Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR51V1	283111	broad.mit.edu	37	11	5220988	5220988	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:5220988G>A	ENST00000321255.1	-	1	942	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAAAAGAGTCTAAGCATT	0.348000													16	40					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113285576	113285576	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:113285576G>T	ENST00000389385.4	+	5	656	c.159G>T	c.(157-159)gaG>gaT	p.E53D	RPH3A_ENST00000543106.2_Missense_Mutation_p.E53D|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Missense_Mutation_p.E53D|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000420983.2_Missense_Mutation_p.E53D|RPH3A_ENST00000551052.1_Missense_Mutation_p.E49D	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	53	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGACTGATGAGGAGAAAGAAA	0.547000													8	72					0.27861	0.27945	1	1	0
LMBRD1	55788	broad.mit.edu	37	6	70408994	70408994	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:70408994T>C	ENST00000370577.3	-	13	1508	c.1279A>G	c.(1279-1281)Atg>Gtg	p.M427V	LMBRD1_ENST00000370570.1_Missense_Mutation_p.M354V	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	427					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CTATAAATCATGTAGCTAGTG	0.333000													33	75					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67109503	67109503	+	Splice_Site	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:67109503T>C	ENST00000284425.2	-	15	2077		c.e15-2			NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGCAAAATCTACAGAGAATG	0.358000													5	43					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287422	16287422	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr22:16287422C>G	ENST00000343518.6	-	1	515	c.464G>C	c.(463-465)gGc>gCc	p.G155A		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	155										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCAAGGGCCCACTTTGTT	0.592000													29	793					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302834	163302834	+	Silent	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:163302834C>A	ENST00000332142.5	-	7	1347	c.1248G>T	c.(1246-1248)ctG>ctT	p.L416L	KCNH7_ENST00000328032.4_Silent_p.L409L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	416					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			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)	ATATGACCAACAGCAGGATAA	0.453000													16	55					9.16793e-09	1.05637e-08	1	1	0
HNRNPM	4670	broad.mit.edu	37	19	8531219	8531219	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:8531219G>A	ENST00000348943.3	+	8	846	c.614G>A	c.(613-615)cGt>cAt	p.R205H	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R244H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	244	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGAAAAAGTCGTGGAATAGGC	0.398000													37	100					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105075045	105075045	+	Splice_Site	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:105075045A>T	ENST00000428173.2	+	2	360		c.e2-1		NRK_ENST00000243300.9_Splice_Site|NRK_ENST00000536164.1_Splice_Site			Q7Z2Y5	NRK_HUMAN	Nik related kinase								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						ACTTTTTTGCAGGATCCAACT	0.289000										HNSCC(51;0.14)			16	27					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33945041	33945041	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:33945041G>A	ENST00000361328.3	+	2	305	c.152G>A	c.(151-153)cGc>cAc	p.R51H	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R51H|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	51	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGGCCTCCCGCCAGCGCTTC	0.587000													30	47					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121412611	121412611	+	Silent	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:121412611T>C	ENST00000393667.3	-	13	6869	c.6759A>G	c.(6757-6759)gaA>gaG	p.E2253E	GOLGB1_ENST00000340645.5_Silent_p.E2248E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2248					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTTAATTCTTCCATATGGA	0.338000													24	138					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885913	88885913	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:88885913C>A	ENST00000319675.3	-	1	383	c.287G>T	c.(286-288)gGc>gTc	p.G96V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	96										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GTACTTGGAGCCTCCAGCTTC	0.547000													35	170					2.40579e-17	2.97817e-17	1	1	0
CDH8	1006	broad.mit.edu	37	16	61761041	61761041	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr16:61761041G>C	ENST00000577390.1	-	9	2447	c.1493C>G	c.(1492-1494)tCc>tGc	p.S498C	CDH8_ENST00000584337.1_Missense_Mutation_p.S498C|CDH8_ENST00000299345.6_Missense_Mutation_p.S498C|CDH8_ENST00000577730.1_Missense_Mutation_p.S498C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S498C(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTCATATTCGGATGCGAATTC	0.383000													41	140					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90848999	90848999	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:90848999C>G	ENST00000394980.1	+	6	1328	c.1009C>G	c.(1009-1011)Ctt>Gtt	p.L337V	MMRN1_ENST00000508372.1_Missense_Mutation_p.L79V|MMRN1_ENST00000264790.2_Missense_Mutation_p.L337V|MMRN1_ENST00000394981.1_Missense_Mutation_p.L303V			Q13201	MMRN1_HUMAN	multimerin 1	337					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)		GAAACTGACTCTTCTGCAGAA	0.358000													24	96					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905067	144905067	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:144905067C>A	ENST00000370490.1	+	1	5379	c.1124C>A	c.(1123-1125)aCc>aAc	p.T375N	SLITRK2_ENST00000428560.2_Missense_Mutation_p.T375N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.T375N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T375N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.T375N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	375						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAAACCGACCAGTCCAAAG	0.433000													34	43					1.21669e-08	1.3971e-08	1	1	0
GJC1	10052	broad.mit.edu	37	17	42882260	42882260	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:42882260A>G	ENST00000426548.1	-	3	1195	c.926T>C	c.(925-927)aTc>aCc	p.I309T	GJC1_ENST00000590758.1_Missense_Mutation_p.I309T|GJC1_ENST00000330514.4_Missense_Mutation_p.I309T|GJC1_ENST00000592524.1_Missense_Mutation_p.I309T	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	309					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTTGTAGGCGATCTTAGCATT	0.507000													16	206					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45005264	45005264	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:45005264G>C	ENST00000258787.7	-	17	2489	c.2353C>G	c.(2353-2355)Cag>Gag	p.Q785E		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	785						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGGTGTCCTGGAAGGGCTGC	0.622000													12	55					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790392	248790392	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:248790392C>A	ENST00000330803.2	-	1	99	c.38G>T	c.(37-39)gGg>gTg	p.G13V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACCAGAAGCCCCAGGAGGGT	0.517000													19	20					1.15919e-05	1.25736e-05	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133540585	133540585	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:133540585C>A	ENST00000409261.1	-	14	4172	c.3799G>T	c.(3799-3801)Ggt>Tgt	p.G1267C	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1267C	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1267							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						CCATTCATACCCAGAGCTGGT	0.537000													32	109					2.81731e-10	3.29181e-10	1	1	0
NFASC	23114	broad.mit.edu	37	1	204948666	204948666	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:204948666C>A	ENST00000367172.4	+	19	2483	c.2155C>A	c.(2155-2157)Cgc>Agc	p.R719S	NFASC_ENST00000404076.1_Missense_Mutation_p.R698S|NFASC_ENST00000367171.4_Missense_Mutation_p.R704S|NFASC_ENST00000404907.1_Missense_Mutation_p.R715S|NFASC_ENST00000401399.1_Missense_Mutation_p.R719S|NFASC_ENST00000367170.4_Missense_Mutation_p.R719S|NFASC_ENST00000338586.6_Missense_Mutation_p.R719S|NFASC_ENST00000338515.6_Missense_Mutation_p.R719S|NFASC_ENST00000513543.1_Missense_Mutation_p.R715S|NFASC_ENST00000367169.4_Missense_Mutation_p.R719S|NFASC_ENST00000339876.6_Missense_Mutation_p.R719S|NFASC_ENST00000360049.4_Missense_Mutation_p.R715S|NFASC_ENST00000539706.1_Missense_Mutation_p.R715S			O94856	NFASC_HUMAN	neurofascin	719	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCATCCGAGCGCTACCGAAC	0.622000													26	170					9.39395e-14	1.12931e-13	1	1	0
NOS1	4842	broad.mit.edu	37	12	117768758	117768758	+	Silent	SNP	C	C	A	rs147067686	by1000genomes	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:117768758C>A	ENST00000317775.6	-	2	802	c.117G>T	c.(115-117)ccG>ccT	p.P39P	NOS1_ENST00000344089.3_Silent_p.P39P|NOS1_ENST00000338101.4_Silent_p.P39P	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	39	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGATCACGGGCGGCTTACTGA	0.587000													9	72					0.00448238	0.00463551	1	1	0
ZAN	7455	broad.mit.edu	37	7	100350647	100350647	+	RNA	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:100350647G>A	ENST00000542585.1	+	0	3067				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			CCATCCCCACGGAAAAACTTA	0.542000													35	114					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071213	9071213	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:9071213G>T	ENST00000397910.4	-	3	16436	c.16233C>A	c.(16231-16233)caC>caA	p.H5411Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5413	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						CGGCTTCTGTGTGTGCAGTGT	0.502000													123	306					6.24089e-76	8.2469e-76	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137813996	137813996	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:137813996G>T	ENST00000409968.1	+	3	324	c.146G>T	c.(145-147)tGg>tTg	p.W49L	THSD7B_ENST00000272643.3_Missense_Mutation_p.W49L|THSD7B_ENST00000413152.2_Missense_Mutation_p.W18L					thrombospondin, type I, domain containing 7B											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)		GTAGGTCCGTGGGGAAGGTGT	0.468000													8	50					5.4927e-09	6.35094e-09	1	1	0
OR5H1	26341	broad.mit.edu	37	3	97852150	97852150	+	Silent	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:97852150A>T	ENST00000354565.2	+	1	609	c.609A>T	c.(607-609)tcA>tcT	p.S203S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TTATTTTCTCAGGTTCAATTC	0.308000													19	56					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90872809	90872809	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:90872809A>G	ENST00000394980.1	+	8	3491	c.3172A>G	c.(3172-3174)Aat>Gat	p.N1058D	MMRN1_ENST00000508372.1_Missense_Mutation_p.N800D|MMRN1_ENST00000264790.2_Missense_Mutation_p.N1058D|MMRN1_ENST00000394981.1_Missense_Mutation_p.N361D			Q13201	MMRN1_HUMAN	multimerin 1	1058	EGF-like.				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)		CACGTGCATAAATGGAAGAAC	0.423000													13	70					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216061814	216061814	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:216061814C>G	ENST00000366943.2	-	41	8563	c.8177G>C	c.(8176-8178)gGg>gCg	p.G2726A	USH2A_ENST00000307340.3_Missense_Mutation_p.G2726A|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2726	Fibronectin type-III 14.				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)		TGGCTGCACCCCAGCAGGTCG	0.498000										HNSCC(13;0.011)			24	57					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825385	196825385	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:196825385C>G	ENST00000312428.6	-	18	2590	c.2490G>C	c.(2488-2490)aaG>aaC	p.K830N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	830	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCTTCCACCTTTGATCTTA	0.418000													38	180					0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44428750	44428750	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:44428750A>G	ENST00000378551.2	+	2	824	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.M138V|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Missense_Mutation_p.M138V|PPM1B_ENST00000409432.3_Missense_Mutation_p.M138V	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	138					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGTGGGAGTTATGATTTCACC	0.413000													32	139					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882854	228882854	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:228882854C>G	ENST00000392056.3	-	7	2762	c.2716G>C	c.(2716-2718)Gat>Cat	p.D906H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D906H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	906						cytoplasm	protein binding	p.D906N(2)		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)		AGCAGGTCATCCCCTAACAAG	0.493000													20	193					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423617	47423617	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr21:47423617T>G	ENST00000361866.3	+	35	2891	c.2777T>G	c.(2776-2778)tTc>tGc	p.F926C	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	926	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GTGACCCGCTTCTACCGCGAG	0.637000													11	26					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119145660	119145660	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:119145660G>C	ENST00000296499.5	+	7	1957	c.1554G>C	c.(1552-1554)atG>atC	p.M518I	NDST3_ENST00000433996.2_Missense_Mutation_p.M437I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	518	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GCATTTTCATGACCCATTTGT	0.388000													40	91					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101368649	101368649	+	Missense_Mutation	SNP	G	G	A	rs141819648		TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:101368649G>A	ENST00000392979.3	+	6	840	c.479G>A	c.(478-480)cGt>cAt	p.R160H	ANO4_ENST00000392977.3_Missense_Mutation_p.R195H|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	195						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						CTGCCCCGCCGTTACAAGTTC	0.468000										HNSCC(74;0.22)			12	75					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527333	7527333	+	Silent	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:7527333T>C	ENST00000313599.3	-	13	3171	c.3114A>G	c.(3112-3114)ctA>ctG	p.L1038L	CD163L1_ENST00000416109.2_Silent_p.L1048L|CD163L1_ENST00000396630.1_Silent_p.L1038L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1038	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			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						CCCCATCCACTAGGCGGAGCC	0.527000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14485256	14485256	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:14485256G>T	ENST00000344204.4	+	47	6760	c.6736G>T	c.(6736-6738)Gta>Tta	p.V2246L	TRIO_ENST00000537187.1_Missense_Mutation_p.V2246L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2246	PH 2.				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|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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)					GGGTGACGTGGTAGAGACCTT	0.388000													138	112					3.45943e-77	4.5896e-77	1	1	0
