACTGAAGGAGCTGA	0.453000														25			6		0	0	0.00198382	0	0
SLC4A4	8671	broad.mit.edu	37	4	72317009	72317009	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:72317009G>A	uc010iic.3	+	10	1430	c.1313G>A	c.(1312-1314)cGa>cAa	p.R438Q	SLC4A4_uc003hfy.3_Missense_Mutation_p.R438Q|SLC4A4_uc010iib.3_Missense_Mutation_p.R438Q|SLC4A4_uc003hfz.3_Missense_Mutation_p.R438Q|SLC4A4_uc003hgc.4_Missense_Mutation_p.R394Q|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.R316Q|SLC4A4_uc003hgb.3_Missense_Mutation_p.R394Q	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	438						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAATTGCAGCGAACTGGACGG	0.428000														28			12		0	0	0.00185496	0	0
CCDC69	26112	broad.mit.edu	37	5	150578636	150578636	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:150578636C>T	uc003ltq.3	-	3	364	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	CCDC69_uc010jhu.3_5'UTR|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	81										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTCCCTTTCCTTCTCCACC	0.552000														67			11		0	0	0.00136819	0	0
DICER1	23405	broad.mit.edu	37	14	95570042	95570042	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95570042G>A	uc001ydw.2	-	21	3903	c.3691C>T	c.(3691-3693)Ccc>Tcc	p.P1231S	DICER1_uc010avh.1_Missense_Mutation_p.P129S|DICER1_uc021sbc.1_Missense_Mutation_p.P1231S|DICER1_uc001ydv.2_Missense_Mutation_p.P1221S|DICER1_uc001ydx.2_Missense_Mutation_p.P1231S|DICER1_uc001ydy.1_Missense_Mutation_p.P83S|DICER1_uc021sbd.1_Missense_Mutation_p.P513S	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1231					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCATCGCTGGGCTGGGGCTGG	0.433000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					45			10		0	0	0.00185496	0	0
ANO4	121601	broad.mit.edu	37	12	101295594	101295594	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:101295594G>A	uc010svm.1	+	1	603	c.31G>A	c.(31-33)Gga>Aga	p.G11R	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G11R|ANO4_uc001thx.2_Missense_Mutation_p.G11R	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	11						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AATCACTAATGGAAAAACCAA	0.498000										HNSCC(74;0.22)				72			33		0	0	0.000491102	0	0
ASTL	431705	broad.mit.edu	37	2	96799745	96799745	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:96799745C>T	uc010yui.2	-	3	296	c.296G>A	c.(295-297)aGt>aAt	p.S99N		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	99					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CACGACACCACTACCACCCAT	0.612000														45			9		0	0	0.00136819	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053788	95053788	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95053788G>A	uc001ydm.2	+	2	299	c.89G>A	c.(88-90)aGa>aAa	p.R30K	SERPINA5_uc010ave.2_Missense_Mutation_p.R30K|SERPINA5_uc001ydn.1_Missense_Mutation_p.R30K	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	30					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ATGAAGAAGAGAGTCGAGGAC	0.627000														29			9		0	0	0.000274275	0	0
NUP210	23225	broad.mit.edu	37	3	13420428	13420428	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:13420428G>A	uc003bxv.1	-	7	1112	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V	NUP210_uc003bxx.3_Silent_p.V15V	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	343					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATCCAGGTTCGACCACGTAGA	0.448000														143			55		0	0	0.000781405	0	0
MAP2K6	5608	broad.mit.edu	37	17	67519782	67519782	+	Splice_Site	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:67519782C>A	uc002jij.3	+	8	951	c.663_splice	c.e8+1	p.A221_splice		NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	221	Protein kinase.				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CATACATGGCCGTAAGTACAT	0.453000														98			5		0.00116845	0.00550051	0.00116845	1	0
DNAJB6	10049	broad.mit.edu	37	7	157175009	157175009	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:157175009C>T	uc003wnk.3	+	5	571	c.416C>T	c.(415-417)tCg>tTg	p.S139L	DNAJB6_uc003wnj.3_Missense_Mutation_p.S139L|DNAJB6_uc003wnl.3_Missense_Mutation_p.S126L|DNAJB6_uc011kvy.2_Missense_Mutation_p.S90L|DNAJB6_uc011kvz.2_Intron|DNAJB6_uc010lqt.3_Missense_Mutation_p.S139L	NM_058246	NP_490647	O75190	DNJB6_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA.	139	Gly/Phe-rich.|Interaction with HSP70.|Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GGGACGGGGTCGTTTTTCTCT	0.423000														95			19		0	0	0.00152264	0	0
WRN	7486	broad.mit.edu	37	8	30916728	30916728	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30916728C>T	uc003xio.4	+	2	944	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	52	Interaction with WRNIP1 (By similarity).				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCACTGGATCCATTGTGTATA	0.363000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					154			18		0	0	0.00188189	0	0
DPT	1805	broad.mit.edu	37	1	168698194	168698194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:168698194C>T	uc001gfp.3	-	0	249	c.219G>A	c.(217-219)tgG>tgA	p.W73*		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	73	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					AGGCGTAGTTCCATTGTCTGT	0.587000														54			25		0	0	0.00127121	0	0
GAN	8139	broad.mit.edu	37	16	81398669	81398669	+	Missense_Mutation	SNP	C	T	T	rs150043237	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:81398669C>T	uc002fgo.3	+	7	1475	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	443					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GTGTTATGATCCCAGGACCCA	0.502000														18			14		0	0	0.000219431	0	0
DCLK1	9201	broad.mit.edu	37	13	36700082	36700082	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:36700082C>T	uc001uvf.3	-	1	476	c.193G>A	c.(193-195)Gga>Aga	p.G65R		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	65	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.G65R(3)|p.N64K(1)|p.N64N(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TATCGATCTCCGTTTCGATAG	0.557000														54			11		0	0	0.000978159	0	0
OR1B1	347169	broad.mit.edu	37	9	125391017	125391017	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125391017G>A	uc011lyz.2	-	0	798	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGGGAGGCTGGAAGTAGACAC	0.522000														38			14		0	0	0.000308642	0	0
HHLA2	11148	broad.mit.edu	37	3	108072555	108072555	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:108072555G>A	uc003dwz.3	+	3	760	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	HHLA2_uc011bhl.2_Missense_Mutation_p.E52K|HHLA2_uc010hpu.3_Missense_Mutation_p.E116K|HHLA2_uc003dwy.4_Missense_Mutation_p.E116K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	116	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CCTTCTGGACGAAGGAATTTA	0.398000														37			6		0	0	0.000157383	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905757	132905757	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:132905757C>T	uc002tti.3	-	6		c.1134G>A			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						GGTGTTCTTTCCGCCAAGGGT	0.433000														29			13		0	0	0.000422831	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460585	32460585	+	RNA	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:32460585C>T	uc021qfr.1	+	0		c.1111C>T			WT1-AS_uc010rec.2_Non-coding_Transcript|WT1-AS_uc010red.2_Non-coding_Transcript					Homo sapiens Wilms tumor upstream neighbor 1, mRNA (cDNA clone IMAGE:3633024).											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						TTACTTTCACCCCGGCGCTGT	0.607000														63			8		0	0	0.000978159	0	0
ESYT1	23344	broad.mit.edu	37	12	56536073	56536073	+	Missense_Mutation	SNP	G	T	T	rs144008887		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:56536073G>T	uc001sjr.3	+	24	2745	c.2627G>T	c.(2626-2628)cGg>cTg	p.R876L	ESYT1_uc001sjq.3_Missense_Mutation_p.R866L	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	866	C2 4.					integral to membrane		p.R866L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCACAGGTTCGGGGTGAGGGC	0.547000														148			9		0.000978159	0.00460835	0.000978159	1	0
CARS	833	broad.mit.edu	37	11	3028115	3028115	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:3028115G>A	uc001lxf.3	-	18	2227	c.2143C>T	c.(2143-2145)Cac>Tac	p.H715Y	CARS_uc009ydu.3_Non-coding_Transcript|CARS_uc010qxo.2_Missense_Mutation_p.H715Y|CARS_uc001lxe.3_Missense_Mutation_p.H622Y|CARS_uc001lxg.3_Missense_Mutation_p.H632Y|CARS_uc001lxh.3_Missense_Mutation_p.H632Y|CARS_uc010qxp.2_Missense_Mutation_p.H645Y	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	632					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCACCTTCGTGGTCTTCAAAC	0.587000			T	ALK	ALCL									244			40		0	0	0.000781405	0	0
COL2A1	1280	broad.mit.edu	37	12	48374406	48374406	+	Silent	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:48374406T>A	uc001rqu.3	-	38	2737	c.2556A>T	c.(2554-2556)ggA>ggT	p.G852G	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.G783G	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	852	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGCCGGCCTCTCCTTGCTCAC	0.617000														19			5		0	0	0.00116845	0	0
HRNR	388697	broad.mit.edu	37	1	152188457	152188457	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152188457C>T	uc001ezt.1	-	2	5724	c.5648G>A	c.(5647-5649)gGt>gAt	p.G1883D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1883					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGTAACCAGAGGACTG	0.552000														809			24		0	0	0.000814825	0	0
TTN	7273	broad.mit.edu	37	2	179413186	179413186	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179413186C>T	uc021vsy.1	-	287	85688	c.85463G>A	c.(85462-85464)cGa>cAa	p.R28488Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22183Q|TTN_uc021vta.1_Missense_Mutation_p.R22116Q|TTN_uc021vtb.1_Missense_Mutation_p.R21991Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29415	Ig-like 132.						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)			ACTTGCCTCTCGTTTCTCTAC	0.493000														90			29		0	0	0.00106085	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891160	4891160	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4891160C>T	uc002mbm.3	-	2	927	c.927G>A	c.(925-927)aaG>aaA	p.K309K		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	309					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAACTTTGGCCTTGAGGCTGG	0.592000														184			63		0	0	0.000781405	0	0
EFHB	151651	broad.mit.edu	37	3	19975029	19975029	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:19975029G>A	uc003cbl.4	-	0	678	c.482C>T	c.(481-483)cCt>cTt	p.P161L	EFHB_uc003cbm.3_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	161					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AACGAAAGCAGGCTTTCCCAC	0.498000														100			29		0	0	0.000491102	0	0
FREM2	341640	broad.mit.edu	37	13	39263937	39263937	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:39263937C>T	uc001uwv.3	+	0	2765	c.2456C>T	c.(2455-2457)aCc>aTc	p.T819I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	819					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTACCTTTACCCTTTACTTG	0.562000														45			8		0	0	0.000157383	0	0
SCN5A	6331	broad.mit.edu	37	3	38655273	38655273	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38655273G>A	uc021wvo.1	-	4	716	c.664C>T	c.(664-666)Cga>Tga	p.R222*	SCN5A_uc021wvk.1_Intron|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Intron|SCN5A_uc021wvn.1_Nonsense_Mutation_p.R222*|SCN5A_uc021wvp.1_Intron|SCN5A_uc021wvq.1_Nonsense_Mutation_p.R222*|SCN5A_uc021wvr.1_Nonsense_Mutation_p.R222*|SCN5A_uc021wvs.1_Intron|SCN5A_uc021wvt.1_Intron|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Intron|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Intron|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	222					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGAGGACTCGGAAGGTGCGT	0.483000														19			4		0	0	0.00116845	0	0
CBL	867	broad.mit.edu	37	11	119148881	119148881	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:119148881A>T	uc001pwe.3	+	7	1239	c.1101A>T	c.(1099-1101)caA>caT	p.Q367H		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	367	Asp/Glu-rich (acidic).|Linker.		Q -> P (in NSLL; causes impaired CBL- mediated degradation of cell-surface receptors in a dominant-negative fashion).		epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_Q409del(26)|p.?(3)|p.E366_K477del(2)|p.E366K(2)|p.Q367R(2)|p.Q367_Y368insQ(2)|p.K322_D460del(1)|p.Q365_E366insSK(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAAAGGAACAATATGAATTAT	0.299000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					24			18		0	0	0.000958276	0	0
ATHL1	80162	broad.mit.edu	37	11	293665	293665	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:293665C>T	uc010qvu.2	+	9	1667	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	ATHL1_uc001lor.4_Intron|ATHL1_uc001lou.4_Missense_Mutation_p.R93C|ATHL1_uc001lov.4_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	518					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCTGATGTTCGCAGGAAAAA	0.612000														110			16		0	0	0.00074312	0	0
OR2A7	401427	broad.mit.edu	37	7	143956059	143956059	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143956059G>A	uc011kuc.2	-	0	663	c.663C>T	c.(661-663)ctC>ctT	p.L221L	OR2A9P_uc003wec.1_Intron|OR2A9P_uc003wed.3_5'Flank	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GGATAGCACAGAGGATGCACA	0.488000														125			11		0	0	0.00178596	0	0
FAN1	22909	broad.mit.edu	37	15	31218056	31218056	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:31218056C>T	uc001zff.3	+	9	2693	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	FAN1_uc001zfe.3_Missense_Mutation_p.A406V	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	801					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GTGATGGAGGCCGGGGAGGCC	0.587000								Direct reversal of damage						184			37		0	0	0.000953801	0	0
OR4D2	124538	broad.mit.edu	37	17	56247718	56247718	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:56247718G>A	uc010wnp.2	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						AGGCAAGAAGGAAGGCAGCTT	0.537000														41			22		0	0	0.00188189	0	0
LYPD2	137797	broad.mit.edu	37	8	143832508	143832508	+	Missense_Mutation	SNP	C	T	T	rs145933616	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:143832508C>T	uc003ywz.3	-	1	222	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	Homo sapiens LY6/PLAUR domain containing 2 (LYPD2), mRNA.	47	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	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)					CACATGGTTTCGTTGGTGGTG	0.652000														108			29		0	0	0.000953801	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195625	18195625	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18195625C>T	uc001mnv.1	+	0	1242	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	274						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTACTTCTTCGTGGGCTCCT	0.488000														80			25		0	0	0.000878237	0	0
TRPM8	79054	broad.mit.edu	37	2	234847758	234847758	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:234847758C>T	uc002vvh.3	+	4	505	c.465C>T	c.(463-465)ttC>ttT	p.F155F	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.F105F|TRPM8_uc002vvj.3_Silent_p.F78F	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	155						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCAAGAACTTCGCCCTGAAGC	0.607000														42			17		0	0	0.000566183	0	0
ACO2	50	broad.mit.edu	37	22	41924005	41924005	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:41924005G>A	uc003bac.3	+	16	2209	c.2187G>A	c.(2185-2187)ctG>ctA	p.L729L	POLR3H_uc003baf.3_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	729					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TTCAGGGCCTGAAGGACTTCA	0.617000														168			45		0	0	0.000781405	0	0
TEFM	79736	broad.mit.edu	37	17	29226340	29226340	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:29226340C>T	uc002hfu.2	-	3	1000	c.930G>A	c.(928-930)aaG>aaA	p.K310K	TEFM_uc002hfv.2_Non-coding_Transcript	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	Homo sapiens transcription elongation factor, mitochondrial (TEFM), nuclear gene encoding mitochondrial protein, mRNA.	310					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GAGGATCCGCCTTCAGTATAG	0.408000														64			45		0	0	0.000781405	0	0
MYOM3	127294	broad.mit.edu	37	1	24410969	24410969	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:24410969G>A	uc001bin.4	-	15	2122	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	MYOM3_uc001bim.4_Silent_p.I310I|MYOM3_uc001bio.3_Silent_p.I653I|MYOM3_uc001bip.1_Silent_p.I310I	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	653	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGTGCCTTGGATGGGTTTGT	0.468000														116			26		0	0	0.00178596	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233848	61233848	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61233848G>A	uc010xeo.2	+	6	882	c.882G>A	c.(880-882)agG>agA	p.R294R	SERPINB12_uc010xen.2_Silent_p.R274R	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	274					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGCTTGAAAGGAAAATCACCT	0.463000														87			34		0	0	0.000814825	0	0
OR4N2	390429	broad.mit.edu	37	14	20295759	20295759	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20295759C>T	uc010tkv.2	+	0	152	c.152C>T	c.(151-153)tCa>tTa	p.S51L		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCATAAAGTCAGACCCTGGG	0.468000														168			31		0	0	0.00058488	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766392	19766392	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:19766392G>A	uc002nnh.4	-	9	1369	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Silent_p.F329F	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	447					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAAGAGGATGAAGATGAAGG	0.592000														58			12		0	0	0.00185496	0	0
ZNF846	162993	broad.mit.edu	37	19	9868406	9868407	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9868406_9868407GG>AA	uc002mmb.1	-	5	1877_1878	c.1346_1347CC>TT	c.(1345-1347)gcc>gTT	p.A449V	ZNF846_uc021uoq.1_Intron|ZNF846_uc010dww.3_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.A320V	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TACATTCACAGGCCTTTTCTCC	0.431000														58			17		0	0	6.4e-05	0	0
ZNF407	55628	broad.mit.edu	37	18	72775756	72775756	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:72775756G>A	uc002llw.2	+	7	6132	c.6079G>A	c.(6079-6081)Gag>Aag	p.E2027K		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	2027					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCCCGGGCAGGAGGTCTCCCA	0.692000														36			11		0	0	0.000219431	0	0
C3AR1	719	broad.mit.edu	37	12	8212126	8212126	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:8212126T>A	uc001qtv.1	-	1	748	c.656A>T	c.(655-657)aAt>aTt	p.N219I	C3AR1_uc021quj.1_Missense_Mutation_p.N219I	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	219					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGATGATCATTTGTTTGGAA	0.428000														55			31		0	0	0.00178596	0	0
ZNF536	9745	broad.mit.edu	37	19	30936617	30936617	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:30936617C>T	uc002nsu.1	+	1	2286	c.2148C>T	c.(2146-2148)caC>caT	p.H716H	ZNF536_uc010edd.1_Silent_p.H716H	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCCCGCACCCCTCCTCGC	0.677000														19			14		0	0	0.00074312	0	0
C3orf39	84892	broad.mit.edu	37	3	43122090	43122090	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:43122090G>A	uc003cmr.1	-	1	1177	c.834C>T	c.(832-834)agC>agT	p.S278S	C3orf39_uc003cmq.1_Silent_p.S278S|C3orf39_uc021wwn.1_Silent_p.S278S	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	278						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CTCCTGTGTGGCTCACGTTCA	0.567000														115			35		0	0	0.00195071	0	0