TCP11	6954	broad.mit.edu	37	6	35088799	35088799	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:35088799C>T	ENST00000311875.5	-	6	1058	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	TCP11_ENST00000512012.1_Missense_Mutation_p.R201Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R139Q|TCP11_ENST00000444780.2_Missense_Mutation_p.R209Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R138Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R139Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R163Q|TCP11_ENST00000373974.4_Missense_Mutation_p.R168Q			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	201					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CATTTTCATCCGGCCCAGAAC	0.453000													96	191					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798804	241798804	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:241798804G>C	ENST00000366553.1	-	1	428	c.265C>G	c.(265-267)Ctt>Gtt	p.L89V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	89					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCTTGCGAAGAGTGATGGCT	0.438000													99	344					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850393	3850393	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:3850393G>T	ENST00000380274.1	+	1	774	c.348G>T	c.(346-348)aaG>aaT	p.K116N	FAM50B_ENST00000380272.3_Missense_Mutation_p.K116N			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	116						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCAAGCGTAAGATCTCCTGCC	0.697000													11	39					9.31168e-06	1.01665e-05	1	1	0
KLHL4	56062	broad.mit.edu	37	X	86877260	86877260	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:86877260C>T	ENST00000373119.4	+	5	1119	c.974C>T	c.(973-975)gCt>gTt	p.A325V	KLHL4_ENST00000373114.4_Missense_Mutation_p.A325V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	325						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTGCTTCCAGCTAATGAAATT	0.373000													15	17					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265720	32265720	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:32265720C>T	ENST00000360482.2	-	5	1754	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E	SPOCD1_ENST00000533231.1_Missense_Mutation_p.G542E|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G35E|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G483E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	542					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGCTGTGCCTCCTGAAGGAGA	0.627000													8	25					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28897127	28897127	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:28897127G>T	ENST00000375664.3	+	8	1406	c.797G>T	c.(796-798)gGa>gTa	p.G266V	WAC_ENST00000375646.1_Missense_Mutation_p.G163V|WAC_ENST00000354911.4_Missense_Mutation_p.G311V|WAC_ENST00000347934.4_Missense_Mutation_p.G208V|WAC_ENST00000428935.1_Missense_Mutation_p.G266V			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	311					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCTACATCAGGAGACAAACCC	0.443000													27	100					3.73988e-18	4.64694e-18	1	1	0
SEMA5B	54437	broad.mit.edu	37	3	122630893	122630893	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:122630893A>G	ENST00000195173.4	-	20	3217	c.2914T>C	c.(2914-2916)Tgg>Cgg	p.W972R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.W1028R|SEMA5B_ENST00000357599.3_Missense_Mutation_p.W974R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	974	TSP type-1 5.				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)		CACTTACTCCACTCAGACCAG	0.642000													20	30					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109798036	109798036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:109798036G>T	ENST00000230122.3	-	3	1217	c.1050C>A	c.(1048-1050)taC>taA	p.Y350*		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CGGTGCAGGTGTACGGCCGCT	0.592000													9	27					1.12685e-05	1.22628e-05	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10089581	10089581	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:10089581C>T	ENST00000264828.3	-	40	3035	c.2950G>A	c.(2950-2952)Ggc>Agc	p.G984S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	984	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)			TCCCCAGGGCCCCCTTTGGGG	0.612000													7	11					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147094155	147094155	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:147094155C>A	ENST00000234739.3	+	9	3726	c.2986C>A	c.(2986-2988)Cct>Act	p.P996T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	996	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTATACCATGCCTCCAGAGCC	0.502000			T	"""IGH@, IGL@"""	B-ALL								56	193					2.47907e-22	3.16295e-22	1	1	0
FGD6	55785	broad.mit.edu	37	12	95604748	95604748	+	Silent	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:95604748A>G	ENST00000343958.4	-	2	535	c.312T>C	c.(310-312)gaT>gaC	p.D104D	FGD6_ENST00000549499.1_Silent_p.D104D|FGD6_ENST00000546711.1_Silent_p.D104D	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	104					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGAAATATAATCATTGCTCT	0.393000													43	234					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43918724	43918724	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr13:43918724T>C	ENST00000261488.6	-	9	1563	c.986A>G	c.(985-987)gAg>gGg	p.E329G	ENOX1_ENST00000540032.1_Missense_Mutation_p.E142G|ENOX1_ENST00000412891.1_Missense_Mutation_p.E329G	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	329					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTTGGCTTCCTCCATCTCTTG	0.453000													31	85					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022088	51022088	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:51022088G>A	ENST00000599957.1	-	3	1079	c.882C>T	c.(880-882)caC>caT	p.H294H	LRRC4B_ENST00000389201.3_Silent_p.H294H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	294						cell junction|integral to membrane|presynaptic membrane		p.H294H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGAAGAGGTCGTGGGGCAGCG	0.637000													34	182					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87691007	87691007	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:87691007A>T	ENST00000436978.1	+	29	5070	c.4590A>T	c.(4588-4590)caA>caT	p.Q1530H	PTPN13_ENST00000316707.6_Missense_Mutation_p.Q1334H|PTPN13_ENST00000411767.2_Missense_Mutation_p.Q1525H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Q1506H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q1530H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1525	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACCGGAGCAAATTAATGCCA	0.348000													26	96					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82879476	82879476	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:82879476G>A	ENST00000298281.4	+	8	2551	c.2099G>A	c.(2098-2100)cGa>cAa	p.R700Q		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	700					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.R700L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGGTGTGCGAGAAGAGCAG	0.313000													9	48					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68857305	68857305	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr16:68857305A>T	ENST00000261769.5	+	13	2131	c.1940A>T	c.(1939-1941)cAa>cTa	p.Q647L	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.Q586L	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	647	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCTCCAGCCCAAGAATCTATC	0.403000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				28	82					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287320	62287320	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:62287320C>G	ENST00000378024.4	-	5	14843	c.14569G>C	c.(14569-14571)Gat>Cat	p.D4857H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4857					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCAAATCCAGGTCAACA	0.438000													19	137					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622738	38622738	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:38622738C>T	ENST00000413689.1	-	17	3105	c.2912G>A	c.(2911-2913)cGc>cAc	p.R971H	SCN5A_ENST00000455624.2_Missense_Mutation_p.R971H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R971H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R971H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R971H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R971H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R971H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R971H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R971H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R971H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	971					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)	CTTGACAAAGCGCAGGCCCCT	0.652000													4	12					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13370300	13370300	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:13370300G>A	ENST00000254508.5	-	31	4339	c.4257C>T	c.(4255-4257)caC>caT	p.H1419H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1419					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)					GGACCGAACTGTGAGCATGGA	0.527000													32	47					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112982	248112982	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:248112982G>A	ENST00000357191.3	+	1	823	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGTTCTGGCTGTCTTCTACAC	0.502000													26	151					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89977478	89977478	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:89977478G>T	ENST00000402938.3	-	6	789	c.656C>A	c.(655-657)aCa>aAa	p.T219K	GABRR2_ENST00000602399.1_Missense_Mutation_p.T244K			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	244					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CTTCTCATCTGTTTTTAGGGA	0.418000													23	89					1.36565e-18	1.70322e-18	1	1	0
FRMD3	257019	broad.mit.edu	37	9	86004518	86004518	+	Splice_Site	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr9:86004518C>T	ENST00000304195.3	-	2	459		c.e2+1		FRMD3_ENST00000376438.1_Splice_Site	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3							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						TCAGCTCTTACCCTTTGCTTC	0.502000													17	46					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118804879	118804879	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:118804879T>C	ENST00000368491.3	-	7	2201	c.1580A>G	c.(1579-1581)cAg>cGg	p.Q527R	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q530R	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	527						centrosome											CTGTAGACTCTGACTCTGTAC	0.338000													23	50					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159287	23159287	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:23159287G>A	ENST00000594710.1	-	4	997	c.852C>T	c.(850-852)taC>taT	p.Y284Y		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CTTCACATTTGTAGGGTTTCT	0.428000													14	89					0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71581332	71581332	+	Silent	SNP	G	G	A	rs148723423		TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:71581332G>A	ENST00000276590.4	-	1	60	c.24C>T	c.(22-24)gtC>gtT	p.V8V	LACTB2_ENST00000522447.1_Silent_p.V8V	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	8							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACAGCCGCTCGACGCGCTGCA	0.657000											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	25					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10782172	10782172	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:10782172T>A	ENST00000075503.3	-	6	1073	c.553A>T	c.(553-555)Act>Tct	p.T185S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	185	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						AGCTTTTCAGTGCAGCAGCCT	0.547000										HNSCC(73;0.22)			5	45					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124812012	124812012	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:124812012C>T	ENST00000356219.3	-	46	7302	c.7147G>A	c.(7147-7149)Gct>Act	p.A2383T	NCOR2_ENST00000405201.1_Missense_Mutation_p.A2376T|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1937T|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2366T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2387					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCATAGCAGCGGGCAGGCTG	0.622000													7	45					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124957679	124957679	+	Splice_Site	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:124957679T>C	ENST00000356219.3	-	5	567		c.e5-2		NCOR2_ENST00000405201.1_Splice_Site|NCOR2_ENST00000404621.1_Splice_Site|NCOR2_ENST00000404121.2_Splice_Site|NCOR2_ENST00000397355.1_Splice_Site|NCOR2_ENST00000429285.2_Splice_Site	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2						cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTACGGTCCTGTGGCAGAAA	0.602000													12	34					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85521644	85521644	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:85521644G>C	ENST00000393217.2	+	18	4103	c.4042G>C	c.(4042-4044)Ggt>Cgt	p.G1348R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1348	IQ 2.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATACTGGCGTGGTTACCTCAT	0.383000													31	102					0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110466411	110466411	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:110466411T>A	ENST00000261739.4	+	10	1206	c.1040T>A	c.(1039-1041)aTt>aAt	p.I347N	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	347										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GACAGGGACATTGGAAGGCCG	0.453000													22	112					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1825905	1825905	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:1825905G>C	ENST00000170168.4	-	3	2043	c.1949C>G	c.(1948-1950)tCg>tGg	p.S650W		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	650						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGTCAGACCCGAAAGCCCCTT	0.612000													4	67					0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3595660	3595660	+	Silent	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:3595660C>A	ENST00000589966.1	-	2	703	c.669G>T	c.(667-669)gcG>gcT	p.A223A	TBXA2R_ENST00000411851.3_Intron|TBXA2R_ENST00000375190.4_3'UTR			P21731	TA2R_HUMAN	thromboxane A2 receptor	0					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGCGGAAAGGCGCGGGAGGGG	0.697000													3	2					0.115264	0.116312	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58384279	58384279	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:58384279G>T	ENST00000435989.2	-	3	2713	c.2479C>A	c.(2479-2481)Cct>Act	p.P827T	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	827					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CATTTATAAGGCTTTTCTCCA	0.403000													13	61					5.50884e-06	6.03435e-06	1	1	0
TBX20	57057	broad.mit.edu	37	7	35293170	35293170	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:35293170G>T	ENST00000408931.3	-	1	588	c.62C>A	c.(61-63)gCc>gAc	p.A21D		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	21						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CATGAGCGCGGCAATGGAGAA	0.657000													13	34					1.3612e-06	1.51599e-06	1	1	0
RPL13AP3	645683	broad.mit.edu	37	14	56233164	56233164	+	RNA	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr14:56233164G>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							TACATGCTGCGCCACAAGACC	0.602000													14	18					7.93312e-07	8.89471e-07	1	1	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999863	45999863	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr21:45999863G>A	ENST00000400372.1	-	1	618	c.593C>T	c.(592-594)tCa>tTa	p.S198L	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	198	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.S198*(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGGCAGCATGAAGTGGAAGC	0.632000													70	234					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32162599	32162599	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:32162599G>A	ENST00000373672.3	-	8	1345	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	COL16A1_ENST00000271069.6_Missense_Mutation_p.R277C|COL16A1_ENST00000373668.3_Missense_Mutation_p.R277C	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	277	Nonhelical region 10 (NC10).				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)		CAGAAGCAGCGGGTGTAGACC	0.607000													38	96					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211598	78211598	+	RNA	SNP	C	C	T	rs12908616	by1000genomes	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr15:78211598C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTTTGGCCTCATCTTGTAGC	0.547000													5	102					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807325	143807325	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:143807325A>G	ENST00000408979.2	+	1	719	c.650A>G	c.(649-651)tAc>tGc	p.Y217C		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTGGTCTCCTACATGCACATC	0.532000													43	177					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109254088	109254088	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:109254088T>G	ENST00000220849.5	-	2	207	c.145A>C	c.(145-147)Aac>Cac	p.N49H	EIF3E_ENST00000519030.1_Intron	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	49	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	p.N49Y(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TCTACCATGTTGGTATCACTA	0.303000													25	42					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96306182	96306182	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:96306182C>G	ENST00000348459.5	+	2	185	c.80C>G	c.(79-81)aCc>aGc	p.T27S	HELLS_ENST00000239026.6_Missense_Mutation_p.T27S|HELLS_ENST00000394036.1_Missense_Mutation_p.T27S|HELLS_ENST00000394045.1_Missense_Mutation_p.T27S|HELLS_ENST00000394044.1_Missense_Mutation_p.T27S|HELLS_ENST00000371332.4_Missense_Mutation_p.T27S	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	27					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)		GCTGTGATTACCCCGGCCATG	0.483000													30	94					0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95229827	95229827	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:95229827G>A	ENST00000295256.5	-	4	384	c.294C>T	c.(292-294)ttC>ttT	p.F98F	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	98	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AACATGACATGAAATCATCCA	0.383000													13	145					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6679480	6679480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:6679480G>T	ENST00000245907.6	-	37	4576	c.4484C>A	c.(4483-4485)cCg>cAg	p.P1495Q	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1495					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCCTTTTCCGGATGGTAGAA	0.572000													42	109					2.35958e-20	2.98761e-20	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746451	77746451	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:77746451T>A	ENST00000409088.3	-	3	958	c.544A>T	c.(544-546)Aat>Tat	p.N182Y	LRRTM4_ENST00000409282.1_Missense_Mutation_p.N183Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.N182Y|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N183Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.N182Y	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	182						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAATCAAGATTCCGACAGTCT	0.418000													20	98					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159169596	159169596	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:159169596C>T	ENST00000368125.4	+	8	1165	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.I370I|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	336					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.I370I(3)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGGTGGGATCGTGGCTTTCA	0.557000													13	68					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32417829	32417829	+	Silent	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:32417829T>C	ENST00000265069.8	-	4	591	c.489A>G	c.(487-489)caA>caG	p.Q163Q		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	163	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTGCTGTTGGTTGTTGGTAGT	0.433000													18	278					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155250847	155250847	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:155250847C>A	ENST00000357232.3	-	11	2380	c.2381G>T	c.(2380-2382)tGg>tTg	p.W794L	DCHS2_ENST00000339452.1_Missense_Mutation_p.W1249L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	794	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTGCCACCCAATTGATTAA	0.562000													10	63					0.0692343	0.0700761	1	1	0
PGAP2	27315	broad.mit.edu	37	11	3845502	3845502	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:3845502A>G	ENST00000278243.4	+	5	805	c.604A>G	c.(604-606)Atc>Gtc	p.I202V	PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000463452.2_Missense_Mutation_p.I141V|PGAP2_ENST00000300730.6_Missense_Mutation_p.I198V|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396993.4_Missense_Mutation_p.H94R|PGAP2_ENST00000396986.2_Missense_Mutation_p.I198V|PGAP2_ENST00000396991.2_Missense_Mutation_p.I202V|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000465307.2_Missense_Mutation_p.H144R|PGAP2_ENST00000493547.2_Missense_Mutation_p.I141V	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	202					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCCTCCAGCCATCCACGAAAA	0.562000													28	63					0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145579332	145579332	+	Silent	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:145579332C>A	ENST00000331890.5	-	9	1543	c.1479G>T	c.(1477-1479)gtG>gtT	p.V493V	FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.V487V	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	493					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTGCTGATCACAGAGCTGT	0.657000													6	39					2.0095e-06	2.22313e-06	1	1	0
LRP6	4040	broad.mit.edu	37	12	12274280	12274280	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:12274280T>G	ENST00000261349.4	-	23	4698	c.4622A>C	c.(4621-4623)tAt>tCt	p.Y1541S	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.Y1496S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1541					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACTAGGAGCATAGTCACTGTC	0.522000													23	163					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011410	160011410	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:160011410T>C	ENST00000368089.3	-	2	1139	c.913A>G	c.(913-915)Atc>Gtc	p.I305V	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	305						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCAAAGGATCTCCTCTGGC	0.532000													16	51					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113518984	113518984	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:113518984T>C	ENST00000297405.5	-	29	5075	c.4831A>G	c.(4831-4833)Agc>Ggc	p.S1611G	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1571G|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1507G|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1611G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1611	CUB 9.					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						CAGTCTCTGCTATGCGGATAT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	88					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785755	140785755	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:140785755C>T	ENST00000370515.3	-	2	494	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D									p.R54H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CCTCCTGTAGCGAACCACTAG	0.483000													70	84					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331448	85331448	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:85331448T>C	ENST00000440886.1	-	1	394	c.356A>G	c.(355-357)aAc>aGc	p.N119S	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.N119S			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	119					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AACCAGCAAGTTGGTGAGGGA	0.502000													71	341					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73015432	73015432	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:73015432G>T	ENST00000261180.4	+	15	2537	c.2441G>T	c.(2440-2442)cGt>cTt	p.R814L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	814					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R814H(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						AGAGAACTACGTAGAGAAGTT	0.348000													7	48					1	1	1	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29437776	29437776	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr18:29437776G>C	ENST00000283351.4	-	20	3250	c.2915C>G	c.(2914-2916)cCc>cGc	p.P972R	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P918R	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	972					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						AGAAGCTGAGGGACTTAGTGG	0.423000													23	251					0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38463367	38463367	+	Missense_Mutation	SNP	C	C	A	rs141853329		TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:38463367C>A	ENST00000373016.3	-	5	845	c.677G>T	c.(676-678)cGc>cTc	p.R226L	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	226	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACGATGGGGCGCTTGCAGCT	0.597000													29	86					8.4185e-14	1.01571e-13	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746184	77746184	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:77746184C>A	ENST00000409088.3	-	3	1225	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	LRRTM4_ENST00000409282.1_Missense_Mutation_p.G272C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G271C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G272C|LRRTM4_ENST00000409093.1_Missense_Mutation_p.G271C	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	271						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTAAATGTGCCCGGCTCAATT	0.408000													9	27					1.58986e-06	1.76475e-06	1	1	0