DNAJB12	54788	broad.mit.edu	37	10	74096383	74096383	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:74096383G>A	uc001jsz.2	-	6	1157	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	DNAJB12_uc001jta.2_Missense_Mutation_p.S336F|DNAJB12_uc010qjv.1_Missense_Mutation_p.S336F	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	302				S -> K (in Ref. 1; BAA90896/BAB15289/ BAH13619 and 2; AAH11812/AAH64920).	protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						GTACTCTTCGGAGAAAGTGTC	0.542000														103			26		0	0	0.00127121	0	0
BEND7	222389	broad.mit.edu	37	10	13481460	13481460	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:13481460C>T	uc001imm.2	-	8	1416	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	BEND7_uc001iml.2_Non-coding_Transcript	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	424	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CCGCTGCACTCCCACCCGGCA	0.532000														38			17		0	0	0.000566183	0	0
SCN10A	6336	broad.mit.edu	37	3	38797282	38797282	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38797282C>T	uc003ciq.3	-	9	1458	c.1458G>A	c.(1456-1458)agG>agA	p.R486R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	486					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)	ctcttaccatcctgcgctGGT	0.498000														116			40		0	0	0.000509022	0	0
ZFX	7543	broad.mit.edu	37	X	24197304	24197304	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:24197304T>C	uc011mjv.2	+	4	429	c.180T>C	c.(178-180)gcT>gcC	p.A60A	ZFX_uc004dbd.2_Silent_p.A21A|ZFX_uc004dbf.3_Silent_p.A21A|ZFX_uc004dbe.3_Silent_p.A21A|ZFX_uc022bua.1_Silent_p.A21A|ZFX_uc010nfx.2_Intron|ZFX_uc010nfy.1_Silent_p.A21A	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTTAAGGAGCTGATGGTACAC	0.323000														43			22		0	0	0.00229938	0	0
CSF1R	1436	broad.mit.edu	37	5	149449570	149449570	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149449570C>T	uc003lrl.3	-	8	1571	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	CSF1R_uc011dcd.2_Missense_Mutation_p.S311N|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.S459N	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	459	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.S459S(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGCTCCTGGCTCAGGACCTC	0.592000														54			10		0	0	0.00185496	0	0
SP5	389058	broad.mit.edu	37	2	171573029	171573029	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:171573029C>T	uc002uge.3	+	1	478	c.312C>T	c.(310-312)tcC>tcT	p.S104S	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						TGCAGCCGTCCTTCGGGGCTG	0.711000														24			7		0	0	0.00198382	0	0
SCN5A	6331	broad.mit.edu	37	3	38671899	38671899	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38671899C>T	uc021wvo.1	-	1	347	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	SCN5A_uc021wvk.1_Missense_Mutation_p.G99S|SCN5A_uc021wvl.1_Missense_Mutation_p.G99S|SCN5A_uc021wvm.1_Missense_Mutation_p.G99S|SCN5A_uc021wvn.1_Missense_Mutation_p.G99S|SCN5A_uc021wvp.1_Missense_Mutation_p.G99S|SCN5A_uc021wvq.1_Missense_Mutation_p.G99S|SCN5A_uc021wvr.1_Missense_Mutation_p.G99S|SCN5A_uc021wvs.1_Missense_Mutation_p.G99S|SCN5A_uc021wvt.1_Missense_Mutation_p.G99S|SCN5A_uc021wvu.1_Missense_Mutation_p.G99S|SCN5A_uc021wvv.1_Missense_Mutation_p.G99S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	99					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGGTCTTGCCTTTATTCAGT	0.522000														123			38		0	0	0.000781405	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468854	241468854	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:241468854G>A	uc010fzd.1	-	4	678	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Silent_p.L96L|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	96							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CGGAACCACAGCCCCACGTCC	0.607000														17			12		0	0	0.000978159	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479974	142479974	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142479974C>T	uc011ksq.2	+	1	189	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		GAATTCTGTCCCCTACCAGGT	0.547000														122			9		0	0	0.000673444	0	0
RPRD2	23248	broad.mit.edu	37	1	150429903	150429903	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:150429903C>T	uc009wlr.3	+	7	1211	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	RPRD2_uc010pcc.1_Missense_Mutation_p.P311L|RPRD2_uc001eup.4_Missense_Mutation_p.P311L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	337							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTGAGTCTCCTTTTCAGGGA	0.502000														140			53		0	0	0.000781405	0	0
FRMD3	257019	broad.mit.edu	37	9	86004545	86004545	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:86004545G>A	uc004ams.2	-	1	428	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	FRMD3_uc004amr.1_Missense_Mutation_p.R76C|FRMD3_uc022bja.1_Missense_Mutation_p.R32C	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	76	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCCACATAGCGAATGCCAAAG	0.498000														32			22		0	0	0.000720815	0	0
KLHL1	57626	broad.mit.edu	37	13	70681351	70681351	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:70681351C>T	uc001vip.3	-	0	1275	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	KLHL1_uc010thm.2_Missense_Mutation_p.E161K|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	161					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCACATCCTTCACCTGTTGCC	0.532000														91			15		0	0	0.00121646	0	0
TUBB8	347688	broad.mit.edu	37	10	94621	94621	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:94621C>T	uc001ifi.2	-	2	211	c.211G>A	c.(211-213)Ggc>Agc	p.G71S		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	71					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TCCATGGTGCCCGGCTCCAGA	0.701000														45			24		0	0	0.00128727	0	0
HTR3A	3359	broad.mit.edu	37	11	113860388	113860388	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:113860388C>T	uc010rxb.2	+	7	1687	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	HTR3A_uc010rxa.2_Missense_Mutation_p.S453F|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.S432F	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	447					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.L484L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGCGTGGGCTCCGTGCTGGAC	0.602000														54			25		0	0	0.000586117	0	0
TEX15	56154	broad.mit.edu	37	8	30703594	30703594	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30703594G>A	uc003xil.3	-	0	2940	c.2940C>T	c.(2938-2940)atC>atT	p.I980I		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	980										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATCACTTAGGATATTTAGGA	0.343000														77			38		0	0	0.000953801	0	0
MME	4311	broad.mit.edu	37	3	154886520	154886520	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:154886520G>A	uc010hvr.1	+	20	2126	c.1915_splice	c.e20-1	p.L639_splice	MME_uc003fab.1_Splice_Site_p.L639_splice|MME_uc003fac.1_Splice_Site_p.L639_splice|MME_uc003fad.1_Splice_Site_p.L639_splice|MME_uc003fae.1_Splice_Site_p.L639_splice	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	639					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTTTTAACAGCTTAATGGAA	0.299000														58			13		0	0	0.00185496	0	0
UHRF1	29128	broad.mit.edu	37	19	4944405	4944405	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4944405C>T	uc002mbp.3	+	7	1580	c.1287C>T	c.(1285-1287)aaC>aaT	p.N429N	UHRF1_uc002mbo.3_Silent_p.N416N|UHRF1_uc010xik.2_Non-coding_Transcript|UHRF1_uc010duf.3_Non-coding_Transcript	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	416	Methyl-CpG binding and interaction with HDAC1.|YDG.				DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCCCGTCCAACCACTACGGAC	0.667000														58			29		0	0	0.00209593	0	0
CDRT1	374286	broad.mit.edu	37	17	15517312	15517312	+	Missense_Mutation	SNP	C	T	T	rs113130850		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:15517312C>T	uc002gor.1	-	8	1973	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	CDRT1_uc002gov.4_Missense_Mutation_p.E236K			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	236										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CTATTCATTTCGGATATACAC	0.483000														79			42		0	0	0.000680045	0	0
NUMB	8650	broad.mit.edu	37	14	73753887	73753887	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:73753887G>C	uc001xny.1	-	8	906	c.586C>G	c.(586-588)Cgt>Ggt	p.R196G	NUMB_uc010aro.1_Missense_Mutation_p.R196G|NUMB_uc010arp.1_Missense_Mutation_p.R185G|NUMB_uc010arq.1_Missense_Mutation_p.R196G|NUMB_uc010arr.1_Missense_Mutation_p.R185G|NUMB_uc001xoa.1_Missense_Mutation_p.R196G|NUMB_uc001xnz.1_Missense_Mutation_p.R185G|NUMB_uc001xob.1_Missense_Mutation_p.R185G|NUMB_uc001xod.1_Missense_Mutation_p.R196G|NUMB_uc001xoc.1_Missense_Mutation_p.R196G|NUMB_uc010ars.1_Missense_Mutation_p.R185G|NUMB_uc001xof.1_Missense_Mutation_p.R160G|NUMB_uc001xog.3_Missense_Mutation_p.R185G|NUMB_uc001xoh.1_Missense_Mutation_p.R185G|NUMB_uc010ttz.1_5'Flank	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	196					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GTTGTGACACGGAATGATCCT	0.448000														86			13		0	0	0.000422831	0	0
PSD2	84249	broad.mit.edu	37	5	139216584	139216584	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:139216584G>A	uc003leu.1	+	9	1797	c.1592G>A	c.(1591-1593)aGg>aAg	p.R531K		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	531	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.K530R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGCAAGAGGAGTGGGTGT	0.642000														47			21		0	0	0.00229938	0	0
PLP2	5355	broad.mit.edu	37	X	49029740	49029740	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:49029740C>T	uc004dmx.3	+	2	419	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_002668	NP_002659	Q04941	PLP2_HUMAN	Homo sapiens proteolipid protein 2 (colonic epithelium-enriched) (PLP2), mRNA.	85	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						CACAGGATTTCTTCCGAACCC	0.532000														18			9		0	0	0.00185496	0	0
TLL1	7092	broad.mit.edu	37	4	166924569	166924569	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:166924569G>A	uc003irh.2	+	5	1306	c.659G>A	c.(658-660)gGa>gAa	p.G220E	TLL1_uc021xud.1_Missense_Mutation_p.G220E|TLL1_uc011cjn.2_Missense_Mutation_p.G220E|TLL1_uc011cjo.2_Missense_Mutation_p.G44E	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	220	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGTCGGCGAGGAAATGGACCT	0.438000														49			8		0	0	0.000157383	0	0
CUBN	8029	broad.mit.edu	37	10	17113553	17113553	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:17113553G>A	uc001ioo.3	-	18	2549	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	833	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P833S(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACACGTTAGGAAAAAAAGGC	0.418000														48			5		0	0	0.000157383	0	0
OR2G3	81469	broad.mit.edu	37	1	247769355	247769355	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:247769355C>T	uc010pyz.2	+	0	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTAGTTCCCTAATCCATG	0.483000														79			30		0	0	0.00178596	0	0
CCR1	1230	broad.mit.edu	37	3	46244938	46244938	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:46244938G>A	uc003cph.1	-	1	938	c.867C>T	c.(865-867)atC>atT	p.I289I	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.I289I	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	289					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCGTGTAGGCGATCACCTCCG	0.522000														17			7		0	0	0.000274275	0	0
GADL1	339896	broad.mit.edu	37	3	30769839	30769839	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:30769839C>T	uc003cep.2	-	14	1508	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R		NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	487					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGACCTTTCCCCGGTGCGGCT	0.557000														40			17		0	0	0.00121646	0	0
CSK	1445	broad.mit.edu	37	15	75091683	75091683	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:75091683C>T	uc010bkb.1	+	5	496	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	CSK_uc002ays.2_Silent_p.L105L|CSK_uc010bkc.1_5'UTR	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	105	SH2.				T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						AGGCCTGTTCCTGGTGCGGGA	0.627000														31			11		0	0	0.000978159	0	0
CHRM1	1128	broad.mit.edu	37	11	62678033	62678033	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:62678033G>A	uc021qko.1	-	0	540	c.540C>T	c.(538-540)atC>atT	p.I180I	CHRM1_uc001nwi.3_Silent_p.I180I	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	180					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	AGAGGAACTGGATGTAGCACT	0.607000														18			7		0	0	0.00198382	0	0
ANO2	57101	broad.mit.edu	37	12	5941763	5941763	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:5941763C>T	uc001qnm.2	-	4	700	c.628G>A	c.(628-630)Gag>Aag	p.E210K	ANO2_uc021qtt.1_Missense_Mutation_p.E214K	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	215						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						GCTTTGATCTCGTACATCTAT	0.517000														7			5		0	0	0.000602214	0	0
H6PD	9563	broad.mit.edu	37	1	9324785	9324785	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:9324785C>T	uc001apt.3	+	4	2506	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	745	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity	p.V744fs*6(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GGTGGCAGTCCTGGTCATGGG	0.657000														50			16		0	0	0.000566183	0	0
OR13C4	138804	broad.mit.edu	37	9	107289317	107289317	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:107289317G>A	uc011lvn.2	-	0	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGAAGTACATGGGCATGTGAA	0.413000														36			22		0	0	0.000375601	0	0
SLC27A2	11001	broad.mit.edu	37	15	50489868	50489868	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50489868C>T	uc001zxw.3	+	1	882	c.650C>T	c.(649-651)tCc>tTc	p.S217F	SLC27A2_uc010bes.3_Missense_Mutation_p.S217F|SLC27A2_uc001zxx.3_5'UTR	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	217					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)		GTCACTTTTTCCACTCCTGCC	0.398000														54			12		0	0	0.000219431	0	0
CDK11B	984	broad.mit.edu	37	1	1573136	1573136	+	Silent	SNP	G	A	A	rs17434073		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:1573136G>A	uc001agv.1	-	13	1529	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	CDK11B_uc009vkj.2_Silent_p.I141I|CDK11B_uc001ags.1_Silent_p.I342I|CDK11B_uc001agt.1_Silent_p.I267I|CDK11B_uc001aha.1_Silent_p.I448I|CDK11B_uc001agw.1_Silent_p.I432I|CDK11B_uc001agy.1_Silent_p.I475I|CDK11B_uc001agx.1_Silent_p.I466I|CDK11B_uc001agz.1_Silent_p.I228I	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	497	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TAACGGTGACGATGTTGGGAT	0.617000														264			44		0	0	0.000781405	0	0
TEKT3	64518	broad.mit.edu	37	17	15212126	15212126	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:15212126C>T	uc002gon.3	-	7	1298	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	371					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGGAAAATCTCCTGCAGGGTC	0.537000														56			47		0	0	0.000781405	0	0
HCLS1	3059	broad.mit.edu	37	3	121350826	121350826	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121350826C>T	uc003eeh.4	-	13	1453	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	HCLS1_uc011bjj.2_Missense_Mutation_p.G406E	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	443	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTCATCACTTCCCTCTGGGGA	0.522000														103			46		0	0	0.000781405	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658121	72658121	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:72658121G>A	uc003txs.1	-	12	1791	c.863C>T	c.(862-864)tCc>tTc	p.S288F	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ccagttcacggacttcactac	0.507000														62			11		0	0	0.000958276	0	0
DDHD1	80821	broad.mit.edu	37	14	53570438	53570438	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:53570438G>A	uc001xai.3	-	1	1205	c.975C>T	c.(973-975)ttC>ttT	p.F325F	DDHD1_uc001xaj.3_Silent_p.F325F|DDHD1_uc001xah.3_Silent_p.F325F	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	325					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCAATATCGAAATTTTCCT	0.338000														44			5		0	0	0.00116845	0	0
SLC9C2	284525	broad.mit.edu	37	1	173486830	173486830	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:173486830G>A	uc001giz.2	-	22	3176	c.2753C>T	c.(2752-2754)tCt>tTt	p.S918F	SLC9C2_uc009wwe.2_Missense_Mutation_p.S476F	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	918					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AAAGGTAGGAGATAAACTATG	0.388000														91			11		0	0	0.00185496	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010858	62010858	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:62010858C>T	uc001ntb.3	+	1	209	c.153C>T	c.(151-153)gcC>gcT	p.A51A		NM_006551	NP_006542	O95969	SG1D2_HUMAN	Homo sapiens secretoglobin, family 1D, member 2 (SCGB1D2), mRNA.	51						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						AATTTGATGCCCCTCCGGAAG	0.478000														49			27		0	0	0.00178596	0	0
MUC17	140453	broad.mit.edu	37	7	100685015	100685015	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100685015C>T	uc003uxp.1	+	2	10371	c.10318C>T	c.(10318-10320)Cct>Tct	p.P3440S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3440	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3439P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACAATCGC	0.512000														110			44		0	0	0.000781405	0	0
PKIA	5569	broad.mit.edu	37	8	79510748	79510749	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:79510748_79510749AG>CA	uc003yba.3	+	2	653_654	c.129_130AG>CA	c.(127-132)gcaggt>gcCAgt	p.G44S	PKIA_uc003ybb.3_Missense_Mutation_p.G44S|PKIA_uc010lzo.3_Missense_Mutation_p.G44S	NM_006823	NP_862822	P61925	IPKA_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor alpha (PKIA), transcript variant 1, mRNA.	44							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						TGAAATTAGCAGGTCTTGATAT	0.391000														61			16		0	0	6.4e-05	0	0
SNTG2	54221	broad.mit.edu	37	2	1093908	1093908	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:1093908G>A	uc002qwq.3	+	2	366	c.237G>A	c.(235-237)caG>caA	p.Q79Q	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	79	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TCCGCAGACAGCCAGTTGGCG	0.368000														355			54		0	0	0.000781405	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26873424	26873424	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:26873424C>T	uc001bmr.1	+	2	338	c.175C>T	c.(175-177)Cca>Tca	p.P59S	RPS6KA1_uc010ofe.1_Intron|RPS6KA1_uc010off.1_Missense_Mutation_p.P43S|RPS6KA1_uc001bms.1_Missense_Mutation_p.P68S|RPS6KA1_uc009vsl.1_5'UTR	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	59					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GAAGGCTGATCCATCCCATTT	0.562000														85			34		0	0	0.000953801	0	0
GPR152	390212	broad.mit.edu	37	11	67219581	67219581	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:67219581G>A	uc001olm.3	-	0	620	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	205						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCAGCAGGAGGAAAGGCAGGA	0.677000														28			25		0	0	0.00106085	0	0
SI	6476	broad.mit.edu	37	3	164773033	164773033	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164773033T>C	uc003fei.3	-	12	1524	c.1461A>G	c.(1459-1461)gcA>gcG	p.A487A		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	487	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	TGCATTCATTTGCCCACCAAT	0.343000										HNSCC(35;0.089)				108			14		0	0	0.000566183	0	0