RAD23A	5886	broad.mit.edu	37	19	13063562	13063562	+	Silent	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:13063562G>C	ENST00000586534.1	+	8	934	c.873G>C	c.(871-873)ctG>ctC	p.L291L	RAD23A_ENST00000592268.1_Intron|RAD23A_ENST00000541222.1_Silent_p.L126L|RAD23A_ENST00000316856.3_Silent_p.L290L			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	291					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CTGGGGAGCTGGCGGACATCT	0.602000								Nucleotide excision repair (NER)					16	34					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32760083	32760083	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:32760083A>G	ENST00000362006.5	+	7	1145	c.602A>G	c.(601-603)cAa>cGa	p.Q201R	CCDC7_ENST00000537047.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.Q201R|CCDC7_ENST00000539197.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	201										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AGGCTTGTACAAAGATTTGAA	0.318000													13	22					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144878442	144878442	+	Silent	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:144878442A>G	ENST00000367545.3	+	49	7284	c.7284A>G	c.(7282-7284)aaA>aaG	p.K2428K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2428					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAATCTCAAACAAAGGTAAG	0.418000													12	50					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	845594	845594	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:845594G>A	ENST00000314167.4	-	25	3562	c.3452C>T	c.(3451-3453)tCg>tTg	p.S1151L	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S1072L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1151					cell cycle	focal adhesion|Golgi apparatus|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)		ACTGAAGTTCGAGGCATAGTT	0.662000													25	44					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32828470	32828470	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr22:32828470G>C	ENST00000397452.1	-	11	1149	c.1039C>G	c.(1039-1041)Ccc>Gcc	p.P347A	BPIFC_ENST00000300399.3_Missense_Mutation_p.P347A|BPIFC_ENST00000534972.1_Missense_Mutation_p.P71A|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	347						extracellular region	lipopolysaccharide binding|phospholipid binding										TTGATTATGGGAGGCTCTGTG	0.488000													22	89					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73153056	73153056	+	Silent	SNP	G	G	A	rs150493055		TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:73153056G>A	ENST00000222800.3	-	1	141	c.72C>T	c.(70-72)ctC>ctT	p.L24L	ABHD11_ENST00000437775.2_Silent_p.L24L|ABHD11_ENST00000468998.1_5'UTR|ABHD11_ENST00000458339.1_Silent_p.L24L|ABHD11_ENST00000395147.4_Silent_p.L24L	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	24							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGTGGGGGCCGAGTCCCTCAC	0.721000													6	19					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978302	247978302	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:247978302G>C	ENST00000357627.1	-	1	729	c.730C>G	c.(730-732)Ctg>Gtg	p.L244V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AACACAACCAGCAAGTGTGGA	0.418000													24	68					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33012316	33012316	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr20:33012316C>A	ENST00000374864.4	+	7	719	c.506C>A	c.(505-507)tCc>tAc	p.S169Y	ITCH_ENST00000535650.1_Missense_Mutation_p.S59Y|ITCH_ENST00000262650.6_Missense_Mutation_p.S210Y	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	210					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGCTCCAGATCCAAGGATGAA	0.343000													19	67					0.00121646	0.00127384	1	1	0
PANX3	116337	broad.mit.edu	37	11	124489324	124489324	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:124489324C>T	ENST00000284288.2	+	4	739	c.672C>T	c.(670-672)taC>taT	p.Y224Y		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	224					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCGCCACTTACCTATACCTTG	0.512000													16	53					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99148736	99148736	+	Silent	SNP	G	G	A	rs142413561		TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:99148736G>A	ENST00000401707.2	+	8	1119	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	POP1_ENST00000349693.3_Silent_p.A346A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	346					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			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)			TAAAAGCAGCGTGCCAGTGTG	0.353000													18	254					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47870340	47870340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:47870340G>T	ENST00000328771.4	+	7	2045	c.1696G>T	c.(1696-1698)Gcc>Tcc	p.A566S	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	566						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)		GGACCAGGGGGCCCTGGACAG	0.642000													11	54					0.000978159	0.00103078	1	1	0
PHOSPHO1	162466	broad.mit.edu	37	17	47301767	47301767	+	Silent	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:47301767C>G	ENST00000413580.1	-	3	1137	c.720G>C	c.(718-720)gcG>gcC	p.A240A	PHOSPHO1_ENST00000310544.4_Silent_p.A215A|PHOSPHO1_ENST00000514112.1_Silent_p.A240A	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	215					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	CGTCGCCGCCCGCCAGCAGCC	0.726000													4	5					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559022	210559022	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:210559022G>T	ENST00000360351.4	+	7	2634	c.2128G>T	c.(2128-2130)Gat>Tat	p.D710Y	MAP2_ENST00000447185.1_Missense_Mutation_p.D706Y|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	710					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.D710Y(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GTCTTGCCTAGATTCCATAGC	0.438000													58	234					4.32865e-36	5.67496e-36	1	1	0
WASF2	10163	broad.mit.edu	37	1	27734775	27734775	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:27734775C>T	ENST00000430629.2	-	9	1620	c.1405G>A	c.(1405-1407)Gtg>Atg	p.V469M	WASF2_ENST00000536657.1_3'UTR	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	469					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		ATGGTGGCCACGTCATTGCCC	0.517000													10	89					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94634377	94634377	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:94634377G>C	ENST00000258526.4	+	11	2486	c.2237G>C	c.(2236-2238)gGa>gCa	p.G746A		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	746					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						TCTTCTGTGGGATCCTTATCC	0.423000													40	147					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461939	50461939	+	Missense_Mutation	SNP	G	G	C	rs139706382		TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:50461939G>C	ENST00000447370.2	-	7	1414	c.1324C>G	c.(1324-1326)Ctg>Gtg	p.L442V	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.L442V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	442	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGGGAGCCCAGAGGGTGCTGA	0.662000													23	199					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24624871	24624871	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr14:24624871C>T	ENST00000558468.1	+	6	888	c.888C>T	c.(886-888)caC>caT	p.H296H	RNF31_ENST00000559275.1_Silent_p.H670H|RNF31_ENST00000382687.3_Silent_p.H670H|RNF31_ENST00000324103.6_Silent_p.H821H																							CCCAGTGTCACCAGACCTTCT	0.517000													14	186					0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7585565	7585565	+	Silent	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:7585565C>A	ENST00000597229.1	+	2	1607	c.1437C>A	c.(1435-1437)ctC>ctA	p.L479L	ZNF358_ENST00000394341.2_Silent_p.L479L	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	479					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						ccaaacccctccccggctcca	0.677000													13	16					0.00185496	0.00193032	1	1	0
MRGBP	55257	broad.mit.edu	37	20	61430359	61430359	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr20:61430359G>A	ENST00000370487.3	+	4	456	c.385G>A	c.(385-387)Gag>Aag	p.E129K		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein																		gatgaaagaggagatgaaGGA	0.592000													22	27					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585009	82585009	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:82585009G>C	ENST00000423517.2	-	5	5597	c.5260C>G	c.(5260-5262)Cag>Gag	p.Q1754E	PCLO_ENST00000333891.8_Missense_Mutation_p.Q1754E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1685					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						TTGCGTTGCTGTTTGCTCTCT	0.453000													42	173					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480063	142480063	+	RNA	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:142480063C>A	ENST00000603901.1	+	0	195					NR_001296.3																						GTCACTGCTACAAGCCGTAAG	0.567000													8	54					5.45024e-15	6.62383e-15	1	1	0
MED12	9968	broad.mit.edu	37	X	70344993	70344993	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:70344993C>T	ENST00000333646.6	+	15	2422	c.2223C>T	c.(2221-2223)ccC>ccT	p.P741P	MED12_ENST00000374102.1_Silent_p.P741P|MED12_ENST00000374080.3_Silent_p.P741P	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	741					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCCCATCCCCCAGGTACTAT	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						15	52					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123704	65123704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:65123704C>A	ENST00000309880.5	+	2	632	c.425C>A	c.(424-426)gCg>gAg	p.A142E		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	142					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CATGTTCTTGCGCCTTCATTC	0.617000													35	108					8.16277e-20	1.02962e-19	1	1	0
WDR72	256764	broad.mit.edu	37	15	53994371	53994371	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr15:53994371C>A	ENST00000396328.1	-	12	1768	c.1529G>T	c.(1528-1530)gGt>gTt	p.G510V	WDR72_ENST00000360509.5_Missense_Mutation_p.G510V|WDR72_ENST00000559418.1_Missense_Mutation_p.G520V|WDR72_ENST00000557913.1_Missense_Mutation_p.G507V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	510										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)		TGTTACTGGACCAGCTTCCAA	0.323000													32	115					3.11337e-16	3.81159e-16	1	1	0
BRWD3	254065	broad.mit.edu	37	X	79965005	79965005	+	Silent	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:79965005T>C	ENST00000373275.4	-	21	2613	c.2397A>G	c.(2395-2397)acA>acG	p.T799T	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	799										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGTTGGACCGTGTTTGGTAAG	0.373000													9	29					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50950996	50950996	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:50950996C>T	ENST00000374103.4	-	15	1975	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A	OGDHL_ENST00000419399.1_Silent_p.A573A|OGDHL_ENST00000432695.1_Silent_p.A421A	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	630					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						TGGTCATGTCCGCACGGCCCC	0.657000													4	20					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182947512	182947512	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:182947512G>C	ENST00000328913.3	-	17	2284	c.1987C>G	c.(1987-1989)Cag>Gag	p.Q663E	MCF2L2_ENST00000473233.1_Missense_Mutation_p.Q663E|MCF2L2_ENST00000447025.2_Missense_Mutation_p.Q663E	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	663	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTGTTATTCTGAAGAACATCT	0.343000													10	133					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123028	12123028	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:12123028C>T	ENST00000379388.2	+	4	3332	c.3000C>T	c.(2998-3000)agC>agT	p.S1000S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1000					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTGAGCACAGCCCTGTGCCCG	0.468000													47	284					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962752	34962752	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:34962752A>T	ENST00000329357.5	+	1	1840	c.1804A>T	c.(1804-1806)Aga>Tga	p.R602*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	602										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAAGGGCTACAGAATGCCTGG	0.448000													68	94					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28848097	28848097	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr16:28848097G>A	ENST00000340394.8	+	23	3346	c.3134G>A	c.(3133-3135)tGa>tAa	p.*1045*	ATXN2L_ENST00000336783.4_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.L1055L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Silent_p.L1037L|ATXN2L_ENST00000564304.1_Silent_p.*1069*|ATXN2L_ENST00000570200.1_Silent_p.*1063*|ATXN2L_ENST00000395547.2_3'UTR	NM_148415.2|NM_148416.2	NP_680781.1|NP_680782.1	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	0						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCGGGGAACTGAAGATTGTCC	0.597000													5	98					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25470410	25470410	+	RNA	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr15:25470410C>T	ENST00000453082.2	+	0	1061				SNORD115-30_ENST00000364117.1_RNA	NR_003343.1																						AAATCATGCTCAATAGGATTA	0.498000													35	251					0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	53008945	53008945	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr13:53008945T>C	ENST00000378060.4	-	5	451	c.424A>G	c.(424-426)Aca>Gca	p.T142A		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	142					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		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;3.14e-08)		CCTCTATTTGTTTGTAATGAC	0.333000													49	117					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752467	247752467	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:247752467G>T	ENST00000320065.1	+	1	806	c.806G>T	c.(805-807)aGa>aTa	p.R269I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			GCCAAGAGTAGATCCAGGGAC	0.483000													42	157					7.53189e-24	9.64662e-24	1	1	0