TRIML2	205860	broad.mit.edu	37	4	189012597	189012597	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:189012597C>T	uc011cle.1	-	7	1541	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E	TRIML2_uc003izj.1_Missense_Mutation_p.G193E|TRIML2_uc003izk.1_Missense_Mutation_p.G173E|TRIML2_uc003izl.2_Missense_Mutation_p.G365E	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	365							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ACTTGTGTCTCCATTTGGGAT	0.463000														74			21		0	0	0.000720815	0	0
F13B	2165	broad.mit.edu	37	1	197026215	197026215	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:197026215C>T	uc001gtt.1	-	6	1143	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	367	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGAAGGTAGCCGCTTTTACAT	0.408000														39			18		0	0	0.000375601	0	0
SPATA4	132851	broad.mit.edu	37	4	177109326	177109326	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:177109326G>A	uc003iuo.1	-	4	858	c.749C>T	c.(748-750)gCc>gTc	p.A250V		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	Homo sapiens spermatogenesis associated 4 (SPATA4), mRNA.	250					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GCGCCCAGAGGCTTGGGCAGG	0.338000														76			7		0	0	0.000442599	0	0
P2RY8	286530	broad.mit.edu	37	X	1584969	1584969	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:1584969G>A	uc022brv.1	-	0	483	c.483C>T	c.(481-483)acC>acT	p.T161T	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.T161T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	161						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)				AGGTGAGATCGGTGCGCGCCA	0.692000			T	CRLF2	"""B-ALL, Downs associated ALL"""									29			5		0	0	0.00198382	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175252	207175252	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207175252G>A	uc002vbp.2	+	4	6250	c.6000G>A	c.(5998-6000)ttG>ttA	p.L2000L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2000							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTAAAGTTTTGAAGCCTATGC	0.373000														27			12		0	0	0.00136819	0	0
C20orf72	92667	broad.mit.edu	37	20	17950806	17950806	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:17950806C>T	uc002wqh.3	+	1	386	c.304C>T	c.(304-306)Cct>Tct	p.P102S	C20orf72_uc010gco.3_Non-coding_Transcript|C20orf72_uc010gcp.3_Intron|SNX5_uc002wqc.3_5'Flank|SNX5_uc002wqd.3_5'Flank|SNX5_uc002wqe.3_5'Flank|SNX5_uc010zrt.1_5'Flank|AK296947_uc021way.1_5'Flank	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	Homo sapiens chromosome 20 open reading frame 72 (C20orf72), mRNA.	102										breast(1)|large_intestine(2)|lung(2)|urinary_tract(2)	7						AAACTGGTTTCCTATCTTCAA	0.488000														96			30		0	0	0.00127121	0	0
WIPF3	644150	broad.mit.edu	37	7	29915505	29915505	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:29915505G>A	uc022aaz.1	+	2	332	c.150G>A	c.(148-150)ttG>ttA	p.L50L	WIPF3_uc003taj.2_Silent_p.L50L	NM_001080529	NP_001073998	B8ZZV2	B8ZZV2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA.	50										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GTGCGCTGTTGGCTGATATCC	0.562000														39			14		0	0	0.000422831	0	0
FAM131B	9715	broad.mit.edu	37	7	143053666	143053666	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143053666C>T	uc010lpa.3	-	6	1204	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	FAM131B_uc010loz.3_Missense_Mutation_p.E294K|FAM131B_uc003wct.3_Missense_Mutation_p.E326K|FAM131B_uc003wcu.4_Missense_Mutation_p.E326K	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	326										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCGCCTTCCTCCTCATCAAAG	0.597000														98			18		0	0	0.00121646	0	0
PXDNL	137902	broad.mit.edu	37	8	52321427	52321427	+	Silent	SNP	G	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:52321427G>C	uc003xqu.4	-	16	2858	c.2757C>G	c.(2755-2757)ctC>ctG	p.L919L	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	919					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.L919L(1)|p.L118L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGTCTTCAGGAGACCCCGAG	0.607000														22			4		0	0	0.00024832	0	0
LAD1	3898	broad.mit.edu	37	1	201355609	201355609	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:201355609C>T	uc001gwm.3	-	2	1115	c.880G>A	c.(880-882)Gag>Aag	p.E294K	LAD1_uc009wzu.1_Missense_Mutation_p.E316K	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	294						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGGCGGCTCCTGCGCCAGG	0.637000														55			30		0	0	0.000692331	0	0
PCSK5	5125	broad.mit.edu	37	9	78973755	78973755	+	Silent	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:78973755C>A	uc004akc.2	+	36	6038	c.5500C>A	c.(5500-5502)Cgg>Agg	p.R1834R		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACAGTCTACCGGAAATTTAA	0.478000														102			10		0.000673444	0.00317651	0.000673444	1	0
MED15	51586	broad.mit.edu	37	22	20929493	20929493	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:20929493C>T	uc002zsp.3	+	8	1326	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	MED15_uc002zsq.3_Intron|MED15_uc010gso.3_Intron|MED15_uc002zsr.3_Intron|MED15_uc011ahs.2_Intron|MED15_uc002zss.3_Intron|MED15_uc011ahu.2_Missense_Mutation_p.P142S|MED15_uc002zst.3_Missense_Mutation_p.P32S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	416	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAGCTCCATCCCTTTGGGCAG	0.627000														44			22		0	0	0.00229938	0	0
LRRC49	54839	broad.mit.edu	37	15	71302271	71302271	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:71302271G>A	uc010ukf.2	+	12	1854	c.1548G>A	c.(1546-1548)tgG>tgA	p.W516*	LRRC49_uc002asu.3_Nonsense_Mutation_p.W501*|LRRC49_uc002asx.3_Nonsense_Mutation_p.W467*|LRRC49_uc002asw.3_Nonsense_Mutation_p.W511*|LRRC49_uc002asy.3_Nonsense_Mutation_p.W217*|LRRC49_uc002asz.3_Nonsense_Mutation_p.W483*	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	511						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTACACTCTGGAAATACTATG	0.358000														47			10		0	0	0.000673444	0	0
COL18A1	80781	broad.mit.edu	37	21	46916446	46916446	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:46916446C>T	uc002zhi.3	+	28	3102	c.3081C>T	c.(3079-3081)ccC>ccT	p.P1027P	COL18A1_uc002zhg.3_Silent_p.P847P	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1262	Nonhelical region 4 (NC4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCAGGGCCCCCAGGCCCTC	0.642000														87			15		0	0	0.00121646	0	0
GPR50	9248	broad.mit.edu	37	X	150348569	150348569	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:150348569G>A	uc010ntg.2	+	1	652	c.514G>A	c.(514-516)Gat>Aat	p.D172N	GPR50_uc011myc.2_Missense_Mutation_p.D172N	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	172					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGAGTACGATCCTCGCAC	0.527000														54			41		0	0	0.00170553	0	0
UGT2B17	7367	broad.mit.edu	37	4	69431373	69431373	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:69431373C>T	uc021xov.1	-	1	833	c.790G>A	c.(790-792)Gat>Aat	p.D264N		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	264					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AATTCAAAATCCCAATAGGTT	0.393000														27			20		0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	9091470	9091470	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9091470C>T	uc002mkp.3	-	0	549	c.345G>A	c.(343-345)agG>agA	p.R115R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	115	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTAGTTCCTAGAGGGAG	0.502000														85			36		0	0	0.00195071	0	0
ALG6	29929	broad.mit.edu	37	1	63862189	63862189	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:63862189G>T	uc021oof.1	+	2	393	c.88G>T	c.(88-90)Ggt>Tgt	p.G30C		NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA.	30					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTTAGGTGCTGGTAAACCGCC	0.328000														143			9		2.17888e-05	0.000103384	0.000442599	1	0
OR10G8	219869	broad.mit.edu	37	11	123901097	123901097	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123901097C>T	uc001pzp.1	+	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGGTCTTTTCATTTACCTGA	0.557000														29			14		0	0	0.000308642	0	0
ADCY5	111	broad.mit.edu	37	3	123014945	123014945	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:123014945G>A	uc003egh.2	-	16	3049	c.3049C>T	c.(3049-3051)Ctc>Ttc	p.L1017F	ADCY5_uc021xdd.1_Missense_Mutation_p.L667F|ADCY5_uc003egg.2_Missense_Mutation_p.L675F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1017					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGTTTCCAGAGGAAGTCGAGG	0.642000														51			11		0	0	0.000673444	0	0
POTEA	340441	broad.mit.edu	37	8	43159870	43159870	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:43159870G>A	uc003xpz.1	+	5	905	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	POTEA_uc003xqa.1_Missense_Mutation_p.E242K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	288										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGACTACAAAGAAAACCAGAT	0.308000														39			13		0	0	0.000308642	0	0
FBXO15	201456	broad.mit.edu	37	18	71797839	71797839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:71797839C>T	uc002llf.2	-	3	467	c.387G>A	c.(385-387)tgG>tgA	p.W129*	FBXO15_uc002lle.2_Nonsense_Mutation_p.W53*	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	53										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AATTAAATTTCCAATTTGATC	0.348000														45			5		0	0	0.000602214	0	0
TRPV5	56302	broad.mit.edu	37	7	142605774	142605774	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142605774C>T	uc003wby.1	-	14	2360	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	699					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCCAGCCTCGGTGACTGCT	0.557000														46			9		0	0	0.000442599	0	0
KCNH5	27133	broad.mit.edu	37	14	63447677	63447677	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:63447677C>T	uc001xfx.3	-	5	906	c.855G>A	c.(853-855)agG>agA	p.R285R	KCNH5_uc001xfy.3_Silent_p.R285R|KCNH5_uc001xfz.1_Silent_p.R227R|KCNH5_uc001xga.3_Silent_p.R227R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GATAGTTCATCCTTATGAGCT	0.413000														45			6		0	0	0.00116845	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959564	45959564	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45959564G>A	uc002zfh.1	-	0	515	c.470C>T	c.(469-471)tCt>tTt	p.S157F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	157	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGAATCCTCAGAGCAGGTGGG	0.612000														94			12		0	0	0.000978159	0	0
GIGYF2	26058	broad.mit.edu	37	2	233674505	233674505	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:233674505C>A	uc002vtj.4	+	17	2212	c.1945C>A	c.(1945-1947)Cag>Aag	p.Q649K	GIGYF2_uc010zmj.1_Missense_Mutation_p.Q628K|GIGYF2_uc002vtg.2_Missense_Mutation_p.Q622K|GIGYF2_uc002vti.4_Missense_Mutation_p.Q628K|GIGYF2_uc002vtk.4_Missense_Mutation_p.Q628K|GIGYF2_uc002vth.4_Missense_Mutation_p.Q622K|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.Q459K|GIGYF2_uc002vtq.4_5'Flank	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	628	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CCTGCAGTACCAGCAGTTTTT	0.443000														143			7		0.000274275	0.00129728	0.000274275	1	0
MUT	4594	broad.mit.edu	37	6	49403246	49403246	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:49403246G>A	uc003ozg.4	-	11	2312	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	683	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGAGTTCAGGAACTAGGGTT	0.483000														14			7		0	0	0.00198382	0	0
NIPBL	25836	broad.mit.edu	37	5	37061013	37061013	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:37061013G>A	uc003jkl.4	+	44	8252	c.7753G>A	c.(7753-7755)Gga>Aga	p.G2585R	NIPBL_uc003jkk.4_Missense_Mutation_p.G2585R|NIPBL_uc003jkn.3_Missense_Mutation_p.G278R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2585					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCGAAAAACAGGAGTTCATTT	0.348000														51			21		0	0	0.00188189	0	0
C9orf78	51759	broad.mit.edu	37	9	132591577	132591577	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:132591577G>A	uc004byp.3	-	7	757	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	C9orf78_uc004byo.3_Missense_Mutation_p.H154Y|C9orf78_uc004byq.1_Missense_Mutation_p.H175Y	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	Homo sapiens chromosome 9 open reading frame 78 (C9orf78), mRNA.	229										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				AGCTCCTCATGATAAACTGGA	0.567000														36			7		0	0	0.00198382	0	0
DSCAM	1826	broad.mit.edu	37	21	41711258	41711258	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:41711258C>T	uc002yyq.1	-	6	1747	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	432	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAAGGTGTTCCCTTCACGTT	0.522000														17			4		0	0	0.00024832	0	0
ZNF35	7584	broad.mit.edu	37	3	44692677	44692677	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:44692677T>C	uc003cnq.3	+	1	339	c.118T>C	c.(118-120)Tcc>Ccc	p.S40P	ZNF35_uc003cnr.3_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	40	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACAAGTGCACTCCGAGAACAT	0.547000														53			12		0	0	0.00185496	0	0
SAP130	79595	broad.mit.edu	37	2	128699646	128699646	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:128699646C>T	uc010fmd.2	-	20	3318	c.3186G>A	c.(3184-3186)ctG>ctA	p.L1062L	SAP130_uc002tpn.2_Silent_p.L787L|SAP130_uc002tpp.2_Silent_p.L1027L	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	1027					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TAAGCAGCTTCAGGACACGGT	0.403000														79			25		0	0	0.000720815	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398107	23398107	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:23398107C>T	uc004dal.4	+	1	759	c.751C>T	c.(751-753)Cct>Tct	p.P251S	PTCHD1_uc010nfu.2_Missense_Mutation_p.P251S	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	251			P -> L.		cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAAAATGTACCCTTACACGTC	0.498000														49			40		0	0	0.00170553	0	0
C7	730	broad.mit.edu	37	5	40936505	40936505	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:40936505G>A	uc003jmh.3	+	4	460	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	116	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CAGTGCTGATGAAGACAGATG	0.453000														20			5		0	0	0.000602214	0	0
OR2A12	346525	broad.mit.edu	37	7	143793110	143793110	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143793110C>T	uc011kty.2	+	0	910	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAGAGAGTCCTTTGGAAACA	0.433000														115			64		0	0	0.000781405	0	0
GML	2765	broad.mit.edu	37	8	143928033	143928033	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:143928033G>A	uc003yxg.3	+	3	494	c.404G>A	c.(403-405)gGa>gAa	p.G135E		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	135					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.G135V(2)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTTCCAGAAGGAACTGTGAGG	0.463000														38			12		0	0	0.000219431	0	0
PTPRE	5791	broad.mit.edu	37	10	129861350	129861350	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:129861350C>T	uc009yat.3	+	10	1079	c.662C>T	c.(661-663)cCc>cTc	p.P221L	PTPRE_uc001lkb.3_Missense_Mutation_p.P210L|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.P210L|PTPRE_uc001lkd.3_Missense_Mutation_p.P152L|PTPRE_uc010quq.1_Missense_Mutation_p.P111L	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	210	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CACACAGGTCCCAAACAGGAA	0.522000														56			14		0	0	0.000566183	0	0
PCLO	27445	broad.mit.edu	37	7	82580373	82580373	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82580373C>T	uc003uhx.2	-	5	9820	c.9531G>A	c.(9529-9531)acG>acA	p.T3177T	PCLO_uc003uhv.2_Silent_p.T3177T|PCLO_uc010lec.3_Silent_p.T142T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3108	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T3177T(3)|p.T3108T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAGTCTATCGTCTCAGCAG	0.413000														19			9		0	0	0.000442599	0	0
PENK	5179	broad.mit.edu	37	8	57354400	57354400	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:57354400C>T	uc003xsz.2	-	1	316	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PENK_uc003xta.3_Missense_Mutation_p.D79N	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	79					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTGGTGCCATCTTGAGGAAGC	0.483000														104			31		0	0	0.000692331	0	0
APC	324	broad.mit.edu	37	5	112176564	112176564	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:112176564C>T	uc003kpz.4	+	16	5466	c.5273C>T	c.(5272-5274)tCt>tTt	p.S1758F	APC_uc011cvt.2_Missense_Mutation_p.S1740F|APC_uc003kpy.4_Missense_Mutation_p.S1758F|APC_uc010jbz.3_Missense_Mutation_p.S1475F|APC_uc010jca.3_Missense_Mutation_p.S1058F	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1758	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCGTCTTCTTCTGCACCCAAC	0.398000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				44			6		0	0	0.000157383	0	0
SLC15A1	6564	broad.mit.edu	37	13	99362121	99362121	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:99362121G>A	uc001vno.3	-	12	1022	c.945_splice	c.e12+1	p.I315_splice		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	315					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TCAAACTTACGATTTTCCCGG	0.378000														61			18		0	0	0.00229938	0	0
APOL5	80831	broad.mit.edu	37	22	36122288	36122288	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:36122288A>T	uc003aof.3	+	2	173	c.173A>T	c.(172-174)aAa>aTa	p.K58I		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	58					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CAGAGTTGGAAAATTAACAAT	0.458000														85			30		0	0	0.0024448	0	0
CYP2C9	1559	broad.mit.edu	37	10	96709029	96709029	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96709029G>A	uc001kka.4	+	4	832	c.807G>A	c.(805-807)atG>atA	p.M269I	CYP2C9_uc009xut.3_Missense_Mutation_p.M269I	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	269					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCTTCCTGATGAAAATGGAGA	0.323000														32			7		0	0	0.000274275	0	0
KCNA1	3736	broad.mit.edu	37	12	5021025	5021025	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:5021025G>A	uc001qnh.3	+	1	1586	c.481G>A	c.(481-483)Gag>Aag	p.E161K	KCNA1_uc021qts.1_Missense_Mutation_p.E161K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	161					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGAGTACCCCGAGAGCTCGGG	0.627000														60			27		0	0	0.0024448	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115659	47115659	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:47115659C>T	uc002iom.3	+	5	865	c.531C>T	c.(529-531)ccC>ccT	p.P177P	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	177					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGGGTCAGCCCCGCCAGGGCT	0.647000														17			16		0	0	0.000566183	0	0
PDE6A	5145	broad.mit.edu	37	5	149240503	149240504	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149240503_149240504GG>CA	uc003lrg.4	-	21	2657_2658	c.2537_2538CC>TG	c.(2536-2538)ccc>cTG	p.P846L	PDE6A_uc021yfs.1_Missense_Mutation_p.P765L	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	846					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCCTGGGCTGGGGTTTCCCCC	0.569000														19			4		0	0	6.4e-05	0	0
OR10G8	219869	broad.mit.edu	37	11	123901117	123901117	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123901117C>T	uc001pzp.1	+	0	788	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGCCAGGCTCCAGGAAAGCT	0.532000														38			23		0	0	0.000375601	0	0
IL7R	3575	broad.mit.edu	37	5	35876382	35876382	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:35876382G>A	uc003jjs.3	+	7	1263	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	392					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGACTGCAGGGAGAGTGGCAA	0.532000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							19			7		0	0	0.000157383	0	0
PCDH15	65217	broad.mit.edu	37	10	56138635	56138635	+	Silent	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:56138635A>T	uc010qhy.1	-	4	635	c.240T>A	c.(238-240)ctT>ctA	p.L80L	PCDH15_uc010qhq.2_Silent_p.L80L|PCDH15_uc010qhr.2_Silent_p.L75L|PCDH15_uc021pqv.1_Silent_p.L75L|PCDH15_uc021pqw.1_Silent_p.L80L|PCDH15_uc010qht.2_Silent_p.L75L|PCDH15_uc021pqx.1_Silent_p.L75L|PCDH15_uc001jjv.1_Silent_p.L53L|PCDH15_uc021pqy.1_Silent_p.L75L|PCDH15_uc021pqz.1_Silent_p.L53L|PCDH15_uc010qhv.1_Silent_p.L75L|PCDH15_uc010qhw.1_Silent_p.L75L|PCDH15_uc010qhx.1_Silent_p.L75L|PCDH15_uc010qhz.1_Silent_p.L75L|PCDH15_uc010qia.1_Silent_p.L53L|PCDH15_uc001jju.1_Silent_p.L75L|PCDH15_uc010qib.1_Silent_p.L53L|PCDH15_uc001jjw.3_Silent_p.L75L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	75	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTTAAAGAAAGTTCTATGG	0.428000										HNSCC(58;0.16)				87			15		0	0	0.000566183	0	0
MYH1	4619	broad.mit.edu	37	17	10400655	10400655	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10400655C>T	uc002gmo.3	-	31	4574	c.4480G>A	c.(4480-4482)Gaa>Aaa	p.E1494K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1494						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1494E(1)|p.E1493Q(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTAAAGATTCCTCATAAGCA	0.343000														52			32		0	0	0.000692331	0	0
ROBO1	6091	broad.mit.edu	37	3	78683143	78683143	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:78683143T>C	uc003dqe.2	-	23	3631	c.3423A>G	c.(3421-3423)tcA>tcG	p.S1141S	ROBO1_uc003dqc.2_Silent_p.S1041S|ROBO1_uc003dqd.2_Silent_p.S1096S|ROBO1_uc003dqb.2_Silent_p.S1102S|ROBO1_uc010hoh.2_Silent_p.S333S|ROBO1_uc011bgl.1_Silent_p.S713S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1141					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGGTCGTATGATTGGTTGT	0.398000														83			24		0	0	0.00178596	0	0
C3orf33	285315	broad.mit.edu	37	3	155485418	155485418	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:155485418T>C	uc003fam.1	-	3	377	c.363A>G	c.(361-363)gtA>gtG	p.V121V	C3orf33_uc003fal.1_Silent_p.V78V	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Homo sapiens chromosome 3 open reading frame 33 (C3orf33), mRNA.	78							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGCGAGTTCTACTCCAGCCA	0.408000														23			4		0	0	0.000602214	0	0
PHGDH	26227	broad.mit.edu	37	1	120277283	120277283	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:120277283C>T	uc001ehz.3	+	5	764	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PHGDH_uc009whl.3_Silent_p.S81S|PHGDH_uc009whm.3_Silent_p.S77S|PHGDH_uc001eib.3_Silent_p.S145S	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	179					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCATCATTTCCCCAGAGGTCT	0.483000														382			182		0	0	0.000781405	0	0
WFDC3	140686	broad.mit.edu	37	20	44416612	44416612	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:44416612C>T	uc002xpf.1	-	3	305	c.221G>A	c.(220-222)aGa>aAa	p.R74K	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Non-coding_Transcript	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	74	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AGGGCAATCTCTTTTCCTCCC	0.488000														34			14		0	0	0.000308642	0	0
SELM	140606	broad.mit.edu	37	22	31503396	31503396	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:31503396G>A	uc021wnx.1	-	0	156	c.96C>T	c.(94-96)aaC>aaT	p.N32N	INPP5J_uc010gwf.3_5'Flank	NM_080430	NP_536355	Q8WWX9	SELM_HUMAN	Homo sapiens selenoprotein M (SELM), mRNA.	32						Golgi apparatus|endoplasmic reticulum|nucleus|perinuclear region of cytoplasm				lung(1)|skin(1)	2						CGCTCAGACGGTTCCAGTCCG	0.706000														11			6		0	0	0.000274275	0	0
PEX11A	8800	broad.mit.edu	37	15	90226701	90226701	+	Silent	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:90226701G>T	uc002boi.3	-	2	746	c.651C>A	c.(649-651)tcC>tcA	p.S217S	PEX11A_uc010upy.2_Non-coding_Transcript	NM_003847	NP_003838	O75192	PX11A_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.	217					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCCAGGATTGGATTTATAGA	0.483000														272			9		0.000673444	0.00317651	0.000673444	1	0
SCD5	79966	broad.mit.edu	37	4	83601881	83601881	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:83601881G>A	uc003hna.2	-	2	868	c.548C>T	c.(547-549)cCt>cTt	p.P183L	SCD5_uc003hnb.4_Missense_Mutation_p.P183L	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	183					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCGGACCACAGGATCAGCAAG	0.512000														43			5		0	0	0.00116845	0	0
EP400	57634	broad.mit.edu	37	12	132445388	132445388	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:132445388C>T	uc001ujn.3	+	1	376	c.224C>T	c.(223-225)aCc>aTc	p.T75I	EP400_uc021rgq.1_Missense_Mutation_p.T75I|EP400_uc001ujm.3_Missense_Mutation_p.T75I|EP400_uc001ujj.2_Missense_Mutation_p.T75I|EP400_uc001ujk.3_Missense_Mutation_p.T75I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	75					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTGAACATCACCCTGCAGAGC	0.622000														50			34		0	0	0.00148497	0	0
RANBP2	5903	broad.mit.edu	37	2	109379696	109379696	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:109379696C>T	uc002tem.4	+	19	2827	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	901					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTTAGGGCCCAGTCTATGG	0.393000														25			11		0	0	0.00136819	0	0
OR8H1	219469	broad.mit.edu	37	11	56058353	56058353	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:56058353G>A	uc010rje.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61F(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGTGAGTAAGGAAAAAATACA	0.403000														133			69		0	0	0.000781405	0	0
ZIK1	284307	broad.mit.edu	37	19	58101610	58101610	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:58101610C>T	uc002qpg.3	+	3	528	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ZIK1_uc002qph.3_Missense_Mutation_p.S89F|ZIK1_uc002qpi.3_Missense_Mutation_p.S131F|ZIK1_uc002qpj.3_Missense_Mutation_p.S41F	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCAAAGAAATCCTTGAAGAGG	0.463000														40			24		0	0	0.00229938	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492296	87492296	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:87492296G>A	uc003kjc.3	-	11	1321	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	TMEM161B_uc011cty.2_Missense_Mutation_p.S388F|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctx.2_Missense_Mutation_p.S190F	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	399						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATACCCCAGGAATGATTACC	0.308000														26			8		0	0	0.000978159	0	0
ERCC3	2071	broad.mit.edu	37	2	128047394	128047394	+	Silent	SNP	G	A	A	rs114994654	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:128047394G>A	uc002toh.1	-	4	623	c.528C>T	c.(526-528)ttC>ttT	p.F176F	ERCC3_uc002toe.1_5'UTR|ERCC3_uc002tof.1_Silent_p.F112F|ERCC3_uc002tog.1_Silent_p.F112F|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_3'UTR	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	176					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AACTTTCAACGAAGTATCTGC	0.512000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					109			39		0	0	0.000781405	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349727	36349728	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:36349727_36349728CC>TT	uc002ocb.4	+	3	695_696	c.483_484CC>TT	c.(481-486)ttccga>ttTTga	p.R162*	KIRREL2_uc002obz.4_Nonsense_Mutation_p.R162*|KIRREL2_uc002oca.4_Nonsense_Mutation_p.R112*|KIRREL2_uc002ocd.4_Nonsense_Mutation_p.R159*	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	162	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTGTGGTTCCGAGATGGGGT	0.584000														74			23		0	0	6.4e-05	0	0
PER1	5187	broad.mit.edu	37	17	8054012	8054013	+	Silent	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:8054012_8054013GG>AA	uc002gkd.3	-	1	250_251	c.12_13CC>TT	c.(10-15)ccccta>ccTTta	p.4_5PL>PL	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Intron|PER1_uc010vus.1_Silent_p.4_5PL>PL	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	4					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCCCCTTCTAGGGGGCCACTCA	0.668000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						17			7		0	0	6.4e-05	0	0
OR10G9	219870	broad.mit.edu	37	11	123894524	123894524	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123894524G>A	uc010sad.2	+	0	805	c.805G>A	c.(805-807)Gga>Aga	p.G269R		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CGTCGTGGATGGAGTTGTGGC	0.502000														70			31		0	0	0.000692331	0	0
BUB1	699	broad.mit.edu	37	2	111399377	111399377	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:111399377G>A	uc002tgc.3	-	20	2579	c.2467C>T	c.(2467-2469)Caa>Taa	p.Q823*	BUB1_uc010yxh.2_Nonsense_Mutation_p.Q803*|BUB1_uc010fkb.3_Nonsense_Mutation_p.Q823*	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	823	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GCAGGCTTTTGGACCTGCAAA	0.403000														145			50		0	0	0.000781405	0	0
SLC13A3	64849	broad.mit.edu	37	20	45239155	45239155	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:45239155G>A	uc002xsf.2	-	2	511	c.471C>T	c.(469-471)gcC>gcT	p.A157A	SLC13A3_uc010ghn.2_Silent_p.A126A|SLC13A3_uc010zxx.2_Silent_p.A59A|SLC13A3_uc010zxw.2_Silent_p.A157A|SLC13A3_uc002xsg.2_Silent_p.A110A|SLC13A3_uc010gho.2_Silent_p.A110A|SLC13A3_uc002xsi.4_Silent_p.A110A	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	157						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTTTCAGGATGGCATTGGCAA	0.552000														142			50		0	0	0.000781405	0	0
MID2	11043	broad.mit.edu	37	X	107084487	107084487	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:107084487C>T	uc004enl.3	+	1	1165	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	MID2_uc004enk.3_Missense_Mutation_p.H198Y	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	198						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTGCCTGGACCATGAGAATGA	0.537000														18			13		0	0	0.000219431	0	0
RPL37	6167	broad.mit.edu	37	5	40832606	40832606	+	Silent	SNP	T	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:40832606T>C	uc003jme.1	-	3	394	c.294A>G	c.(292-294)taA>taG	p.*98*		NM_000997	NP_000988	P61927	RL37_HUMAN	Homo sapiens ribosomal protein L37 (RPL37), mRNA.	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				GTTGACATTCTTAAGATGAAC	0.373000														304			70		0	0	0.000781405	0	0
BCAM	4059	broad.mit.edu	37	19	45322411	45322411	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:45322411C>T	uc002ozu.3	+	10	1479	c.1435C>T	c.(1435-1437)Cca>Tca	p.P479S	BCAM_uc002ozt.1_Missense_Mutation_p.P479S	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	479	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCGCGGCCATCCAGACCCCAA	0.592000														177			98		0	0	0.000781405	0	0
OLFM3	118427	broad.mit.edu	37	1	102290780	102290780	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:102290780C>T	uc001duf.2	-	3	525	c.454G>A	c.(454-456)Gag>Aag	p.E152K	OLFM3_uc001dug.2_Missense_Mutation_p.E132K|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.E57K|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	152						extracellular region		p.E132Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGCAGGAGCTCGTCCATTTTC	0.413000														21			11		0	0	0.000219431	0	0
HK3	3101	broad.mit.edu	37	5	176316426	176316426	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:176316426G>A	uc003mfa.3	-	7	962	c.870C>T	c.(868-870)ttC>ttT	p.F290F	HK3_uc003mez.3_5'UTR	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	290	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTATGGTCGAAGGTGGTCA	0.632000														55			14		0	0	0.00074312	0	0
BNC1	646	broad.mit.edu	37	15	83932016	83932016	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:83932016C>T	uc002bjt.1	-	3	2075	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	BNC1_uc010uos.1_Missense_Mutation_p.E651K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	663					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTTGGGGTTCCATCCCAGGT	0.532000														31			6		0	0	0.00116845	0	0
HYDIN	54768	broad.mit.edu	37	16	70913365	70913365	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:70913365G>A	uc002ezr.3	-	61	10540	c.10389C>T	c.(10387-10389)ctC>ctT	p.L3463L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3464										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)				TGTCAAACACGAGGCCTCGGC	0.567000														22			10		0	0	0.00185496	0	0
FAM21B	55747	broad.mit.edu	37	10	47915945	47915945	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:47915945C>T	uc009xni.3	+	14	1352	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	FAM21B_uc001jep.4_Missense_Mutation_p.S346L	NM_018232	NP_060702	Q5SNT6	FA21B_HUMAN	Homo sapiens family with sequence similarity 21, member B (FAM21B), mRNA.	451					retrograde transport, endosome to Golgi	WASH complex|early endosome membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GGCTTATTTTCAGATGAGGAG	0.418000														79			8		0	0	0.00185496	0	0
IFITM2	10581	broad.mit.edu	37	11	309089	309089	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:309089G>T	uc001lox.4	+	1	409	c.323G>T	c.(322-324)tGg>tTg	p.W108L		NM_006435	NP_006426	Q01629	IFM2_HUMAN	Homo sapiens interferon induced transmembrane protein 2 (1-8D) (IFITM2), mRNA.	108					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGAACATCTGGGCCCTGATT	0.587000														54			6		0.00198382	0.00929871	0.00198382	1	0
RGL1	23179	broad.mit.edu	37	1	183816876	183816876	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:183816876C>T	uc001gqm.3	+	3	881	c.420C>T	c.(418-420)tcC>tcT	p.S140S	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Silent_p.S103S|RGL1_uc010poh.2_Silent_p.S103S|RGL1_uc001gqo.3_Silent_p.S105S|RGL1_uc010poi.2_Silent_p.S105S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	105	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCTTTGCCTCCACTAAAGAAG	0.453000														54			28		0	0	0.00106085	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20501698	20501698	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:20501698C>T	uc002wrz.3	-	30	4090	c.3947G>A	c.(3946-3948)aGt>aAt	p.S1316N	RALGAPA2_uc002wry.3_Missense_Mutation_p.S931N|RALGAPA2_uc010zsg.2_Missense_Mutation_p.S764N|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S88N	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1316					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TATGTAGTGACTCTGTTGGGT	0.532000														83			19		0	0	0.00047179	0	0
LRP1B	53353	broad.mit.edu	37	2	141202219	141202219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:141202219G>A	uc002tvj.1	-	63	11059	c.10087C>T	c.(10087-10089)Cag>Tag	p.Q3363*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3363	LDL-receptor class A 22.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCCACACTGAAATCGGCCT	0.418000										TSP Lung(27;0.18)				40			20		0	0	0.00229938	0	0
CCDC18	343099	broad.mit.edu	37	1	93720073	93720073	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:93720073C>T	uc021opx.1	+	23	3405	c.3244C>T	c.(3244-3246)Cga>Tga	p.R1082*	CCDC18_uc001dpr.1_5'UTR	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	1081										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGAACAGCTTCGAGAAAAAGA	0.284000														55			45		0	0	0.000509022	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136225	92136225	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:92136225G>A	uc001xzs.1	-	13	1360	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	407					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAAGAGAATGATGAAGGAAA	0.413000														32			17		0	0	0.000422831	0	0
TCERG1	10915	broad.mit.edu	37	5	145843255	145843255	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:145843255C>T	uc003lob.3	+	4	1074	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L	TCERG1_uc003loc.3_Missense_Mutation_p.P345L|TCERG1_uc011dbt.2_Missense_Mutation_p.P345L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	345	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGTTCCTCATTCAGTA	0.532000														101			16		0	0	0.00152264	0	0
C6	729	broad.mit.edu	37	5	41201710	41201710	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:41201710G>A	uc003jmk.2	-	2	460	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	C6_uc003jml.1_Silent_p.L84L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	84	TSP type-1 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAATCTCCCAGGAGGCAGTTG	0.443000														17			5		0	0	0.000602214	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572290	90572291	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:90572290_90572291CC>TT	uc003pnr.3	+	6	1058_1059	c.862_863CC>TT	c.(862-864)cct>TTt	p.P288F	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.P288F|CASP8AP2_uc011dzz.2_Missense_Mutation_p.P288F	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	288					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACAAGGACATCCTGAGAAATAT	0.391000														128			74		0	0	6.4e-05	0	0
MAST2	23139	broad.mit.edu	37	1	46488611	46488611	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:46488611C>T	uc001cov.3	+	12	1736	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	MAST2_uc001cow.3_Missense_Mutation_p.P485S|MAST2_uc001coy.1_Missense_Mutation_p.P159S|MAST2_uc001coz.1_Missense_Mutation_p.P370S|MAST2_uc009vya.3_Missense_Mutation_p.P407S|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	485					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTGTGACAGTCCTGACACTCC	0.473000														75			39		0	0	0.000781405	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6426513	6426513	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:6426513G>A	uc001qnr.3	+	7	949	c.801G>A	c.(799-801)gtG>gtA	p.V267V	PLEKHG6_uc001qns.3_Silent_p.V267V|PLEKHG6_uc010sew.2_Silent_p.V267V|PLEKHG6_uc010sex.2_Silent_p.V235V	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	267	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R266Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCCTCCGAGTGAAGCAGACCA	0.597000														37			12		0	0	0.000308642	0	0
ADCY10	55811	broad.mit.edu	37	1	167780031	167780031	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167780031C>T	uc001ger.3	-	31	4900	c.4602G>A	c.(4600-4602)ctG>ctA	p.L1534L	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.L1381L|ADCY10_uc009wvk.3_Silent_p.L1442L	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1534					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGCTGTGTTCAGGAAGAGGC	0.488000														41			21		0	0	0.000878237	0	0
SLC34A2	10568	broad.mit.edu	37	4	25671398	25671398	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:25671398G>A	uc003grr.3	+	6	846	c.765G>A	c.(763-765)aaG>aaA	p.K255K	SLC34A2_uc003grs.3_Silent_p.K254K|SLC34A2_uc010iev.3_Silent_p.K254K	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	255					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)				TCCACTTCAAGAATGGAGAAG	0.493000			T	ROS1	NSCLC									142			30		0	0	0.00178596	0	0