ZC3H3	23144	broad.mit.edu	37	8	144557623	144557623	+	Silent	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:144557623G>C	ENST00000262577.5	-	5	1879	c.1848C>G	c.(1846-1848)ctC>ctG	p.L616L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	616					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.L616L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGTCTTGGAGAGCTTGTTGG	0.672000													17	34					0	0	1	0	0
CKS1B	1163	broad.mit.edu	37	1	154950548	154950548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:154950548C>T	ENST00000368439.1	+	2	346	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	CKS1B_ENST00000308987.5_Nonsense_Mutation_p.Q49*|CKS1B_ENST00000471245.1_3'UTR|CKS1B_ENST00000368436.1_Nonsense_Mutation_p.Q49*			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	49					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-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)			TCTTGGCGTTCAGCAGAGTCA	0.458000													11	47					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479566	4479566	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:4479566G>A	ENST00000237837.1	-	3	844	c.699C>T	c.(697-699)aaC>aaT	p.N233N		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	233					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CAGCGTGCGTGTTCACTCGAC	0.667000													8	73					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113299473	113299473	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:113299473C>T	ENST00000264852.4	+	5	1306	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	SIDT1_ENST00000393830.3_Missense_Mutation_p.P194S	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	194						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						ATACAAGTTTCCCAAAGACGT	0.338000													25	145					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37284483	37284483	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:37284483C>T	ENST00000233099.5	-	15	2295	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D734N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	734							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GATTTATGATCAGTTTCCTGA	0.368000													13	50					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20140036	20140036	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr20:20140036C>A	ENST00000245957.5	+	10	1050	c.974C>A	c.(973-975)gCa>gAa	p.A325E	C20orf26_ENST00000451767.2_Missense_Mutation_p.A325E|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.A325E|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	325										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGAGAAGCTGCATCCGAGGAA	0.483000													45	123					1.6237e-14	1.96615e-14	1	1	0
ACCSL	390110	broad.mit.edu	37	11	44077844	44077844	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:44077844A>T	ENST00000378832.1	+	11	1351	c.1295A>T	c.(1294-1296)cAg>cTg	p.Q432L		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	432							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GGCATCACCCAGCACAAGCTG	0.532000													9	31					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689190	43689190	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:43689190C>G	ENST00000404580.1	-	2	262	c.174G>C	c.(172-174)ttG>ttC	p.L58F	PSG5_ENST00000342951.6_Missense_Mutation_p.L58F|PSG5_ENST00000366175.3_Missense_Mutation_p.L58F|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.L58F|PSG5_ENST00000599812.1_Missense_Mutation_p.L58F|PSG5_ENST00000407568.1_Missense_Mutation_p.L58F			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	58	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GATTCTGAGGCAAATTGTGGA	0.428000													36	574					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169364368	169364368	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:169364368C>G	ENST00000545005.1	-	7	1951	c.1444G>C	c.(1444-1446)Gaa>Caa	p.E482Q	BLZF1_ENST00000329281.2_Intron|CCDC181_ENST00000367805.3_Missense_Mutation_p.E482Q|CCDC181_ENST00000367806.3_Missense_Mutation_p.E483Q					coiled-coil domain containing 181																		CGCTTAGCTTCTAGTCGGAGC	0.383000													15	72					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	270650	270650	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr16:270650C>G	ENST00000337351.4	-	3	376	c.253G>C	c.(253-255)Gat>Cat	p.D85H	LUC7L_ENST00000494366.1_5'UTR|LUC7L_ENST00000397780.1_Missense_Mutation_p.D32H|LUC7L_ENST00000397783.1_Missense_Mutation_p.D85H|LUC7L_ENST00000293872.8_Missense_Mutation_p.D85H	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	85							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				AAACTTACATCTAATTCAAAA	0.338000													16	132					0	0	1	0	0
IFNE	338376	broad.mit.edu	37	9	21481248	21481248	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr9:21481248C>A	ENST00000448696.3	-	1	1064	c.446G>T	c.(445-447)cGa>cTa	p.R149L	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	149					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						ATGGATCCTTCGGAAGTACAT	0.448000													77	135					7.07328e-35	9.23688e-35	1	1	0
DMRTC2	63946	broad.mit.edu	37	19	42351722	42351722	+	Splice_Site	SNP	T	T	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:42351722T>A	ENST00000269945.3	+	2	275		c.e2+2		DMRTC2_ENST00000602098.1_Splice_Site|DMRTC2_ENST00000596827.1_Splice_Site	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCTCATCCTGTGAGTATGAGG	0.602000													74	72					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4907874	4907874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:4907874G>T	ENST00000320785.5	+	12	1310	c.953G>T	c.(952-954)cGc>cTc	p.R318L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	318					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGGAACTCACGCACAGCCATG	0.597000													33	69					7.04047e-22	8.94839e-22	1	1	0
SLC7A10	56301	broad.mit.edu	37	19	33702361	33702361	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:33702361T>C	ENST00000253188.3	-	6	1017	c.871A>G	c.(871-873)Atg>Gtg	p.M291V		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	291					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TGGGGGGACATGGCCGTGAAG	0.632000													5	51					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37602869	37602869	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr22:37602869C>A	ENST00000328544.3	-	2	1507	c.974G>T	c.(973-975)cGc>cTc	p.R325L	SSTR3_ENST00000402501.1_Missense_Mutation_p.R325L	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	325					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CAGGACCCTGCGGAAGCCCTG	0.647000													50	71					2.01872e-29	2.60555e-29	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23522494	23522494	+	Missense_Mutation	SNP	C	C	T	rs112157044	by1000genomes	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:23522494C>T	ENST00000296682.3	+	7	772	c.590C>T	c.(589-591)cCg>cTg	p.P197L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	197					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTCAGCGAGCCGCAGGATGAT	0.448000										HNSCC(3;0.000094)			16	240					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000253	46000253	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr21:46000253G>C	ENST00000400372.1	-	1	228	c.203C>G	c.(202-204)tCc>tGc	p.S68C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	68	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gggcgtgcaggAGCTGGTGCA	0.711000													42	111					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768080	77768080	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:77768080G>T	ENST00000521891.2	+	10	9371	c.8923G>T	c.(8923-8925)Gtg>Ttg	p.V2975L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2930L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2949L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2930L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2930						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGTAGTCCAGGTGTGGTTCCA	0.443000										HNSCC(33;0.089)			20	47					4.63292e-17	5.71394e-17	1	1	0
ST18	9705	broad.mit.edu	37	8	53071594	53071594	+	Missense_Mutation	SNP	C	C	T	rs144331817	by1000genomes	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:53071594C>T	ENST00000276480.7	-	15	2353	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	557						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R557H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAGCTGGCACGGCCAGGGCT	0.522000													39	209					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45553699	45553699	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:45553699G>C	ENST00000359600.5	-	2	1011	c.806C>G	c.(805-807)tCc>tGc	p.S269C		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	269							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AAGGGTTTCGGAGATAGGAAG	0.448000													49	189					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88418411	88418411	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:88418411C>G	ENST00000372071.2	+	5	855	c.628C>G	c.(628-630)Ctg>Gtg	p.L210V	OPN4_ENST00000241891.5_Missense_Mutation_p.L199V	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	199					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCTCTATGCCCTGGCCTGGAG	0.627000													6	55					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294277	124294277	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:124294277C>T	ENST00000356130.3	-	1	512	c.491G>A	c.(490-492)cGa>cAa	p.R164Q		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R164Q(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAAGGTCAGTCGCAGCATGCT	0.537000													7	49					0	0	1	0	0
CTSZ	1522	broad.mit.edu	37	20	57576628	57576628	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr20:57576628C>G	ENST00000217131.5	-	3	497	c.379G>C	c.(379-381)Ggt>Cgt	p.G127R		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	127					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			CCAGCGTTACCGCAGTCGATG	0.597000													33	52					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105615570	105615570	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr14:105615570C>G	ENST00000331782.3	-	13	2093	c.1690G>C	c.(1690-1692)Gat>Cat	p.D564H	JAG2_ENST00000347004.2_Missense_Mutation_p.D526H	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	564	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCAAAGTCATCAGGGCAGGCG	0.667000													25	192					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21588583	21588583	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:21588583G>C	ENST00000392288.2	+	3	287	c.178G>C	c.(178-180)Gat>Cat	p.D60H	ZNF493_ENST00000596302.1_Missense_Mutation_p.D61H|ZNF493_ENST00000594390.1_Missense_Mutation_p.D60H|ZNF493_ENST00000355504.4_Intron|ZNF493_ENST00000339914.6_Missense_Mutation_p.D61H|CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.D41H	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTCTAAGCCAGATCTGGTCAC	0.408000													26	112					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18858220	18858220	+	Splice_Site	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:18858220T>C	ENST00000538330.1	-	4	350		c.e4-2		PLCZ1_ENST00000435379.1_Silent_p.L53L|PLCZ1_ENST00000539875.1_Silent_p.L55L|PLCZ1_ENST00000266505.7_Silent_p.L248L|PLCZ1_ENST00000541695.1_Silent_p.L111L|PLCZ1_ENST00000447925.2_Silent_p.L246L|PLCZ1_ENST00000542762.1_5'UTR			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1						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)					AGTGATTTTCTAAAGAGAGCA	0.368000													38	93					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82337478	82337478	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr9:82337478A>T	ENST00000376520.4	+	19	3023	c.2195A>T	c.(2194-2196)cAt>cTt	p.H732L	TLE4_ENST00000376534.4_Missense_Mutation_p.H337L|TLE4_ENST00000376537.4_Missense_Mutation_p.H732L|TLE4_ENST00000376544.3_Missense_Mutation_p.H631L|TLE4_ENST00000376552.2_Missense_Mutation_p.H700L|TLE4_ENST00000265284.6_Missense_Mutation_p.H675L			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTACATCTTCATGAGAGCTGT	0.493000													17	44					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													3	29					0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140335791	140335791	+	Silent	SNP	T	T	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:140335791T>A	ENST00000358993.2	-	2	191	c.153A>T	c.(151-153)ctA>ctT	p.L51L		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	51						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					AGCGAACCACTAGTATGGTCG	0.507000													29	92					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262965	248262965	+	Silent	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:248262965T>C	ENST00000366478.2	+	3	625	c.288T>C	c.(286-288)tgT>tgC	p.C96C	OR2L13_ENST00000358120.2_Silent_p.C96C	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TCCTGGGATGTGGTGTGCAAA	0.547000													82	304					0	0	1	0	0