KCNG4	93107	broad.mit.edu	37	16	84270480	84270480	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:84270480C>T	uc010voc.2	-	1	733	c.612G>A	c.(610-612)atG>atA	p.M204I	KCNG4_uc002fhu.1_Missense_Mutation_p.M204I	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	204						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCAGCCGGTTCATGCACAGGC	0.682000														24			16		0	0	0.00074312	0	0
CADPS	8618	broad.mit.edu	37	3	62423848	62423848	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:62423848G>A	uc003dll.2	-	27	4068	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CADPS_uc003dlj.1_Silent_p.F191F|CADPS_uc003dlk.1_Silent_p.F684F|CADPS_uc003dlm.2_Silent_p.F1197F|CADPS_uc003dln.2_Silent_p.F1157F|CADPS_uc021wzv.1_Silent_p.F1227F	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1236	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATGGCGGACGAAAGTCACGT	0.448000														62			17		0	0	0.000375601	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279858	39279858	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:39279858G>A	uc002hwa.3	-	0	562	c.517C>T	c.(517-519)Cga>Tga	p.R173*		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	173						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGAGACTCGGCCACAGACT	0.637000														11			7		0	0	0.000157383	0	0
ANPEP	290	broad.mit.edu	37	15	90336292	90336292	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:90336292C>T	uc002bop.4	-	15	2515	c.2223G>A	c.(2221-2223)agG>agA	p.R741R		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	741	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|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)	CTGGGATCTCCCTCCAGTTGT	0.488000														164			19		0	0	0.00047179	0	0
PGBD5	79605	broad.mit.edu	37	1	230468602	230468602	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:230468602G>A	uc010pwb.2	-	4	1078	c.1054C>T	c.(1054-1056)Ccg>Tcg	p.P352S		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	352						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGCTGCACCGGGGAGTAGGCG	0.632000														117			27		0	0	0.000953801	0	0
CA7	766	broad.mit.edu	37	16	66886680	66886680	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:66886680G>A	uc002eqi.3	+	5	691	c.582G>A	c.(580-582)tgG>tgA	p.W194*	AF086125_uc002eqh.3_Intron|CA7_uc002eqj.3_Nonsense_Mutation_p.W138*	NM_005182	NP_001014435	P43166	CAH7_HUMAN	Homo sapiens carbonic anhydrase VII (CA7), transcript variant 1, mRNA.	194					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGCACTACTGGACCTACCCGG	0.597000														26			15		0	0	0.000566183	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795991	15795991	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:15795991C>T	uc002nbl.3	+	8	1218	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGACCGCGATCCTAAAGAGAT	0.562000														80			19		0	0	0.00229938	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348819	122348819	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:122348819C>T	uc001lev.1	+	6	973	c.621C>T	c.(619-621)tcC>tcT	p.S207S	PPAPDC1A_uc009xzl.1_Silent_p.S144S|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Missense_Mutation_p.P57L|PPAPDC1A_uc001ley.1_Silent_p.S86S	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	207					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCTAGATTCCTTTGTGGGTG	0.443000														150			31		0	0	0.000692331	0	0
TTC21B	79809	broad.mit.edu	37	2	166740445	166740445	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:166740445C>G	uc002udk.3	-	25	3676	c.3543G>C	c.(3541-3543)aaG>aaC	p.K1181N	TTC21B_uc002udj.2_Non-coding_Transcript	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	1181						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCGCAATACGCTTCAGCTGGT	0.403000														79			26		0	0	0.00127121	0	0
TMEM67	91147	broad.mit.edu	37	8	94809567	94809567	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:94809567G>A	uc011lgk.2	+	19	2040	c.1969G>A	c.(1969-1971)Ggt>Agt	p.G657S	TMEM67_uc010maw.2_Missense_Mutation_p.G363S|TMEM67_uc003yga.4_Missense_Mutation_p.G576S|TMEM67_uc011lgl.2_Missense_Mutation_p.G56S	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	657					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGGTGAGGGTGGTGTACGAAG	0.348000														71			12		0	0	0.000308642	0	0
WNK4	65266	broad.mit.edu	37	17	40939873	40939873	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:40939873G>A	uc002ibj.3	+	7	1887	c.1819G>A	c.(1819-1821)Ggg>Agg	p.G607R	WNK4_uc010wgx.2_Missense_Mutation_p.G271R|WNK4_uc002ibk.1_Missense_Mutation_p.G379R|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	607					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCCCCCTGGGGGGGTGCCATC	0.647000														24			20		0	0	0.00188189	0	0
HECW2	57520	broad.mit.edu	37	2	197085603	197085603	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:197085603C>T	uc002utm.1	-	24	4392	c.4209G>A	c.(4207-4209)aaG>aaA	p.K1403K	HECW2_uc002utl.1_Silent_p.K1047K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1403	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGATGTACTCCTTCTTGTTCT	0.423000														92			34		0	0	0.000814825	0	0
NPAS3	64067	broad.mit.edu	37	14	34145419	34145419	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:34145419G>A	uc001wru.3	+	5	625	c.561G>A	c.(559-561)gtG>gtA	p.V187V	NPAS3_uc001wrs.3_Silent_p.V174V|NPAS3_uc001wrv.3_Silent_p.V157V|NPAS3_uc001wrt.3_Silent_p.V155V|NPAS3_uc001wrw.3_Silent_p.V85V	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	187	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCCTCTAGGTGGAGCTGACAG	0.512000														50			10		0	0	0.000442599	0	0
SMO	6608	broad.mit.edu	37	7	128845101	128845101	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:128845101C>T	uc003vor.3	+	2	875	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	SMO_uc003vos.3_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	199					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R199W(4)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCCTTGGTTCGGACAGACAA	0.582000			Mis		skin basal cell									34			16		0	0	0.000958276	0	0
ROR1	4919	broad.mit.edu	37	1	64605890	64605890	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:64605890G>A	uc001dbj.2	+	5	1108	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	ROR1_uc001dbi.4_Missense_Mutation_p.E237K|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	237	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GTACTGCGATGAAACTTCATC	0.468000														73			20		0	0	0.00188189	0	0
PXDNL	137902	broad.mit.edu	37	8	52384783	52384783	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:52384783C>T	uc003xqu.4	-	7	877	c.776G>A	c.(775-777)gGa>gAa	p.G259E		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	259	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTTGGGGTTTCCTTCCGCCCG	0.443000														85			15		0	0	0.000566183	0	0
ABP1	26	broad.mit.edu	37	7	150558157	150558157	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150558157C>T	uc003why.1	+	5	6334	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S	ABP1_uc003whz.1_Missense_Mutation_p.P706S|ABP1_uc003wia.1_Missense_Mutation_p.P725S	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	706					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCCAGAGGACCCCTCCCTGGC	0.617000														37			7		0	0	0.000442599	0	0
PAMR1	25891	broad.mit.edu	37	11	35457602	35457602	+	Silent	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:35457602A>G	uc001mwf.3	-	9	1276	c.1233T>C	c.(1231-1233)ctT>ctC	p.L411L	PAMR1_uc001mwg.3_Silent_p.L394L|PAMR1_uc010rew.2_Silent_p.L283L|PAMR1_uc010rex.2_Silent_p.L354L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	394	Sushi 2.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTCCAAAGGGAAGGGCTGGCT	0.567000														119			19		0	0	0.00229938	0	0
DAGLA	747	broad.mit.edu	37	11	61490429	61490429	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61490429C>T	uc001nsa.3	+	3	522	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	136					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.L136L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAATGTCACCCTCGGTACGTC	0.592000														25			28		0	0	0.00127121	0	0
KIAA1109	84162	broad.mit.edu	37	4	123269732	123269732	+	Silent	SNP	A	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:123269732A>G	uc003ieh.3	+	74	13185	c.13140A>G	c.(13138-13140)tcA>tcG	p.S4380S	KIAA1109_uc003iem.3_Silent_p.S736S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4380					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATTCACTTTCAAAAACATCAA	0.318000														16			6		0	0	0.000157383	0	0
SNCAIP	9627	broad.mit.edu	37	5	121767676	121767676	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:121767676G>A	uc003ksw.1	+	5	1401	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.E399K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E33K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E446K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E33K|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Missense_Mutation_p.E33K|SNCAIP_uc003kta.1_Missense_Mutation_p.E31K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E93K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E339K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	399					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGTCAGTTGGAGTGCGTACG	0.403000														12			5		0	0	0.00116845	0	0
TAF13	6884	broad.mit.edu	37	1	109607223	109607224	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:109607223_109607224CC>AA	uc001dwm.1	-	3	351_352	c.296_297GG>TT	c.(295-297)agg>aTT	p.R99I		NM_005645	NP_005636	Q15543	TAF13_HUMAN	Homo sapiens TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa (TAF13), mRNA.	99					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGTCTTTAACCCTGGCAAACTT	0.371000														810			13		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9086131	9086131	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9086131G>A	uc002mkp.3	-	0	5888	c.5684C>T	c.(5683-5685)tCc>tTc	p.S1895F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1895	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAGTCATGGAAGTGTGAGT	0.493000														28			11		0	0	0.000978159	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061706	103061706	+	Silent	SNP	C	T	T	rs141693630		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:103061706C>T	uc002tbx.3	+	8	1462	c.978C>T	c.(976-978)gtC>gtT	p.V326V	IL18RAP_uc010fiz.3_Silent_p.V184V	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	326	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGAAAAAGTCACTCAGCGTG	0.393000														66			30		0	0	0.00209593	0	0
PNMA1	9240	broad.mit.edu	37	14	74179852	74179852	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:74179852A>T	uc001xor.1	-	0	1277	c.491T>A	c.(490-492)tTc>tAc	p.F164Y		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	Homo sapiens paraneoplastic antigen MA1 (PNMA1), mRNA.	164					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		cctccccgagaaaagtgtcag	0.512000														76			12		0	0	0.00185496	0	0
AFF4	27125	broad.mit.edu	37	5	132232717	132232718	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:132232717_132232718GG>AA	uc003kyd.3	-	10	2012_2013	c.1604_1605CC>TT	c.(1603-1605)acc>aTT	p.T535I	AFF4_uc011cxk.2_Missense_Mutation_p.T213I|AFF4_uc003kye.1_Missense_Mutation_p.T535I	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	535					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTTTGGATGGTTTTGGAGTC	0.490000														85			37		0	0	6.4e-05	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883993	228883993	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228883993G>A	uc002vpq.2	-	6	1624	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	SPHKAP_uc002vpp.2_Missense_Mutation_p.S526L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S526L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	526						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGAAAGTTCGAGACCACTTG	0.502000														44			12		0	0	0.00136819	0	0
KIAA0391	9692	broad.mit.edu	37	14	35736016	35736016	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:35736016C>T	uc001wsy.1	+	5	1719	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	KIAA0391_uc010tps.1_Silent_p.S358S|KIAA0391_uc001wsz.1_Silent_p.S437S|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Silent_p.S81S	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	453				S -> F (in Ref. 3; BAG64540).	tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GACGGAGTTCCCAGTGGAGTC	0.473000														99			21		0	0	0.000375601	0	0
ODZ4	26011	broad.mit.edu	37	11	78381204	78381204	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:78381204G>A	uc001ozl.4	-	31	6649	c.6186C>T	c.(6184-6186)ccC>ccT	p.P2062P	ODZ4_uc001ozk.4_Silent_p.P287P	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2062					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGTCAATCAGGGGCCCAATCT	0.542000														21			6		0	0	0.000274275	0	0
DSP	1832	broad.mit.edu	37	6	7580528	7580528	+	Missense_Mutation	SNP	G	A	A	rs141805096		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:7580528G>A	uc003mxp.1	+	22	4384	c.4105G>A	c.(4105-4107)Gag>Aag	p.E1369K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1369	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTTTGAGACCGAGATCAACAT	0.463000														44			34		0	0	0.000692331	0	0
NLRP5	126206	broad.mit.edu	37	19	56539348	56539348	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56539348C>T	uc002qmj.3	+	6	1749	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	NLRP5_uc002qmi.3_Silent_p.F564F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	583	NACHT.					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)		ACACCTTCTTCCACCTCAGTC	0.532000														24			11		0	0	0.00136819	0	0
SERPINB3	6317	broad.mit.edu	37	18	61309039	61309039	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61309039C>T	uc002ljf.3	-	3	392	c.306G>A	c.(304-306)aaG>aaA	p.K102K	SERPINB3_uc002lje.3_Silent_p.K102K|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	102					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						TGTTGGCGATCTTCAGCTCAT	0.403000														29			8		0	0	0.000442599	0	0
SLIT3	6586	broad.mit.edu	37	5	168098445	168098445	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:168098445C>T	uc010jjg.3	-	33	4326	c.3906G>A	c.(3904-3906)acG>acA	p.T1302T	SLIT3_uc003mab.3_Silent_p.T1295T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1295	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGCCGGTCCGTGCCCTGGC	0.667000														18			4		0	0	0.000602214	0	0
NRXN3	9369	broad.mit.edu	37	14	78709967	78709967	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:78709967G>A	uc001xum.1	+	1		c.1324G>A						Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.						angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGTTAATTCTGGATCTCAAGT	0.567000														43			7		0	0	0.000274275	0	0
DNAH1	25981	broad.mit.edu	37	3	52397079	52397079	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52397079C>T	uc011bef.2	+	31	5424	c.5163C>T	c.(5161-5163)tcC>tcT	p.S1721S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1721	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCTCTATTCCTTTGGCTTTA	0.532000														142			65		0	0	0.000781405	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560950	44560950	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44560950G>A	uc002lcr.1	-	0	1039	c.686C>T	c.(685-687)tCg>tTg	p.S229L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	229					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGCGAGACGATTTGTGCCC	0.617000														20			10		0	0	0.000673444	0	0
ISM1	140862	broad.mit.edu	37	20	13251208	13251208	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:13251208G>A	uc010gce.1	+	1	202	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	66						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCTCTCCAAAGAAGCACCAAG	0.493000														27			8		0	0	0.000673444	0	0
LRRC55	219527	broad.mit.edu	37	11	56949817	56949817	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:56949817C>T	uc001njl.2	+	0	597	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	120						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCCCCGGGGCCTCTTCCTCC	0.577000														11			8		0	0	0.000157383	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756286	94756286	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:94756286C>T	uc001yct.3	-	1	1111	c.645G>A	c.(643-645)ggG>ggA	p.G215G	SERPINA10_uc001ycu.4_Silent_p.G215G	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	215					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.G215G(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGGAATTTTCCCCCGAGTCT	0.388000														59			10		0	0	0.000442599	0	0
SPEG	10290	broad.mit.edu	37	2	220357315	220357315	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220357315G>A	uc010fwg.3	+	41	9612	c.9612_splice	c.e41-1	p.W3204_splice		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3204	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCCTGGCAGGAGCCGGCCC	0.667000														136			46		0	0	0.000781405	0	0
LHX9	56956	broad.mit.edu	37	1	197889116	197889116	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:197889116C>T	uc001guk.1	+	1	626	c.189C>T	c.(187-189)ctC>ctT	p.L63L	LHX9_uc001gui.1_Silent_p.L54L	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	63					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGCCCCCGCTCAGCCCGGAGA	0.662000														95			51		0	0	0.000781405	0	0
CPXM1	56265	broad.mit.edu	37	20	2775066	2775066	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:2775066C>T	uc002wgu.3	-	13	2049	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	CPXM1_uc010gas.3_Missense_Mutation_p.D585N	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	659					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCCAATAATCCCCGCCCCAC	0.597000														39			16		0	0	0.000958276	0	0
ACSL6	23305	broad.mit.edu	37	5	131303700	131303701	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:131303700_131303701GG>AA	uc003kvx.2	-	15	1637_1638	c.1528_1529CC>TT	c.(1528-1530)ccc>TTc	p.P510F	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.P475F|ACSL6_uc003kvy.2_Missense_Mutation_p.P510F|ACSL6_uc003kvz.2_Missense_Mutation_p.P410F|ACSL6_uc021ydh.1_Missense_Mutation_p.P410F|ACSL6_uc010jdo.2_Missense_Mutation_p.P485F|ACSL6_uc003kwa.2_Missense_Mutation_p.P496F|ACSL6_uc003kvw.2_Missense_Mutation_p.P131F|ACSL6_uc010jdn.2_Missense_Mutation_p.P500F	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	485					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGATTGCAGGGAAGTGGCGCC	0.490000														59			13		0	0	6.4e-05	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931004	157931004	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:157931004G>A	uc003wno.3	-	6	1235	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	PTPRN2_uc003wnp.3_Missense_Mutation_p.R355C|PTPRN2_uc003wnq.3_Missense_Mutation_p.R372C|PTPRN2_uc003wnr.3_Missense_Mutation_p.R334C|PTPRN2_uc011kwa.2_Missense_Mutation_p.R395C	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	372						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R372C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGTCTCCACGGAGGGTGGCC	0.677000														40			8		0	0	0.000274275	0	0
OGDHL	55753	broad.mit.edu	37	10	50959894	50959894	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:50959894G>A	uc009xog.3	-	4	843	c.809C>T	c.(808-810)gCc>gTc	p.A270V	OGDHL_uc001jie.3_Missense_Mutation_p.A243V|OGDHL_uc010qgt.2_Missense_Mutation_p.A186V|OGDHL_uc010qgu.2_Missense_Mutation_p.A34V|OGDHL_uc009xoh.2_Missense_Mutation_p.A34V	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	243					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CACTAGCCGGGCCAGCAGGGT	0.607000														62			21		0	0	0.000586117	0	0
PYGO2	90780	broad.mit.edu	37	1	154932030	154932030	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:154932030G>A	uc001fft.3	-	2	652	c.446C>T	c.(445-447)cCc>cTc	p.P149L		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	149	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGACCCTGGGGGGGCATGTT	0.627000														82			24		0	0	0.000720815	0	0
NDN	4692	broad.mit.edu	37	15	23932257	23932257	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:23932257C>T	uc001ywk.3	-	0	194	c.108G>A	c.(106-108)gcG>gcA	p.A36A		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	36					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGCCAGGGTCGCGGACGGAG	0.701000									Prader-Willi syndrome					11			4		0	0	0.00024832	0	0
F7	2155	broad.mit.edu	37	13	113772738	113772738	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:113772738C>T	uc001vsv.3	+	8	868	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F	F7_uc001vsw.3_Missense_Mutation_p.L251F|F7_uc010tjt.2_Missense_Mutation_p.L204F	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	273	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGAGCACGACCTCAGCGAGCA	0.662000														58			16		0	0	0.000958276	0	0
KIF13B	23303	broad.mit.edu	37	8	28950352	28950352	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:28950352G>A	uc003xhh.4	-	36	4427	c.4368C>T	c.(4366-4368)tcC>tcT	p.S1456S	KIF13B_uc011laz.2_5'UTR	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1456					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCGGCACGAAGGATTTGACAG	0.478000														21			4		0	0	0.000602214	0	0
LRRK1	79705	broad.mit.edu	37	15	101567520	101567520	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:101567520C>T	uc002bwr.3	+	17	2779	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	820	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCTGATTTTCCACGTCACGT	0.572000														63			10		0	0	0.000673444	0	0
PRSS35	167681	broad.mit.edu	37	6	84234041	84234041	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:84234041G>A	uc003pjz.3	+	1	1121	c.881G>A	c.(880-882)gGa>gAa	p.G294E	PRSS35_uc010kbm.3_Missense_Mutation_p.G294E|PRSS35_uc021zce.1_Missense_Mutation_p.G294E	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	294	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATGGAACTTGGAATCAGCCCA	0.488000														32			20		0	0	0.00152264	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003965	34003966	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:34003965_34003966CC>TT	uc002yqh.2	-	31	4178_4179	c.4178_4179GG>AA	c.(4177-4179)agg>aAA	p.R1393K	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.R1307K|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1354	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACTGAATCAACCTCTTTGGGTC	0.446000														56			10		0	0	6.4e-05	0	0
TMEM132B	114795	broad.mit.edu	37	12	126068489	126068489	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:126068489C>T	uc001uhe.1	+	4	1379	c.1371C>T	c.(1369-1371)gtC>gtT	p.V457V	TMEM132B_uc021rgl.1_Silent_p.V347V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	457						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTCTGTGGTCGATGTGTCTG	0.483000														84			41		0	0	0.000509022	0	0
KCNB1	3745	broad.mit.edu	37	20	47990818	47990818	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47990818C>T	uc002xur.1	-	1	1445	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	KCNB1_uc002xus.1_Missense_Mutation_p.E427K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	427					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTGCTTTCTCCTGTCTCTTC	0.502000														93			33		0	0	0.000692331	0	0
COL7A1	1294	broad.mit.edu	37	3	48619044	48619044	+	Missense_Mutation	SNP	G	A	A	rs146418495		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:48619044G>A	uc003ctz.2	-	48	4745	c.4744C>T	c.(4744-4746)Cct>Tct	p.P1582S	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1582	Triple-helical region.				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)		GGGTCTCCAGGAAGAACCAAG	0.567000														77			21		0	0	0.00047179	0	0
GOT2	2806	broad.mit.edu	37	16	58757769	58757769	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:58757769G>A	uc002eof.1	-	1	241	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	GOT2_uc010vim.1_Missense_Mutation_p.P43S	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	43					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCAGAATGGGATCTGGAGGT	0.448000														102			20		0	0	0.00152264	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777658	56777658	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:56777658C>T	uc003jrm.3	-	0	979	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	293						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GCATAGAGATCCTTGCGAATA	0.493000														48			6		0	0	0.00198382	0	0
CEP250	11190	broad.mit.edu	37	20	34092342	34092342	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:34092342G>A	uc021wco.1	+	29	6792	c.6145G>A	c.(6145-6147)Gaa>Aaa	p.E2049K	CEP250_uc010zve.2_Missense_Mutation_p.E1417K	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2049	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCAGAGGGATGAAGAGCTGAG	0.562000														40			11		0	0	0.00136819	0	0
C7orf58	79974	broad.mit.edu	37	7	120737752	120737752	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:120737752G>A	uc003vjq.4	+	6	1064	c.617_splice	c.e6-1	p.E206_splice	C7orf58_uc003vjr.1_Splice_Site_p.E206_splice|C7orf58_uc003vjs.4_Splice_Site_p.E206_splice|C7orf58_uc003vjt.4_Splice_Site|C7orf58_uc010lkk.2_Splice_Site	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	206						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AATCTTTTCAGAACTGCAACT	0.408000														59			10		0	0	0.00136819	0	0
EPHB2	2048	broad.mit.edu	37	1	23234541	23234541	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:23234541C>T	uc009vqj.1	+	11	2377	c.2232C>T	c.(2230-2232)caC>caT	p.H744H	EPHB2_uc001bge.3_Silent_p.H745H|EPHB2_uc001bgf.3_Silent_p.H744H|EPHB2_uc010odu.2_Silent_p.H686H	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	744	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTATGTTCACCGTGACCTGG	0.557000														109			31		0	0	0.0024448	0	0
abParts	0	broad.mit.edu	37	14	106494539	106494539	+	RNA	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106494539G>A	uc021ser.1	-	2336		c.41190C>T								Parts of antibodies, mostly variable regions.																		CACATGAAGGGATGGTCAGCA	0.537000														25			5		0	0	0.00116845	0	0
PHF7	51533	broad.mit.edu	37	3	52456247	52456247	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52456247C>T	uc003ddy.3	+	8	1496	c.690C>T	c.(688-690)gcC>gcT	p.A230A	PHF7_uc003ddz.3_Intron	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	230						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GAGATGCTGCCTGGGAACTCG	0.493000														96			30		0	0	0.0024448	0	0
MDC1	9656	broad.mit.edu	37	6	30680528	30680529	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:30680528_30680529GG>AA	uc003nrg.4	-	4	1630_1631	c.1190_1191CC>TT	c.(1189-1191)tcc>tTT	p.S397F	MDC1_uc003nrf.4_Missense_Mutation_p.S51F|MDC1_uc011dmp.1_Missense_Mutation_p.S269F|MDC1_uc003nrh.1_Missense_Mutation_p.S269F|MDC1_uc003nri.2_Missense_Mutation_p.S397F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	397	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGATAACCATGGAAGCTTGGCT	0.540000								Other conserved DNA damage response genes						45			27		0	0	6.4e-05	0	0
LMNB2	84823	broad.mit.edu	37	19	2433975	2433975	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:2433975G>A	uc002lvy.3	-	7	1358	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	424	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCCCAAGGGCTCCTCCAC	0.726000														149			33		0	0	0.000491102	0	0
MYH13	8735	broad.mit.edu	37	17	10258228	10258228	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10258228C>T	uc002gmk.1	-	9	975	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	295	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTTCTGGCTTCTTGTTTGACA	0.343000														34			16		0	0	0.000566183	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095638	103095638	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:103095638C>T	uc002tbz.4	+	1	1054	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	199					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTGCTGTTCGGCAGCCTGA	0.617000														21			7		0	0	0.00198382	0	0
PAM	5066	broad.mit.edu	37	5	102342696	102342696	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:102342696C>T	uc003knt.3	+	17	2368	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	PAM_uc003knw.3_Silent_p.F665F|PAM_uc003kns.3_Silent_p.F558F|PAM_uc003knu.3_Silent_p.F665F|PAM_uc011cuz.2_Silent_p.F568F|PAM_uc003knv.3_Silent_p.F665F|PAM_uc003knz.3_5'Flank	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	665	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTGGAAAGTTCATCACACAGT	0.443000														21			6		0	0	0.00116845	0	0
UPF1	5976	broad.mit.edu	37	19	18976152	18976152	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18976152C>T	uc002nkg.3	+	20	3220	c.2945C>T	c.(2944-2946)gCc>gTc	p.A982V	UPF1_uc002nkf.3_Missense_Mutation_p.A971V|UPF1_uc002nkh.3_Missense_Mutation_p.A226V	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	982					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ATGATCAGTGCCGGCCCTAGC	0.587000														37			13		0	0	0.00136819	0	0
TNXB	7148	broad.mit.edu	37	6	32041686	32041686	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32041686C>T	uc003nzl.2	-	11	4621	c.4419G>A	c.(4417-4419)ctG>ctA	p.L1473L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1560	Fibronectin type-III 7.				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						GGCGTGGCTCCAGCGGGGACT	0.562000														227			138		0	0	0.000781405	0	0
ATXN7	6314	broad.mit.edu	37	3	63967960	63967960	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:63967960C>T	uc003dlv.3	+	6	1404	c.851C>T	c.(850-852)tCc>tTc	p.S284F	ATXN7_uc003dlw.4_Missense_Mutation_p.S284F|ATXN7_uc021wzy.1_Missense_Mutation_p.S284F|ATXN7_uc011bfn.2_Missense_Mutation_p.S139F	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	284					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACTGTGAGTTCCTTAGTCAAG	0.517000														40			13		0	0	0.00185496	0	0
PRSS37	136242	broad.mit.edu	37	7	141537045	141537045	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:141537045C>T	uc003vws.2	-	3	806	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	PRSS37_uc011krl.2_Missense_Mutation_p.R144Q|PRSS37_uc011krk.2_Missense_Mutation_p.R132Q|PRSS37_uc003vwt.2_Missense_Mutation_p.R132Q	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	145	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTCAGGGTGTCGGCCTGAGGG	0.468000														55			29		0	0	0.000814825	0	0
A1CF	29974	broad.mit.edu	37	10	52603746	52603746	+	Splice_Site	SNP	A	C	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:52603746A>C	uc001jjj.3	-	4	422	c.234_splice	c.e4+1	p.K78_splice	A1CF_uc010qho.2_Splice_Site_p.K86_splice|A1CF_uc010qhn.2_Splice_Site_p.K86_splice|A1CF_uc009xov.3_Splice_Site_p.K78_splice|A1CF_uc001jji.3_Splice_Site_p.K78_splice|A1CF_uc001jjh.3_Splice_Site_p.K86_splice|A1CF_uc001jjk.1_Splice_Site_p.K78_splice	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	78	RRM 1.				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						ATTTGGACTCACTTTTTCACA	0.393000														121			21		0	0	0.000375601	0	0
POPDC2	64091	broad.mit.edu	37	3	119378958	119378958	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:119378958G>A	uc003ecx.1	-	0	447	c.313C>T	c.(313-315)Cct>Tct	p.P105S	POPDC2_uc010hqw.1_Missense_Mutation_p.P105S|POPDC2_uc003ecy.1_Intron	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	105						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AACTCCTCAGGGAGGGTGTCC	0.582000														70			21		0	0	0.00188189	0	0
UTP6	55813	broad.mit.edu	37	17	30211497	30211497	+	Missense_Mutation	SNP	G	A	A	rs146623373		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:30211497G>A	uc002hgr.3	-	9	814	c.731C>T	c.(730-732)tCg>tTg	p.S244L	UTP6_uc002hgq.3_Missense_Mutation_p.S60L|UTP6_uc010wbw.1_Missense_Mutation_p.S244L	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	244					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTGTGCAATCGAAAGCAGTGA	0.333000														29			10		0	0	0.00185496	0	0
MEP1B	4225	broad.mit.edu	37	18	29797058	29797058	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:29797058C>T	uc002kxj.4	+	12	1911	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	622	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGCACTGTTCGAGATGGCAA	0.398000														62			19		0	0	0.00229938	0	0
NDFIP1	80762	broad.mit.edu	37	5	141517330	141517330	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:141517330C>T	uc003lmi.4	+	4	618	c.402C>T	c.(400-402)ttC>ttT	p.F134F	NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	134					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endosome membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGTTTTTCCTGTCTTTTT	0.453000														156			32		0	0	0.000491102	0	0
BCAS3	54828	broad.mit.edu	37	17	58824639	58824639	+	Splice_Site	SNP	T	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:58824639T>A	uc002iyv.4	+	6	512	c.403_splice	c.e6+1	p.G135_splice	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.4_Splice_Site_p.G135_splice|BCAS3_uc002iyw.4_Splice_Site_p.G131_splice	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	135						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTCCACAGTTTGGTGAGTGTA	0.423000														111			77		0	0	0.000781405	0	0
PTH2R	5746	broad.mit.edu	37	2	209302306	209302307	+	Nonsense_Mutation	DNP	AG	TA	TA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:209302306_209302307AG>TA	uc010zjb.2	+	2	542_543	c.256_257AG>TA	c.(256-258)aga>TAa	p.R86*	PTH2R_uc002vdb.3_Nonsense_Mutation_p.R75*	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	75						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTTGGCCCAGAGGAACAGTG	0.327000														52			13		0	0	6.4e-05	0	0
PHKA1	5255	broad.mit.edu	37	X	71925095	71925095	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:71925095C>T	uc004eax.4	-	3	539	c.238_splice	c.e3-1	p.S80_splice	PHKA1_uc004eay.4_Splice_Site_p.S80_splice|PHKA1_uc011mqi.2_Splice_Site_p.S80_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	80					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCACTACACTCTGCAGAAATA	0.383000														37			18		0	0	0.00229938	0	0
PLIN5	440503	broad.mit.edu	37	19	4523691	4523691	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4523691G>A	uc002mas.3	-	7	1294	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	414						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCTCTGCTGGGCCGGCCAGTC	0.701000														124			45		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	14	106573449	106573449	+	RNA	SNP	T	G	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106573449T>G	uc021ser.1	-	1890		c.35246A>C								Parts of antibodies, mostly variable regions.																		TGAAGGTGAATCCAGAGGCTG	0.552000														91			12		0	0	0.00136819	0	0
APPL1	26060	broad.mit.edu	37	3	57294004	57294004	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:57294004C>T	uc003dio.3	+	16	1762	c.1615C>T	c.(1615-1617)Cgt>Tgt	p.R539C	APPL1_uc010hnb.3_Missense_Mutation_p.R539C|APPL1_uc011bey.1_Missense_Mutation_p.R522C	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	539	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R539H(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TAACATCTTTCGTATGACAGA	0.378000														51			17		0	0	0.00074312	0	0
GCN1L1	10985	broad.mit.edu	37	12	120594775	120594775	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:120594775G>A	uc001txo.3	-	26	3122	c.3109C>T	c.(3109-3111)Cgc>Tgc	p.R1037C	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1037					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGCCACGCGAGGCAGCAAC	0.602000														36			21		0	0	0.000375601	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409391	33409391	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:33409391C>T	uc011dri.2	+	12	2344	c.2149C>T	c.(2149-2151)Ctc>Ttc	p.L717F	SYNGAP1_uc010juy.3_Missense_Mutation_p.L702F|SYNGAP1_uc010juz.3_Missense_Mutation_p.L429F	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	717					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ACTGCCCCGGCTCCTCAACGA	0.652000														25			9		0	0	0.000673444	0	0
ITGA1	3672	broad.mit.edu	37	5	52235458	52235458	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:52235458C>T	uc003jou.3	+	24	3531	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Silent_p.F570F	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	1039					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGGATCCTTTCAGTATCAACT	0.353000														34			5		0	0	0.00198382	0	0
THSD7B	80731	broad.mit.edu	37	2	138169266	138169266	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:138169266C>T	uc002tva.1	+	12	2690	c.2690C>T	c.(2689-2691)tCc>tTc	p.S897F	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S787F	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAATTTATATCCCAACCTTAT	0.463000														103			45		0	0	0.00195071	0	0
BAI2	576	broad.mit.edu	37	1	32207011	32207011	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:32207011C>T	uc001btn.3	-	10	2111	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	BAI2_uc010ogo.2_Missense_Mutation_p.R228H|BAI2_uc010ogp.2_Missense_Mutation_p.R519H|BAI2_uc010ogq.2_Missense_Mutation_p.R586H|BAI2_uc001bto.3_Missense_Mutation_p.R586H|BAI2_uc001btq.1_Missense_Mutation_p.R519H|BAI2_uc010ogr.1_Intron	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	586					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGAGATGCAGCGAGCAAAGCT	0.622000														19			10		0	0	0.000673444	0	0
HSPG2	3339	broad.mit.edu	37	1	22181372	22181372	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:22181372G>A	uc009vqd.3	-	47	6145	c.6105C>T	c.(6103-6105)gcC>gcT	p.A2035A	HSPG2_uc001bfj.3_Silent_p.A2034A	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2034	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCCGGGCCTGGGCAGTGCCTG	0.657000														36			12		0	0	0.000422831	0	0
LLGL2	3993	broad.mit.edu	37	17	73567118	73567118	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:73567118G>A	uc002joh.3	+	16	2267	c.2113G>A	c.(2113-2115)Gca>Aca	p.A705T	LLGL2_uc002joi.3_Missense_Mutation_p.A705T|LLGL2_uc010dgg.2_Missense_Mutation_p.A705T|LLGL2_uc002joj.3_Missense_Mutation_p.A694T|LLGL2_uc010wsd.2_Missense_Mutation_p.A332T	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	705					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCTCGCTCGGCAGAGGACTC	0.652000														88			51		0	0	0.000781405	0	0
SLC30A9	10463	broad.mit.edu	37	4	42080259	42080259	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:42080259C>T	uc003gwl.3	+	16	1725	c.1579C>T	c.(1579-1581)Cta>Tta	p.L527L	SLC30A9_uc011byx.2_Silent_p.L287L	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	527					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTGAAGAACTAGAGACCTT	0.294000														101			23		0	0	0.00047179	0	0
CLCN1	1180	broad.mit.edu	37	7	143047514	143047514	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143047514C>T	uc003wcr.1	+	20	2540	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	CLCN1_uc011ktc.1_Missense_Mutation_p.S430F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	818					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGTTTTGATTCCTGCTGTATT	0.557000														26			10		0	0	0.00185496	0	0
DNM3	26052	broad.mit.edu	37	1	172356341	172356341	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:172356341G>A	uc001gie.3	+	18	2303	c.2127G>A	c.(2125-2127)atG>atA	p.M709I	DNM3_uc001gif.3_Missense_Mutation_p.M705I|DNM3_uc001gih.1_Missense_Mutation_p.M65I	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	715	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATACCCTGATGGAGGAATCTG	0.463000														108			8		0	0	0.000157383	0	0