BATF3	55509	broad.mit.edu	37	1	212860155	212860155	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:212860155A>G	ENST00000243440.1	-	3	584	c.362T>C	c.(361-363)gTg>gCg	p.V121A	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	121					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		GCAGCCGGCCACAGGGTCCGG	0.597000													15	70					0	0	1	0	0
DCUN1D2	55208	broad.mit.edu	37	13	114134923	114134923	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr13:114134923C>T	ENST00000478244.1	-	3	638	c.356G>A	c.(355-357)aGa>aAa	p.R119K	DCUN1D2_ENST00000375399.2_Missense_Mutation_p.R119K|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000460318.1_5'UTR	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	119	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAATTCCTTTCTGCTAAATTC	0.378000													17	90					0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54682526	54682526	+	Silent	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:54682526C>A	ENST00000245615.1	-	7	1467	c.987G>T	c.(985-987)gcG>gcT	p.A329A	MBOAT7_ENST00000431666.2_Silent_p.A256A|MBOAT7_ENST00000391754.1_Silent_p.A329A|MBOAT7_ENST00000338624.6_Silent_p.A256A	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	329					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGATATACTGCGCCAGCCACC	0.587000													24	42					2.21704e-12	2.63669e-12	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73850047	73850047	+	Silent	SNP	A	A	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:73850047A>C	ENST00000523207.1	+	3	3045	c.2457A>C	c.(2455-2457)ccA>ccC	p.P819P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	819					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TAGAGCTCCCAGGGGCAAGGG	0.512000													36	113					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095433	51095433	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:51095433C>T	ENST00000395542.2	-	12	3790	c.3606G>A	c.(3604-3606)gcG>gcA	p.A1202A	COBL_ENST00000265136.7_Silent_p.A1120A			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1120										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTTCCCTCCCGCAGAGTGGA	0.547000													10	84					0	0	1	0	0
SNAPC3	6619	broad.mit.edu	37	9	15423096	15423096	+	Silent	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr9:15423096G>C	ENST00000380821.3	+	1	395	c.219G>C	c.(217-219)ggG>ggC	p.G73G		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	73					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		CTCTGCCTGGGAGCCAGGCAG	0.731000													2	4					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220780	55220780	+	RNA	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:55220780G>A	ENST00000413439.1	+	0	808																											GATGTGGGACGCGTGAGCCCC	0.602000													6	58					0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128975778	128975778	+	Silent	SNP	T	T	A	rs145877196		TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:128975778T>A	ENST00000357166.6	-	3	535	c.144A>T	c.(142-144)acA>acT	p.T48T	ZDHHC9_ENST00000371064.3_Silent_p.T48T	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	48						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						AGAGTGTACATGTCCCCAGGA	0.502000													5	111					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79093339	79093339	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:79093339C>T	ENST00000326724.4	-	13	3949	c.3925G>A	c.(3925-3927)Gcc>Acc	p.A1309T	AATK_ENST00000417379.1_Missense_Mutation_p.A1206T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1309						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTGCCTTGGCCGTCATCAGC	0.756000													3	10					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31486155	31486155	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr22:31486155C>T	ENST00000333137.7	+	8	1072	c.854C>T	c.(853-855)aCc>aTc	p.T285I	SMTN_ENST00000347557.2_Missense_Mutation_p.T285I|SMTN_ENST00000358743.1_Missense_Mutation_p.T285I	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	285					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCTCTGACACCAAGAGAGCA	0.612000													5	52					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50835767	50835767	+	Silent	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:50835767A>T	ENST00000395562.2	+	8	1270	c.801A>T	c.(799-801)ccA>ccT	p.P267P	CHAT_ENST00000337653.2_Silent_p.P349P|CHAT_ENST00000455728.2_Silent_p.P231P|CHAT_ENST00000339797.1_Silent_p.P231P|CHAT_ENST00000351556.3_Silent_p.P231P|CHAT_ENST00000395559.2_Silent_p.P231P	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	349					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)	GTTTGCCTCCAATTGGCCTGC	0.562000													32	82					0	0	1	0	0
VASP	7408	broad.mit.edu	37	19	46021240	46021240	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:46021240C>T	ENST00000245932.6	+	3	587	c.231C>T	c.(229-231)ccC>ccT	p.P77P	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	77	WH1.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		AGGCCACCCCCAACTTCCATC	0.672000													15	64					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93172873	93172873	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr14:93172873G>A	ENST00000393218.2	-	13	1483	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	LGMN_ENST00000555699.1_Intron|LGMN_ENST00000557434.1_Intron|LGMN_ENST00000334869.4_Silent_p.A382A	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	382					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		AGTGCAGCAGGGCCTCTGGGT	0.617000													39	80					0	0	1	0	0
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000531198.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418000													7	26					5.50884e-06	6.03435e-06	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104948877	104948877	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:104948877G>A	ENST00000507740.1	+	10	2086	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	RIMS2_ENST00000436393.2_Missense_Mutation_p.R603Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R825Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R664Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	887					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAGAATTTCGGGAACGAATG	0.383000										HNSCC(12;0.0054)			83	148					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031446	33031446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:33031446C>T	ENST00000340811.4	-	3	476	c.368G>A	c.(367-369)tGg>tAg	p.W123*	PKP2_ENST00000070846.6_Nonsense_Mutation_p.W123*	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	123					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)					TCCTCTTCCCCAGCGACCTTC	0.488000													82	223					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540652	187540652	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:187540652A>G	ENST00000441802.2	-	10	7297	c.7088T>C	c.(7087-7089)gTt>gCt	p.V2363A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2363	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCACCATCAACTGCCCTCAC	0.483000										HNSCC(5;0.00058)			33	132					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959274	53959274	+	RNA	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:53959274C>T	ENST00000454407.1	+	0	1966							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GACCTTTAGTCGGAAGTCATA	0.413000													21	279					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70314560	70314560	+	Silent	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr13:70314560G>T	ENST00000377844.4	-	8	2527	c.1768C>A	c.(1768-1770)Cgg>Agg	p.R590R	KLHL1_ENST00000545028.1_Silent_p.R397R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	590					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)		ACTGTGCTCCGAGCAATTGAC	0.378000													8	53					1.06961e-07	1.21564e-07	1	1	0
PDE5A	8654	broad.mit.edu	37	4	120549823	120549823	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:120549823C>G	ENST00000354960.3	-	1	323	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	2					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CCGGCCCGCTCCATGGTTGGC	0.667000											OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	49					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118424490	118424490	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:118424490C>A	ENST00000369443.4	-	12	1506	c.1257G>T	c.(1255-1257)agG>agT	p.R419S	GDAP2_ENST00000369442.3_Missense_Mutation_p.R419S	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	419	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CCTTCAAATTCCTCTTGTACC	0.318000													9	36					0.0477658	0.0484939	1	1	0
E2F7	144455	broad.mit.edu	37	12	77424024	77424024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:77424024C>A	ENST00000322886.7	-	10	1706	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*	E2F7_ENST00000416496.2_Nonsense_Mutation_p.E491*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	491					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						ACACAATATTCTGGGTCAACA	0.478000													21	161					2.21704e-12	2.63669e-12	1	1	0
OR3A2	4995	broad.mit.edu	37	17	3181524	3181524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:3181524G>A	ENST00000408891.2	-	1	744	c.706C>T	c.(706-708)Cga>Tga	p.R236*		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	236					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R236*(1)		ovary(1)	1						GAACGGATTCGTAGAACTGCA	0.517000													9	67					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4125494	4125494	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:4125494G>A	ENST00000465828.1	-	7	980	c.695C>T	c.(694-696)gCa>gTa	p.A232V	ECI2_ENST00000380118.3_Missense_Mutation_p.A262V|ECI2_ENST00000413766.2_Missense_Mutation_p.A95V|ECI2_ENST00000380125.2_Missense_Mutation_p.A232V|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.A232V|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000430835.2_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	262	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CCTGTCAGATGCATACACGGC	0.517000													42	121					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90610771	90610771	+	Silent	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr15:90610771G>T	ENST00000268154.4	+	2	653	c.402G>T	c.(400-402)ggG>ggT	p.G134G		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGGACGCAGGGCCAGCAGAAG	0.647000													6	21					0.0215528	0.0219482	1	1	0
CYB5R4	51167	broad.mit.edu	37	6	84649818	84649818	+	Silent	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:84649818A>T	ENST00000369681.4	+	13	1292	c.1152A>T	c.(1150-1152)atA>atT	p.I384I	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	384	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTTTAAAATATCCAAGTTCC	0.318000													23	76					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346779	48346779	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:48346779C>A	ENST00000319856.4	+	1	308	c.287C>A	c.(286-288)aCc>aAc	p.T96N		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTATTGACACCTTTTATTCT	0.473000													9	187					7.45023e-12	8.79761e-12	1	1	0
KNDC1	85442	broad.mit.edu	37	10	135032401	135032401	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:135032401G>T	ENST00000304613.3	+	27	4765	c.4744G>T	c.(4744-4746)Gcg>Tcg	p.A1582S	KNDC1_ENST00000368572.2_Missense_Mutation_p.A1584S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1582	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAAACTTCGCGACAGCCAT	0.567000													30	127					7.01153e-11	8.22127e-11	1	1	0
HTR4	3360	broad.mit.edu	37	5	147929769	147929769	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:147929769G>A	ENST00000360693.3	-	3	221	c.83C>T	c.(82-84)aCg>aTg	p.T28M	HTR4_ENST00000314512.6_Missense_Mutation_p.T28M|HTR4_ENST00000517929.1_Missense_Mutation_p.T28M|HTR4_ENST00000362016.2_Missense_Mutation_p.T28M|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521735.1_Missense_Mutation_p.T28M|HTR4_ENST00000377888.3_Missense_Mutation_p.T28M|HTR4_ENST00000521530.1_Missense_Mutation_p.T28M|HTR4_ENST00000520514.1_Missense_Mutation_p.T28M|HTR4_ENST00000354217.2_Missense_Mutation_p.T28M	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	28					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAGGATAACCGTCGAGAGAAA	0.532000													19	42					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38485975	38485975	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:38485975T>C	ENST00000263409.4	-	17	2605	c.2443A>G	c.(2443-2445)Aca>Gca	p.T815A	LIFR_ENST00000453190.2_Missense_Mutation_p.T815A	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	815	Fibronectin type-III 6.				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)					CCACCATCTGTATAGGCTCGC	0.428000			T	PLAG1	salivary adenoma								18	110					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180045	124180045	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:124180045G>A	ENST00000357821.2	-	1	688	c.618C>T	c.(616-618)aaC>aaT	p.N206N		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		GCACCAAGGTGTTAAACCCCG	0.488000													13	45					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4644954	4644954	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:4644954G>A	ENST00000433935.1	+	3	727	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	ZMYND15_ENST00000573751.2_Missense_Mutation_p.V224M|ZMYND15_ENST00000269289.6_Missense_Mutation_p.V224M|ZMYND15_ENST00000592813.1_Missense_Mutation_p.V224M	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	224							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGATCTGCTAGTGGATGGAGC	0.587000													54	108					0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161574506	161574506	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:161574506C>A	ENST00000320285.4	-	5	748	c.536G>T	c.(535-537)cGg>cTg	p.R179L	AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	179					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CTCCGTGAACCGTGTGCCCTC	0.632000													4	17					1.024e-07	1.16778e-07	1	1	0