RABGEF1	27342	broad.mit.edu	37	7	66103239	66103239	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:66103239G>A	uc003tvf.3	+	2	329	c.-887_splice	c.e2-1		KCTD7_uc003tvd.4_Splice_Site_p.G105_splice|KCTD7_uc003tve.3_Splice_Site_p.G105_splice	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TTCCTGCTTAGAGATGTGCTG	0.557000														84			30		0	0	0.000692331	0	0
CCDC61	729440	broad.mit.edu	37	19	46498721	46498721	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:46498721C>T	uc002pdw.3	+	1	119	c.119C>T	c.(118-120)tCg>tTg	p.S40L	CCDC61_uc021uwd.1_5'UTR	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GCTGGAGCTTCGTCAGTTGAA	0.622000														14			13		0	0	0.000308642	0	0
CPAMD8	27151	broad.mit.edu	37	19	17014391	17014391	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17014391C>T	uc002nfb.3	-	33	4623	c.4591G>A	c.(4591-4593)Gac>Aac	p.D1531N	CPAMD8_uc002nfd.1_5'UTR	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1484						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGCAGCCGTCCCCCTTGGCA	0.617000														56			32		0	0	0.00058488	0	0
MTBP	27085	broad.mit.edu	37	8	121471542	121471542	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:121471542C>T	uc003ypc.1	+	7	880	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	MTBP_uc011lie.1_Non-coding_Transcript	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	279					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTGACTTCCTTGCCAAAAA	0.294000														72			16		0	0	0.000566183	0	0
MYOC	4653	broad.mit.edu	37	1	171621368	171621368	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:171621368C>T	uc001ghu.3	-	0	406	c.384G>A	c.(382-384)cgG>cgA	p.R128R	MYOC_uc010pmk.2_Intron	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	128					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCAGCTGGTCCCGCTCCCGCC	0.612000														50			27		0	0	0.000878237	0	0
MYO7A	4647	broad.mit.edu	37	11	76922920	76922920	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:76922920C>T	uc001oyb.2	+	45	6564	c.6292C>T	c.(6292-6294)Ctg>Ttg	p.L2098L	MYO7A_uc001oyc.2_Silent_p.L2060L|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	2098	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGGCCAAGCTGGCCTTCCT	0.597000														25			16		0	0	0.00121646	0	0
ZC3H6	376940	broad.mit.edu	37	2	113088891	113088891	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113088891C>T	uc002thq.1	+	11	2790	c.2396C>T	c.(2395-2397)tCt>tTt	p.S799F		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	799							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATAGGCTCTTCTGTTGGTGGA	0.448000														87			31		0	0	0.00178596	0	0
RRH	10692	broad.mit.edu	37	4	110763678	110763678	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:110763678C>T	uc003hzv.3	+	5	808	c.774C>T	c.(772-774)atC>atT	p.I258I		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	258					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CTTATTCCATCGTGTGCTTAT	0.413000														65			16		0	0	0.000566183	0	0
PTPN14	5784	broad.mit.edu	37	1	214537942	214537942	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:214537942G>A	uc001hkk.2	-	17	4001	c.3348C>T	c.(3346-3348)ccC>ccT	p.P1116P	PTPN14_uc021piy.1_Silent_p.P880P	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	1116	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.P1115Q(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGACCACGATGGGCGGGTGCC	0.542000														36			16		0	0	0.000958276	0	0
IKBIP	121457	broad.mit.edu	37	12	99020400	99020401	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:99020400_99020401GG>AA	uc001tfx.3	-	2	551_552	c.441_442CC>TT	c.(439-444)agcctt>agTTtt	p.L148F	IKBIP_uc001tfv.3_Intron|IKBIP_uc001tfw.3_Intron	NM_153687	NP_710154	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 1, mRNA.	150					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTCTCATTAAGGCTTTGCATCC	0.356000														103			38		0	0	6.4e-05	0	0
ACAN	176	broad.mit.edu	37	15	89400471	89400471	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:89400471G>A	uc010upo.1	+	11	5029	c.4655G>A	c.(4654-4656)gGa>gAa	p.G1552E	ACAN_uc010upp.1_Missense_Mutation_p.G1552E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1552					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTTCTGGAGGAGAAGGTCTA	0.537000														24			7		0	0	0.000274275	0	0
OR2C3	81472	broad.mit.edu	37	1	247695301	247695301	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:247695301C>T	uc021pmb.1	-	0	513	c.513G>A	c.(511-513)ggG>ggA	p.G171G	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.G171G	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCAATTGTTCCCACACAGCG	0.562000														19			16		0	0	0.000422831	0	0
C1orf123	54987	broad.mit.edu	37	1	53684567	53684567	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:53684567G>A	uc001cvd.3	-	2	161	c.119C>T	c.(118-120)tCg>tTg	p.S40L		NM_017887	NP_060357	Q9NWV4	CA123_HUMAN	Homo sapiens chromosome 1 open reading frame 123 (C1orf123), mRNA.	40								p.S40S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CCACTTGTCCGAAATCTCACC	0.488000														138			36		0	0	0.00195071	0	0
STX5	6811	broad.mit.edu	37	11	62592967	62592967	+	Silent	SNP	G	A	A	rs146258093		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:62592967G>A	uc001nvh.3	-	5	625	c.468C>T	c.(466-468)ttC>ttT	p.F156F	STX5_uc010rmj.2_Silent_p.F156F|STX5_uc010rmi.2_Silent_p.F60F	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	156					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus	SNAP receptor activity|protein N-terminus binding			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TGGCTCTCACGAAATCCTGGA	0.532000														72			36		0	0	0.000509022	0	0
ATP2B4	493	broad.mit.edu	37	1	203682370	203682370	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:203682370C>T	uc001gzw.3	+	13	3186	c.2289C>T	c.(2287-2289)acC>acT	p.T763T	ATP2B4_uc001gzv.3_Silent_p.T763T|ATP2B4_uc009xaq.3_Silent_p.T763T	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	763					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAAGCACACCCTGGTGAAAG	0.562000														68			11		0	0	0.000219431	0	0
ROBO2	6092	broad.mit.edu	37	3	77671460	77671460	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:77671460G>A	uc011bgk.2	+	23	4292	c.3649G>A	c.(3649-3651)Gaa>Aaa	p.E1217K	ROBO2_uc021xat.1_Missense_Mutation_p.E1229K|ROBO2_uc003dpy.4_Missense_Mutation_p.E1213K|ROBO2_uc003dpz.3_Missense_Mutation_p.E1217K|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1213					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTCTGATTTGGAAACGGATGT	0.478000														49			16		0	0	0.000566183	0	0
FAM47A	158724	broad.mit.edu	37	X	34149583	34149583	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:34149583C>T	uc004ddg.3	-	0	865	c.813G>A	c.(811-813)agG>agA	p.R271R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	271										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						CTTCCAGCTTCCTCTCAGAAT	0.582000														14			6		0	0	0.00198382	0	0
CAPN13	92291	broad.mit.edu	37	2	30966436	30966436	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:30966436C>T	uc021vfn.1	-	11	1290	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.E416K|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	420					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GGAAATTTCTCCCGGAACCGC	0.478000														29			10		0	0	0.000978159	0	0
MYBPC1	4604	broad.mit.edu	37	12	102040583	102040583	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:102040583C>T	uc001tii.3	+	10	1073	c.933C>T	c.(931-933)atC>atT	p.I311I	MYBPC1_uc001tif.2_Silent_p.I324I|MYBPC1_uc001tig.3_Silent_p.I336I|MYBPC1_uc010svr.2_Silent_p.I311I|MYBPC1_uc010svs.2_Silent_p.I311I|MYBPC1_uc001tij.3_Silent_p.I311I|MYBPC1_uc010svt.2_Silent_p.I299I|MYBPC1_uc010svu.2_Silent_p.I292I|MYBPC1_uc001tik.3_Silent_p.I285I|MYBPC1_uc001tih.3_Silent_p.I336I|MYBPC1_uc010svq.2_Silent_p.I298I	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	311	Ig-like C2-type 2.			HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCCTGTTTATCAATAACTGTC	0.348000														36			32		0	0	0.000491102	0	0
MET	4233	broad.mit.edu	37	7	116409747	116409747	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:116409747G>A	uc003vij.3	+	11	2819	c.2632G>A	c.(2632-2634)Gga>Aga	p.G878R	MET_uc022akk.1_Missense_Mutation_p.G878R|MET_uc010lkh.3_Missense_Mutation_p.G896R|MET_uc011knj.2_Missense_Mutation_p.G448R	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	878					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTAAAAGTTGGAAATAAGAG	0.378000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					54			10		0	0	0.000978159	0	0
PLXNA4	91584	broad.mit.edu	37	7	131912289	131912289	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:131912289C>T	uc003vra.4	-	6	2032	c.1803G>A	c.(1801-1803)atG>atA	p.M601I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	601						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGCCCATCCATCTCTGACA	0.607000														39			14		0	0	0.000422831	0	0
COL5A3	50509	broad.mit.edu	37	19	10089891	10089891	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:10089891G>A	uc002mmq.1	-	38	2877	c.2791C>T	c.(2791-2793)Cta>Tta	p.L931L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	931	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTTCACCTAGAGGTCCCACT	0.602000														43			5		0	0	0.00198382	0	0
TTLL4	9654	broad.mit.edu	37	2	219617531	219617531	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219617531C>T	uc002viy.3	+	16	3392	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	TTLL4_uc010zkl.1_Missense_Mutation_p.R843W|TTLL4_uc010fvx.3_Missense_Mutation_p.R944W|TTLL4_uc010zkm.1_Missense_Mutation_p.R211W	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	1008					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.R1008R(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGATGATGTTCGGATTCTGGT	0.478000														100			27		0	0	0.00209593	0	0
ADSL	158	broad.mit.edu	37	22	40742611	40742611	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:40742611C>T	uc003ayp.4	+	0	108	c.49C>T	c.(49-51)Ctt>Ttt	p.L17F	ADSL_uc003ays.4_Missense_Mutation_p.L17F	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	17					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CCGCTCACCTCTTGCCTCCCG	0.647000														17			4		0	0	0.000602214	0	0
MN1	4330	broad.mit.edu	37	22	28192897	28192897	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:28192897C>T	uc003adj.3	-	0	4590	c.3635G>A	c.(3634-3636)aGc>aAc	p.S1212N		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1212							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTCAATGGTGCTCATGGCGCT	0.662000			T	ETV6	"""AML, meningioma"""									41			18		0	0	0.00074312	0	0
TRHR	7201	broad.mit.edu	37	8	110100421	110100421	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110100421C>T	uc003ymz.4	+	0	769	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	227						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCTTCAGATCCTAAAGAAAAC	0.368000														42			6		0	0	0.00116845	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514562	149514563	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149514562_149514563GG>TA	uc003lro.3	-	3	850_851	c.381_382CC>TA	c.(379-384)ttcctc>ttTAtc	p.L128I	PDGFRB_uc010jhd.3_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.L128I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	128					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 DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|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)	TCATTAGGGAGGAAGCCCACGG	0.520000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									52			8		0	0	6.4e-05	0	0
DYSF	8291	broad.mit.edu	37	2	71883420	71883420	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:71883420G>A	uc010fen.3	+	43	4896	c.4755_splice	c.e43+1	p.K1585_splice	DYSF_uc010fei.3_Splice_Site_p.K1563_splice|DYSF_uc010feh.3_Splice_Site_p.K1553_splice|DYSF_uc002sig.4_Splice_Site_p.K1532_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.K1577_splice|DYSF_uc010fee.3_Splice_Site_p.K1567_splice|DYSF_uc010fef.3_Splice_Site_p.K1584_splice|DYSF_uc002sie.3_Splice_Site_p.K1546_splice|DYSF_uc010feo.3_Splice_Site_p.K1578_splice|DYSF_uc010fej.3_Splice_Site_p.K1554_splice|DYSF_uc010fel.3_Splice_Site_p.K1533_splice|DYSF_uc010fem.3_Splice_Site_p.K1568_splice|DYSF_uc002sif.3_Splice_Site_p.K1547_splice|DYSF_uc010fek.3_Splice_Site_p.K1564_splice|DYSF_uc010yqy.2_Splice_Site_p.K427_splice|DYSF_uc010yqz.2_Splice_Site_p.K307_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1546	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGAATTTAAGGTAAATCCTC	0.522000														175			37		0	0	0.00128727	0	0
TRIM58	25893	broad.mit.edu	37	1	248020688	248020688	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248020688C>T	uc001ido.3	+	0	188	c.140C>T	c.(139-141)tCg>tTg	p.S47L		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	47						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCGAGAAGTCGGACGGCGCG	0.716000														29			5		0	0	0.00116845	0	0
NPHP3	27031	broad.mit.edu	37	3	132338315	132338315	+	Silent	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:132338315G>T	uc003eov.4	-	9	1652	c.1272C>A	c.(1270-1272)ctC>ctA	p.L424L	NPHP3_uc011blr.1_Silent_p.L35L	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCTTACCTTGAGTTTATCAA	0.294000														115			6		0.00198382	0.00929871	0.00198382	1	0
SGK223	157285	broad.mit.edu	37	8	8234649	8234649	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:8234649G>A	uc003wsh.4	-	1	1270	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	424							ATP binding|non-membrane spanning protein tyrosine kinase activity										GACTTGGAAGGCACCGGAGCT	0.632000														53			34		0	0	0.00148497	0	0
BMP8B	656	broad.mit.edu	37	1	40230324	40230324	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:40230324G>T	uc001cdz.1	-	3	1215	c.839C>A	c.(838-840)cCg>cAg	p.P280Q	BMP8B_uc001cea.1_Missense_Mutation_p.P305Q	NM_001720	NP_001711	P34820	BMP8B_HUMAN	Homo sapiens bone morphogenetic protein 8b (BMP8B), mRNA.	280					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTTGGCCTGCGGCAGCTCGTT	0.647000														94			5		0.00198382	0.00929871	0.00198382	1	0
KCNH7	90134	broad.mit.edu	37	2	163253381	163253381	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:163253381G>A	uc002uch.2	-	10	2711	c.2482C>T	c.(2482-2484)Ctc>Ttc	p.L828F		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	828					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.L828H(1)|p.A827T(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAGTATGTGAGGGCTCTTACA	0.353000														23			8		0	0	0.000673444	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887590	12887590	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12887590C>T	uc001auk.2	-	2	463	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	89										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTTTGTTCCTCTTGGCATTGA	0.483000														292			82		0	0	0.000781405	0	0
CD1B	910	broad.mit.edu	37	1	158298751	158298751	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158298751G>A	uc001frx.3	-	4	1048	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	CD1B_uc001frw.3_Missense_Mutation_p.L259F	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	314					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.L313M(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGCAAAAGGAGCAAGGAAGGC	0.423000														65			25		0	0	0.000878237	0	0
CRISP1	167	broad.mit.edu	37	6	49803125	49803125	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:49803125G>A	uc003ozw.2	-	7	733	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CRISP1_uc003ozx.2_3'UTR|CRISP1_uc021zaj.1_Silent_p.F218F	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	218					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TGTCACAGTCGAAGTATTCAT	0.383000														64			21		0	0	0.00188189	0	0
PRDM10	56980	broad.mit.edu	37	11	129780471	129780471	+	Silent	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:129780471G>A	uc001qfm.3	-	19	3307	c.3075C>T	c.(3073-3075)tcC>tcT	p.S1025S	PRDM10_uc001qfj.3_Silent_p.S926S|PRDM10_uc001qfk.3_Silent_p.S888S|PRDM10_uc001qfl.3_Silent_p.S939S|PRDM10_uc010sbx.2_Silent_p.S935S|PRDM10_uc001qfn.3_Silent_p.S1021S	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	1012	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCCCCTGTGTGGAAGAACTGC	0.602000														20			16		0	0	0.000422831	0	0
USP6	9098	broad.mit.edu	37	17	5071275	5071275	+	Missense_Mutation	SNP	G	A	A	rs149187210		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:5071275G>A	uc002gau.1	+	33	5315	c.3085G>A	c.(3085-3087)Gag>Aag	p.E1029K	USP6_uc002gav.1_Missense_Mutation_p.E1029K|USP6_uc010ckz.1_Missense_Mutation_p.E712K	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1029					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGCGCAAGCCGAGCCCATCAA	0.522000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									31			26		0	0	0.000878237	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560960	44560961	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44560960_44560961CC>TT	uc002lcr.1	-	0	1028_1029	c.675_676GG>AA	c.(673-678)aagggg>aaAAgg	p.G226R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	226					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GATTTGTGCCCCTTGCTGTGGC	0.619000														22			8		0	0	6.4e-05	0	0
WNT3	7473	broad.mit.edu	37	17	44845715	44845715	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:44845715G>A	uc002ikv.2	-	3	1158	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	347					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCGTAGATGCGAATACACTCC	0.622000														35			13		0	0	0.000219431	0	0
KCNA6	3742	broad.mit.edu	37	12	4919931	4919931	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:4919931G>A	uc001qng.3	+	0	1590	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	KCNA6_uc021qtr.1_Missense_Mutation_p.E242K	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACCCCTGGGGAAATGGGGAC	0.557000										HNSCC(72;0.22)				69			31		0	0	0.000953801	0	0
NEK10	152110	broad.mit.edu	37	3	27203969	27203969	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:27203969C>T	uc010hfk.3	-	9	1158	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	NEK10_uc003cds.1_Missense_Mutation_p.R395Q|NEK10_uc010hfj.3_Intron			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	998							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTGAGATTTCGAAGAATCAC	0.458000														68			23		0	0	0.000375601	0	0
ENTPD3	956	broad.mit.edu	37	3	40464885	40464885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:40464885G>A	uc003ckd.4	+	8	1300	c.1208G>A	c.(1207-1209)tGg>tAg	p.W403*	ENTPD3_uc010hhy.3_Nonsense_Mutation_p.W403*|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	403						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TCACAGAATTGGAGTCAGGTC	0.388000														52			16		0	0	0.000566183	0	0
FCHSD2	9873	broad.mit.edu	37	11	72578910	72578911	+	Splice_Site	DNP	CG	AT	AT	rs140557765	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:72578910_72578911CG>AT	uc009ytl.3	-	13	1529	c.1308_splice	c.e13+1	p.S436_splice	FCHSD2_uc010rrg.2_Splice_Site_p.S300_splice|FCHSD2_uc001oth.4_Splice_Site_p.S380_splice|FCHSD2_uc001oti.2_Splice_Site_p.S395_splice	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	436							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAAATCGTACCGAGTGTAAAGT	0.401000														290			9		0	0	6.4e-05	0	0