FGB	2244	broad.mit.edu	37	4	155487073	155487073	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:155487073C>T	ENST00000302068.4	+	2	291	c.228C>T	c.(226-228)gcC>gcT	p.A76A	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	76			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTCGTCCAGCCAAAGCAGCTG	0.582000													8	90					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39689847	39689847	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:39689847G>A	ENST00000339852.4	+	4	512	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	164	FBA.				protein catabolic process			p.E164Q(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CCTTCTGGCCGAGGGCCTGTG	0.642000													42	51					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400497	85400497	+	Missense_Mutation	SNP	G	G	T	rs114988007	byFrequency	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr15:85400497G>T	ENST00000258888.5	+	6	3301	c.3134G>T	c.(3133-3135)cGg>cTg	p.R1045L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1045					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)			AAGGAGGAGCGGCCAGGGGGA	0.642000													4	41					0.00024832	0.000264187	1	1	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999883	45999883	+	Silent	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr21:45999883G>C	ENST00000400372.1	-	1	598	c.573C>G	c.(571-573)gtC>gtG	p.V191V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	191	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CCCCAGAGCAGACGGGCACAC	0.627000													69	250					0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641387	55641387	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:55641387G>T	ENST00000343870.4	+	1	406	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TATTCTCTTGGGGGCAACTGA	0.443000													59	238					5.19286e-32	6.72849e-32	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38794142	38794142	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:38794142T>C	ENST00000359357.3	+	27	3661	c.3407T>C	c.(3406-3408)aTg>aCg	p.M1136T	DNAH8_ENST00000449981.2_Missense_Mutation_p.M1353T|DNAH8_ENST00000441566.1_Missense_Mutation_p.M1136T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAATTCAAATGGACATGACT	0.308000													36	75					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113578	94113578	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:94113578T>A	ENST00000243673.2	-	4	1180	c.1009A>T	c.(1009-1011)Agc>Tgc	p.S337C	GPR83_ENST00000539203.2_Missense_Mutation_p.S295C	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	337						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGCAGGTGCTGCTCATGGCA	0.522000													50	155					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24491745	24491745	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:24491745G>C	ENST00000264463.4	-	11	2323	c.1816C>G	c.(1816-1818)Cct>Gct	p.P606A	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	606	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGGCCGGCAGGGAGGAGCAGG	0.527000										HNSCC(23;0.051)			18	228					0	0	1	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957953	152957953	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:152957953C>A	ENST00000307122.2	+	2	311	c.247C>A	c.(247-249)Cag>Aag	p.Q83K	SPRR1A_ENST00000368762.1_Missense_Mutation_p.Q83K	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	83					keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCACCAGCCCAGCAGAAGAC	0.592000													21	96					0.000175454	0.000187264	1	1	0
MYOCD	93649	broad.mit.edu	37	17	12656653	12656653	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:12656653G>T	ENST00000425538.1	+	10	2248	c.2048G>T	c.(2047-2049)tGc>tTc	p.C683F	MYOCD_ENST00000343344.4_Missense_Mutation_p.C683F|MYOCD_ENST00000395988.1_Missense_Mutation_p.C587F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	647					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCCAGGTGTGCACTGCACAG	0.542000													25	56					1.03073e-24	1.32523e-24	1	1	0
LIM2	3982	broad.mit.edu	37	19	51885674	51885674	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:51885674G>C	ENST00000221973.3	-	3	491	c.449C>G	c.(448-450)tCa>tGa	p.S150*	LIM2_ENST00000596399.1_Nonsense_Mutation_p.S108*	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	108					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TTACTCACTTGAGGAAAAAAA	0.567000													10	119					0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31587929	31587929	+	Silent	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr21:31587929G>C	ENST00000399899.1	-	1	462	c.315C>G	c.(313-315)acC>acG	p.T105T	CLDN8_ENST00000286809.1_Silent_p.T105T	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	105					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CCGTGCACCTGGTGCATTTCA	0.542000													10	73					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6046752	6046752	+	Splice_Site	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr18:6046752C>A	ENST00000284898.6	-	17	1646	c.1444_splice	c.e17-1	p.V482_splice	L3MBTL4_ENST00000400104.3_Intron|L3MBTL4_ENST00000400105.2_Splice_Site_p.V482_splice|RP11-793A3.2_ENST00000577935.1_RNA|L3MBTL4_ENST00000317931.7_Intron|L3MBTL4_ENST00000535782.1_Intron	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	482					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				gcagcacaagcactgtgaaga	0.323000													6	62					3.59834e-05	3.89041e-05	1	1	0
CDH18	1016	broad.mit.edu	37	5	19839003	19839003	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:19839003G>A	ENST00000507958.1	-	5	1083	c.93C>T	c.(91-93)atC>atT	p.I31I	CDH18_ENST00000274170.4_Silent_p.I31I|CDH18_ENST00000382275.1_Silent_p.I31I|CDH18_ENST00000502796.1_Silent_p.I31I|CDH18_ENST00000506372.1_Silent_p.I31I|CDH18_ENST00000511273.1_Silent_p.I31I			Q13634	CAD18_HUMAN	cadherin 18, type 2	31					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCATCACCTTGATGGAGCTGT	0.428000													6	133					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169853214	169853214	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:169853214G>A	ENST00000263817.6	-	6	532	c.408C>T	c.(406-408)agC>agT	p.S136S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	136	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGATCATTTCGCTCTCGATGT	0.388000													4	14					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190176	58190176	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:58190176A>T	ENST00000318203.5	+	5	1902	c.1205A>T	c.(1204-1206)aAg>aTg	p.K402M		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	402					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTTTTGTAAGACAAGCTAC	0.473000													15	238					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152476160	152476160	+	Silent	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:152476160A>G	ENST00000427231.2	-	73	10879	c.10677T>C	c.(10675-10677)cgT>cgC	p.R3559R	NEB_ENST00000409198.1_Silent_p.R3316R|NEB_ENST00000172853.10_Silent_p.R3316R|NEB_ENST00000603639.1_Silent_p.R3559R|NEB_ENST00000604864.1_Silent_p.R3559R|NEB_ENST00000397345.3_Silent_p.R3559R	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3559					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	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)		TCTTGTACTCACGGTCACTCT	0.493000													11	114					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81637163	81637163	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr15:81637163T>C	ENST00000558726.1	-	13	1600	c.1465A>G	c.(1465-1467)Act>Gct	p.T489A	TMC3_ENST00000359440.5_Missense_Mutation_p.T488A|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	488						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGAGGCTAGTCTTGTTGGCC	0.493000													4	33					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189409	29189409	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:29189409C>T	ENST00000234961.2	+	3	975	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	245					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CAGTGTGCGCCTGCTGTCGGG	0.642000													10	35					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231338156	231338156	+	Splice_Site	SNP	G	G	A	rs150147150	byFrequency	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:231338156G>A	ENST00000264052.5	+	16	1901		c.e16+1		SP100_ENST00000340126.4_Splice_Site|SP100_ENST00000409112.1_Splice_Site	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen						DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|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	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA 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)		GACATGATGGGTAAGGCTACC	0.468000													5	117					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51693469	51693469	+	Silent	SNP	G	G	T	rs78442656	by1000genomes	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:51693469G>T	ENST00000267012.4	-	6	499	c.438C>A	c.(436-438)ctC>ctA	p.L146L	BIN2_ENST00000452142.2_Silent_p.L114L|BIN2_ENST00000604560.1_Silent_p.L119L|BIN2_ENST00000544402.1_Silent_p.L120L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	146	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CATAGTCCACGAGTTTCCGAC	0.488000													39	159					5.43694e-19	6.83207e-19	1	1	0
ABCA2	20	broad.mit.edu	37	9	139913463	139913463	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr9:139913463C>T	ENST00000265662.5	-	12	1761	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Silent_p.P538P|ABCA2_ENST00000371605.3_Silent_p.P537P			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	537					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCAGGGCCGGCGGCAGCTCAT	0.652000													11	73					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224822353	224822353	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:224822353C>G	ENST00000258383.3	+	1	233	c.164C>G	c.(163-165)cCg>cGg	p.P55R		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	55					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)		CGGTGCCCGCCGCCGCCCGTG	0.687000													4	26					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676303	100676303	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:100676303G>T	ENST00000306151.4	+	3	1670	c.1606G>T	c.(1606-1608)Gtt>Ttt	p.V536F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	536	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)					AACAACTCCTGTTGACACCAG	0.493000													222	732					4.1499e-117	5.52767e-117	1	1	0
EZH2	2146	broad.mit.edu	37	7	148544276	148544276	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:148544276T>C	ENST00000320356.2	-	2	236	c.115A>G	c.(115-117)Aag>Gag	p.K39E	EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.K39E|EZH2_ENST00000476773.1_Missense_Mutation_p.K39E|EZH2_ENST00000483967.1_Missense_Mutation_p.K39E|EZH2_ENST00000478654.1_Missense_Mutation_p.K39E|EZH2_ENST00000460911.1_Missense_Mutation_p.K39E|EZH2_ENST00000350995.2_Missense_Mutation_p.K39E	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	39	Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED (By similarity).			K -> N (in Ref. 3; BAG52592).	negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AATTATACCTTTACTTCATCA	0.353000			Mis		DLBCL								48	163					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040304	103040304	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:103040304C>T	ENST00000264260.2	+	4	693	c.104C>T	c.(103-105)tCt>tTt	p.S35F	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	35					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						TGGACATATTCTACAAGGAGT	0.348000													10	38					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173232862	173232862	+	Silent	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:173232862T>C	ENST00000506823.1	+	4	1002	c.345T>C	c.(343-345)aaT>aaC	p.N115N	GALNTL6_ENST00000508122.1_Silent_p.N98N|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	115						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCAGCAACAATATTGCTCTAG	0.408000													49	158					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100904815	100904815	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:100904815C>T	ENST00000548884.1	+	4	880	c.339C>T	c.(337-339)cgC>cgT	p.R113R	NR1H4_ENST00000188403.7_Silent_p.R123R|NR1H4_ENST00000551379.1_Silent_p.R123R|NR1H4_ENST00000392986.3_Silent_p.R113R|NR1H4_ENST00000549996.1_Silent_p.R113R	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	123					bile acid metabolic process|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|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AGAAGCCCCGCATGGGCGCGT	0.527000													14	114					0	0	1	0	0