HECW1	23072	broad.mit.edu	37	7	43506080	43506080	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:43506080C>A	uc003tid.1	+	14	3431	c.2826C>A	c.(2824-2826)aaC>aaA	p.N942K	HECW1_uc011kbi.1_Missense_Mutation_p.N908K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	942					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.E941A(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTCCAGTGAACTCACAAAAAA	0.453000														55			28		2.4375e-19	1.16486e-18	0.00127121	1	0
ABCB5	340273	broad.mit.edu	37	7	20687646	20687646	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:20687646G>A	uc010kuh.3	+	10	1388	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	ABCB5_uc003suw.4_5'UTR|ABCB5_uc003suv.4_5'UTR|ABCB5_uc011jyi.1_5'UTR	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	568	ABC transmembrane type-1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.I383I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCCATAGAAGGAACTGTGGAA	0.313000														47			5		0	0	0.000157383	0	0
C19orf44	84167	broad.mit.edu	37	19	16617511	16617511	+	Splice_Site	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16617511G>A	uc002neh.1	+	4	1149	c.1076_splice	c.e4-1	p.E359_splice	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Splice_Site_p.E359_splice|C19orf44_uc002neg.3_Splice_Site_p.E359_splice|C19orf44_uc010eai.1_Splice_Site	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	359										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTTAATTACAGAGTTTAGAAT	0.303000														26			6		0	0	0.000157383	0	0
MGAT4C	25834	broad.mit.edu	37	12	86383208	86383208	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:86383208C>T	uc010sum.2	-	3	348	c.189G>A	c.(187-189)atG>atA	p.M63I	MGAT4C_uc001tal.4_Missense_Mutation_p.M39I|MGAT4C_uc001taj.4_Missense_Mutation_p.M39I|MGAT4C_uc001tak.4_Missense_Mutation_p.M39I|MGAT4C_uc001tai.4_Missense_Mutation_p.M39I|MGAT4C_uc001tah.4_Missense_Mutation_p.M39I	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	39					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTACAAGTTCATAAAAAGGA	0.323000														23			9		0	0	0.000274275	0	0
MRPL20	55052	broad.mit.edu	37	1	1342391	1342392	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:1342391_1342392CC>AA	uc010nyn.1	-	1	191_192	c.95_96GG>TT	c.(94-96)cgg>cTT	p.R32L	MRPL20_uc001afo.4_Missense_Mutation_p.R32L	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA.	32							protein binding|rRNA binding	p.R32L(2)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)		TTTTCCTTCCCCGGAAGTGCTG	0.609000														423			12		0	0	6.4e-05	0	0
SYT10	341359	broad.mit.edu	37	12	33538208	33538208	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:33538208C>T	uc001rll.1	-	3	1393	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	SYT10_uc009zju.1_Missense_Mutation_p.E176K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	366	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AACATGATTTCACCCAGGTCT	0.398000														15			9		0	0	0.000442599	0	0
MYOM2	9172	broad.mit.edu	37	8	2044149	2044150	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:2044149_2044150GG>AA	uc003wpx.4	+	17	2326_2327	c.2188_2189GG>AA	c.(2188-2190)ggc>AAc	p.G730N	MYOM2_uc011kwi.2_Missense_Mutation_p.G155N	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	730	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle	p.L729H(1)		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)		CATGACCCTCGGCTGGAAGGTC	0.569000														84			33		0	0	6.4e-05	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247184	142247184	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142247184C>T	uc003vyd.4	-	1	297	c.272G>A	c.(271-273)gGa>gAa	p.G91E	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAGACGGATCCCTCAGGCCT	0.572000														30			16		0	0	0.000958276	0	0
DNAH8	1769	broad.mit.edu	37	6	38941535	38941535	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:38941535C>T	uc021yzh.1	+	83	12733	c.12624C>T	c.(12622-12624)ttC>ttT	p.F4208F	DNAH8_uc003ooe.2_Silent_p.F3991F|DNAH8_uc003oog.1_Silent_p.F440F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						ATGATTCTTTCCGAGTATGGA	0.403000														31			13		0	0	0.000308642	0	0
C2orf51	200523	broad.mit.edu	37	2	88828788	88828788	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:88828788C>T	uc002stb.2	+	3	481	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	113						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						ATCCAGCTTCCCACGATCTGC	0.602000														78			10		0	0	0.000978159	0	0
CHPF	79586	broad.mit.edu	37	2	220405064	220405064	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220405064G>A	uc002vmc.4	-	3	1596	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S	CHPF_uc010zlh.2_Missense_Mutation_p.P295S	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	457						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCCGGGCCGGATCAAAGCGT	0.667000														70			27		0	0	0.000692331	0	0
USP11	8237	broad.mit.edu	37	X	47106753	47106753	+	Missense_Mutation	SNP	C	T	T	rs140077263	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:47106753C>T	uc004dhp.3	+	18	2600	c.2600C>T	c.(2599-2601)cCg>cTg	p.P867L	USP11_uc004dhq.3_Missense_Mutation_p.P593L	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	867					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P867L(2)		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						GAGTCGAATCCGGAGCTGTAC	0.567000														23			17		0	0	0.000958276	0	0
CHST5	23563	broad.mit.edu	37	16	75563795	75563795	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:75563795C>T	uc002fej.1	-	4	827	c.506G>A	c.(505-507)gGc>gAc	p.G169D	CHST5_uc002fei.3_Missense_Mutation_p.G163D|CHST5_uc021tlk.1_Missense_Mutation_p.G163D	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	163					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCTGATGGTGCCTCGGGGAAA	0.652000														92			54		0	0	0.000781405	0	0
POF1B	79983	broad.mit.edu	37	X	84563138	84563138	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:84563138C>T	uc004eer.2	-	9	1188	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	POF1B_uc004ees.3_Missense_Mutation_p.D348N	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	348							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTGTCATATCATTTTGAAGA	0.358000														8			5		0	0	0.000602214	0	0
DDX27	55661	broad.mit.edu	37	20	47858706	47858706	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47858706C>T	uc002xuh.3	+	17	2233	c.2172C>T	c.(2170-2172)gcC>gcT	p.A724A		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	724						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCAAGCGGGCCCGAGCAATGC	0.567000														39			9		0	0	0.000274275	0	0
TRBV2	28620	broad.mit.edu	37	7	142001083	142001083	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142001083G>A	uc011kro.1	+	1	220	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACAAATCTTGGGGCAGAAAGT	0.418000														18			10		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179585332	179585332	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179585332C>T	uc021vsy.1	-	76	19650	c.19425G>A	c.(19423-19425)gtG>gtA	p.V6475V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3136V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7402	Ig-like 46.						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)			ATTGGAGAATCACATCAGAAC	0.398000														28			5		0	0	0.000602214	0	0
KCNH2	3757	broad.mit.edu	37	7	150649632	150649632	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150649632C>T	uc003wic.3	-	5	1839	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	KCNH2_uc003wib.3_Missense_Mutation_p.E140K|KCNH2_uc011kux.2_Missense_Mutation_p.E384K|KCNH2_uc003wid.3_Missense_Mutation_p.E140K|KCNH2_uc003wie.3_Missense_Mutation_p.E480K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	480					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.E480E(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ACCACCTCCTCGTTGGCATTG	0.597000														88			20		0	0	0.000720815	0	0
DCAF11	80344	broad.mit.edu	37	14	24587638	24587638	+	Missense_Mutation	SNP	C	T	T	rs151306695	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24587638C>T	uc001wlv.3	+	6	899	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	DCAF11_uc001wlw.3_Missense_Mutation_p.R207C|DCAF11_uc001wlz.3_Missense_Mutation_p.R107C|DCAF11_uc001wly.3_Missense_Mutation_p.R163C|DCAF11_uc010tny.2_Missense_Mutation_p.R74C|DCAF11_uc001wmc.3_Missense_Mutation_p.R107C|DCAF11_uc001wmb.4_Missense_Mutation_p.R181C|DCAF11_uc001wma.4_Missense_Mutation_p.R207C	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	207			R -> H (in dbSNP:rs3825584).			CUL4 RING ubiquitin ligase complex	protein binding										TGGCCGTTTCCGTAAATTCAA	0.488000														149			24		0	0	0.000720815	0	0
GADL1	339896	broad.mit.edu	37	3	30819706	30819706	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:30819706C>T	uc003cep.2	-	13	1404	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	453					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGTCCTTCTTCCATCTCTCTG	0.328000														111			39		0	0	0.000589545	0	0
FER1L6	654463	broad.mit.edu	37	8	125076727	125076727	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:125076727C>T	uc003yqw.3	+	25	3674	c.3468C>T	c.(3466-3468)atC>atT	p.I1156I	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1156						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCCGGCCATCCTGGTTGACG	0.577000														42			8		0	0	0.000157383	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360854	105360854	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:105360854G>A	uc003ylx.1	+	1	123	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	25					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AGAAGCCCCGGATGGATGGAC	0.498000														43			9		0	0	0.000274275	0	0
SPINK5	11005	broad.mit.edu	37	5	147499601	147499601	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:147499601G>A	uc003lox.2	+	24	2416	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	SPINK5_uc010jgr.2_Missense_Mutation_p.M762I|SPINK5_uc003low.2_Missense_Mutation_p.M781I|SPINK5_uc003loy.2_Missense_Mutation_p.M781I	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	781	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.Q780R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCAAATGAAAAATGGAA	0.383000														23			9		0	0	0.000442599	0	0
SLIT1	6585	broad.mit.edu	37	10	98817007	98817007	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:98817007G>A	uc001kmw.2	-	11	1369	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	SLIT1_uc009xvh.1_Missense_Mutation_p.P383S	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	373					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACACCACGGGGGAGGTCTGTG	0.567000														32			5		0	0	0.00116845	0	0
MECR	51102	broad.mit.edu	37	1	29543154	29543154	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:29543154G>T	uc001brq.1	-	1	256	c.220C>A	c.(220-222)Cgt>Agt	p.R74S	MECR_uc001brp.1_5'UTR|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Missense_Mutation_p.R74S	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	74					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		ATCTTCACACGGACATCTGAT	0.458000														228			97		9.4957e-49	4.54518e-48	0.000781405	1	0
TRIO	7204	broad.mit.edu	37	5	14369570	14369570	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:14369570G>A	uc003jff.3	+	17	3160	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.E1003K|TRIO_uc003jfh.1_Missense_Mutation_p.E701K	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1052					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCAAACTCTGAGACGGACCA	0.602000														57			9		0	0	0.000442599	0	0
ROBO4	54538	broad.mit.edu	37	11	124767049	124767049	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:124767049G>A	uc001qbg.3	-	1	319	c.179C>T	c.(178-180)cCt>cTt	p.P60L	ROBO4_uc010sas.2_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	60	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GATGGTGGGAGGTGGCTGGCC	0.672000														8			6		0	0	0.00198382	0	0
CYP4F3	4051	broad.mit.edu	37	19	15763658	15763658	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:15763658C>T	uc010xok.2	+	8	1061	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	CYP4F3_uc010xol.2_Silent_p.L337L|CYP4F3_uc002nbj.3_Silent_p.L337L|CYP4F3_uc010xom.2_Silent_p.L188L|CYP4F3_uc002nbk.3_Silent_p.L337L|CYP4F3_uc010xon.2_Silent_p.L47L	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	337					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCAGTGGTCTCTCCTGGGTCC	0.597000											OREG0007254	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		56			13		0	0	0.00185496	0	0
ABL2	27	broad.mit.edu	37	1	179079431	179079431	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:179079431G>A	uc001gmj.4	-	10	2098	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	ABL2_uc010pnf.2_Missense_Mutation_p.S604F|ABL2_uc010png.2_Missense_Mutation_p.S583F|ABL2_uc010pnh.2_Missense_Mutation_p.S583F|ABL2_uc001gmg.4_Missense_Mutation_p.S589F|ABL2_uc001gmi.4_Missense_Mutation_p.S589F|ABL2_uc010pne.2_Missense_Mutation_p.S568F	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	604					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGCTAAACTGGAAGCAGAATT	0.453000			T	ETV6	AML									238			121		0	0	0.000781405	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583473	80583473	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:80583473C>T	uc002ffo.3	+	2	292	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA.	58					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						AAGCACAGTTCGTGATATTGA	0.403000														31			19		0	0	0.000958276	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:122812709C>T	uc001ucg.2	-	17	3189	c.3034_splice	c.e17-1	p.E1012_splice	CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1012					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493000														97			15		0	0	0.00074312	0	0
POLR3E	55718	broad.mit.edu	37	16	22320279	22320279	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:22320279C>T	uc002dkk.3	+	4	355	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	POLR3E_uc002dkj.1_Missense_Mutation_p.P67S|POLR3E_uc002dkm.3_Missense_Mutation_p.P31S|POLR3E_uc010vbr.2_Missense_Mutation_p.P67S|POLR3E_uc002dkl.3_Missense_Mutation_p.P67S|POLR3E_uc010vbs.2_Missense_Mutation_p.P31S|POLR3E_uc010vbt.2_Intron	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	67					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CACCCTGAACCCCAACTATTG	0.617000														53			24		0	0	0.00127121	0	0
KCNN4	3783	broad.mit.edu	37	19	44278600	44278600	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:44278600C>T	uc002oxl.3	-	2	823	c.427G>A	c.(427-429)Gga>Aga	p.G143R		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	143					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCCAGGAATCCCGGCCAGGGC	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			3		0	0	0.00024832	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714125	81714125	+	Silent	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:81714125C>T	uc003uhr.1	-	6	874	c.618G>A	c.(616-618)caG>caA	p.Q206Q		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	206						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCCAAAAACCTGCCACAATA	0.408000														59			15		0	0	0.000422831	0	0
PRPS2	5634	broad.mit.edu	37	X	12838834	12838834	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:12838834C>T	uc004cva.3	+	5	928	c.785C>T	c.(784-786)tCc>tTc	p.S262F	PRPS2_uc004cvb.3_Missense_Mutation_p.S259F|PRPS2_uc010nec.3_Missense_Mutation_p.S137F	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	259					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CCAGCTATTTCCAGAATAAAT	0.438000														41			21		0	0	0.00229938	0	0
LCE5A	254910	broad.mit.edu	37	1	152484024	152484024	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152484024delA	uc021oyx.1	+	0	14	c.14delA	c.(13-15)cagfs	p.Q5fs	LCE5A_uc001ezy.3_Frame_Shift_Del_p.Q5fs|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	5	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGCCAGCAGAGCCAGCAG	0.488													---	56	---	---	14	---					
APOB	338	broad.mit.edu	37	2	21224642	21224649	+	Frame_Shift_Del	DEL	TAGGGGTT	-	-	rs145832414		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:21224642_21224649delTAGGGGTT	uc002red.3	-	28	13773_13780	c.13645_13652delAACCCCTA	c.(13645-13653)aacccctacfs	p.N4549fs		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4549					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGCTTCATGTAGGGGTTCATGACTGTG	0.356													---	306	---	---	58	---					
FEM1C	56929	broad.mit.edu	37	5	114860413	114860413	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:114860413delG	uc003krb.1	-	2	2008	c.1446delC	c.(1444-1446)aacfs	p.N482fs	FEM1C_uc021ycp.1_Frame_Shift_Del_p.N189fs	NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	Homo sapiens fem-1 homolog c (C. elegans) (FEM1C), mRNA.	482						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GAGGGCTGAAGTTATTCTTTC	0.398													---	69	---	---	7	---					
FAM53C	51307	broad.mit.edu	37	5	137680962	137680967	+	In_Frame_Del	DEL	CCTGGC	-	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:137680962_137680967delCCTGGC	uc003lcv.3	+	3	1055_1060	c.585_590delCCTGGC	c.(583-591)agcctggcc>agc	p.LA198del	FAM53C_uc003lcw.3_In_Frame_Del_p.LA198del|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	198										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTTTCTTCAGCCTGGCCCTGGCCCAA	0.636													---	257	---	---	22	---					
ADRA1B	147	broad.mit.edu	37	5	159399204	159399204	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:159399204delC	uc003lxt.1	+	1	1441	c.1268delC	c.(1267-1269)tcgfs	p.S423fs		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	423					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	ACCCTGCCCTCGGCCTCGCCG	0.771													---	4	---	---	2	---					
CDK13	8621	broad.mit.edu	37	7	39991038	39991038	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:39991038delC	uc003thh.4	+	0	1080	c.798delC	c.(796-798)agcfs	p.S266fs	CDK13_uc003thi.4_Frame_Shift_Del_p.S266fs	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	266					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CCACATCCAGCAGCAGTAGCA	0.697													---	4	---	---	2	---					
PLXNC1	10154	broad.mit.edu	37	12	94673258	94673258	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:94673258delT	uc001tdc.3	+	21	3857	c.3608delT	c.(3607-3609)gtcfs	p.V1203fs	PLXNC1_uc010sut.2_Frame_Shift_Del_p.V250fs|PLXNC1_uc009zsv.3_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1203					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCATTAAACGTCGTCTTTGAA	0.408													---	43	---	---	22	---					
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	-	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24633132_24633134delAGC	uc001wmq.3	+	4	1361_1363	c.541_543delAGC	c.(541-543)agcdel	p.S187del	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_In_Frame_Del_p.S85del	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	187	Poly-Ser.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567													---	72	---	---	7	---					
C16orf74	404550	broad.mit.edu	37	16	85743879	85743881	+	In_Frame_Del	DEL	GCT	-	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:85743879_85743881delGCT	uc002fjc.4	-	2	237_239	c.61_63delAGC	c.(61-63)agcdel	p.S21del		NM_206967	NP_996850	Q96GX8	CP074_HUMAN	Homo sapiens chromosome 16 open reading frame 74 (C16orf74), mRNA.	21																	CCTCGTCGTGGCTGCTGCTGCTG	0.635													---	6	---	---	3	---					
ZNF831	128611	broad.mit.edu	37	20	57829145	57829145	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:57829145delC	uc002yan.3	+	4	4381	c.4381delC	c.(4381-4383)cccfs	p.P1461fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1461						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)					CTCAACAGATCCCAAACCATA	0.527													---	43	---	---	33	---