IL5	3567	broad.mit.edu	37	5	131879031	131879031	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:131879031T>C	ENST00000231454.1	-	1	183	c.140A>G	c.(139-141)aAt>aGt	p.N47S		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	47					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	AATTACCTCATTGGCTATCAG	0.388000													25	55					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50737524	50737524	+	Silent	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:50737524T>C	ENST00000403097.1	-	6	1161	c.381A>G	c.(379-381)tcA>tcG	p.S127S	GRB10_ENST00000398810.2_Silent_p.S75S|GRB10_ENST00000401949.1_Silent_p.S133S|GRB10_ENST00000402578.1_Silent_p.S75S|GRB10_ENST00000335866.3_Silent_p.S75S|GRB10_ENST00000439599.1_Silent_p.S127S|GRB10_ENST00000402497.1_Silent_p.S75S|GRB10_ENST00000407526.1_Silent_p.S75S|GRB10_ENST00000357271.5_Silent_p.S133S|GRB10_ENST00000406641.1_Silent_p.S75S|GRB10_ENST00000398812.2_Silent_p.S133S			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	133					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			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)					CCGGCAGAGATGAGGTTCTAA	0.592000									Russell-Silver syndrome				4	24					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681614	70681614	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr13:70681614G>T	ENST00000377844.4	-	1	977	c.218C>A	c.(217-219)tCc>tAc	p.S73Y	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	73	Ser-rich.				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)		ggaagaggaggaagGCTTCTT	0.587000													13	74					2.27111e-07	2.56366e-07	1	1	0
FOXJ3	22887	broad.mit.edu	37	1	42744124	42744124	+	Silent	SNP	T	T	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:42744124T>C	ENST00000372572.1	-	5	575	c.264A>G	c.(262-264)acA>acG	p.T88T	FOXJ3_ENST00000545068.1_Silent_p.T88T|FOXJ3_ENST00000372573.1_Silent_p.T88T|FOXJ3_ENST00000361776.1_Silent_p.T88T|FOXJ3_ENST00000361346.1_Silent_p.T88T	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	88					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAATTGCAAATGTAATGAGGC	0.398000													33	119					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124066005	124066005	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:124066005G>A	ENST00000360013.3	+	10	1784	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	KALRN_ENST00000460856.1_Missense_Mutation_p.E553K|KALRN_ENST00000240874.3_Missense_Mutation_p.E553K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	553					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|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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						GGACTGGATTGAAAACCATGG	0.483000													55	277					0	0	1	0	0
DAD1	1603	broad.mit.edu	37	14	23057908	23057908	+	Silent	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr14:23057908G>C	ENST00000250498.4	-	1	267	c.156C>G	c.(154-156)ccC>ccG	p.P52P	DAD1_ENST00000543337.1_Intron|DAD1_ENST00000538631.1_Silent_p.P52P	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	52					anti-apoptosis|apoptosis|post-translational protein modification	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		AAGAGTTGAAGGGGAAGGTCC	0.502000													34	110					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474113	145474113	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:145474113C>A	ENST00000323397.4	+	4	2078	c.785C>A	c.(784-786)aCt>aAt	p.T262N		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	262	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCCACCCACTGAAGGGAGA	0.637000													32	110					1.06801e-11	1.25671e-11	1	1	0
INSC	387755	broad.mit.edu	37	11	15243058	15243058	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:15243058C>T	ENST00000379554.3	+	8	1042	c.996C>T	c.(994-996)acC>acT	p.T332T	INSC_ENST00000525218.1_Silent_p.T243T|INSC_ENST00000528567.1_Silent_p.T285T|INSC_ENST00000379556.3_Silent_p.T285T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Silent_p.T285T|INSC_ENST00000424273.1_Silent_p.T243T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	332					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACATCCTGACCGACAACAGCC	0.627000													34	107					0	0	1	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927878	13927878	+	RNA	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:13927878C>T	ENST00000602743.1	-	0	224																											GCTTCAGGAACGGAGGGAGTG	0.552000													14	34					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203397329	203397329	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:203397329G>A	ENST00000374580.4	+	9	1689	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	BMPR2_ENST00000374574.2_Missense_Mutation_p.A384T	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	384	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAGATATATGGCACCAGAAGT	0.373000													11	39					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390872	169390872	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:169390872C>T	ENST00000545005.1	-	4	1304	c.797G>A	c.(796-798)gGc>gAc	p.G266D	CCDC181_ENST00000367805.3_Missense_Mutation_p.G266D|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.G266D					coiled-coil domain containing 181									p.G266D(1)									TTTCTTGGTGCCACTGACAGA	0.468000													45	167					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156746008	156746008	+	Silent	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:156746008A>G	ENST00000470811.1	+	13	1908	c.573A>G	c.(571-573)aaA>aaG	p.K191K	LEKR1_ENST00000356539.4_Silent_p.K495K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	87										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAAAGGAAAAAGAAATTGAAA	0.348000													32	39					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30865369	30865369	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:30865369C>T	ENST00000324771.8	+	17	2759	c.2211C>T	c.(2209-2211)acC>acT	p.T737T	DDR1_ENST00000361741.4_Silent_p.T404T|DDR1_ENST00000376567.2_Silent_p.T700T|DDR1_ENST00000513240.1_Silent_p.T743T|DDR1_ENST00000418800.2_Silent_p.T700T|DDR1_ENST00000508312.1_Silent_p.T718T|DDR1_ENST00000376569.3_Silent_p.T700T|DDR1_ENST00000454612.2_Silent_p.T700T|DDR1_ENST00000376570.4_Silent_p.T700T|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Silent_p.T737T|DDR1_ENST00000376575.3_Silent_p.T743T|DDR1_ENST00000376568.3_Silent_p.T737T			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	737	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGGGGCCCACCATCAGGTACC	0.662000													27	33					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27163008	27163008	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:27163008G>T	ENST00000288699.6	+	9	1215	c.1057G>T	c.(1057-1059)Gac>Tac	p.D353Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.D353Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	353					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCGTGCAGGACCGCATGAG	0.547000													9	139					0.00621372	0.00640609	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158651412	158651412	+	Silent	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:158651412G>A	ENST00000368148.3	-	4	616	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	SPTA1_ENST00000368147.3_Silent_p.L146L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	146					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)					TCCAGGGTCAGCTCTAACAGC	0.542000													40	138					0	0	1	0	0
ZBTB25	7597	broad.mit.edu	37	14	64954403	64954403	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr14:64954403G>C	ENST00000394715.1	-	6	1247	c.546C>G	c.(544-546)gaC>gaG	p.D182E	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000261683.2_Missense_Mutation_p.D182E			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	182						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		CCCTCTGCTGGTCTGCAGTGC	0.572000													163	289					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:7577141C>A	ENST00000420246.2	-	8	929	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517000		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)			11	16					1.08611e-07	1.23018e-07	1	1	0
OPN4	94233	broad.mit.edu	37	10	88418410	88418410	+	Silent	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:88418410C>A	ENST00000372071.2	+	5	854	c.627C>A	c.(625-627)gcC>gcA	p.A209A	OPN4_ENST00000241891.5_Silent_p.A198A	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	198					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCTCTATGCCCTGGCCTGGA	0.627000													6	55					0.00116845	0.00122742	1	1	0
PAM	5066	broad.mit.edu	37	5	102309984	102309984	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:102309984G>T	ENST00000438793.3	+	14	1797	c.1327G>T	c.(1327-1329)Ggt>Tgt	p.G443C	PAM_ENST00000348126.2_Intron|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Missense_Mutation_p.G443C|PAM_ENST00000346918.2_Missense_Mutation_p.G443C|PAM_ENST00000274392.9_Missense_Mutation_p.G346C|PAM_ENST00000304400.7_Missense_Mutation_p.G443C	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	443	Peptidylglycine alpha-hydroxylating monooxygenase (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)	TGCCAGAGAGGGTGCAGAACA	0.433000													16	91					4.14922e-12	4.91704e-12	1	1	0
UPB1	51733	broad.mit.edu	37	22	24896194	24896194	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr22:24896194G>A	ENST00000326010.5	+	2	568	c.224G>A	c.(223-225)gGg>gAg	p.G75E	UPB1_ENST00000382760.2_Missense_Mutation_p.G75E|UPB1_ENST00000413389.2_Intron	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	75	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GTGCACGTGGGGCTGGTTCAG	0.537000													24	81					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045534	7045534	+	Silent	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:7045534G>C	ENST00000356654.4	+	5	1341	c.1104G>C	c.(1102-1104)gcG>gcC	p.A368A	ATN1_ENST00000396684.2_Silent_p.A368A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	368					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTGCTCCAGCGCCCCCCATGA	0.587000													43	141					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115560805	115560805	+	Missense_Mutation	SNP	G	G	A	rs117984283	by1000genomes	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:115560805G>A	ENST00000490035.1	-	6	1305	c.806C>T	c.(805-807)aCg>aTg	p.T269M	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.T266M	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	269	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTGGCCCTCCGTGCTCTTAAT	0.483000													32	92					0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32085284	32085284	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:32085284C>T	ENST00000403528.2	+	4	736	c.351C>T	c.(349-351)gcC>gcT	p.A117A	HCRTR1_ENST00000373705.1_Silent_p.A117A|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373706.5_Silent_p.A117A	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	117					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TCGGCCATGCCCTCTGCAAGG	0.587000													12	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582881	179582881	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:179582881C>A	ENST00000589042.1	-	86	25076	c.24852G>T	c.(24850-24852)caG>caT	p.Q8284H	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q7967H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q7040H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7967	Ig-like 65.						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)			CCACTTTACACTGTAAAGTTG	0.393000													20	58					2.94398e-08	3.36889e-08	1	1	0
MORC1	27136	broad.mit.edu	37	3	108819327	108819327	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:108819327C>G	ENST00000232603.5	-	5	333	c.251G>C	c.(250-252)gGa>gCa	p.G84A	MORC1_ENST00000483760.1_Missense_Mutation_p.G84A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	84					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTGGATCGTCCAAAGTAAAT	0.413000													70	129					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56078920	56078920	+	Silent	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:56078920C>A	ENST00000257879.6	-	25	3551	c.3336G>T	c.(3334-3336)ccG>ccT	p.P1112P	ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000347027.6_Silent_p.P1106P|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Silent_p.P1019P|ITGA7_ENST00000555728.1_Silent_p.P1156P|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000553804.1_Silent_p.P1116P	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1156					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTGTGCATCCGGGCCCTCCC	0.672000													15	29					1.3612e-06	1.51599e-06	1	1	0
DVL2	1856	broad.mit.edu	37	17	7133404	7133404	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr17:7133404G>A	ENST00000005340.5	-	4	763	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	DVL2_ENST00000575458.1_Missense_Mutation_p.R155W|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	161					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GGCCGCTCCCGCCTCAGTGAC	0.637000													12	68					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26508085	26508085	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:26508085G>A	ENST00000376261.3	+	4	903	c.400G>A	c.(400-402)Gat>Aat	p.D134N	GAD2_ENST00000376248.1_Missense_Mutation_p.D20N|GAD2_ENST00000259271.3_Missense_Mutation_p.D134N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	134					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|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)	CAAAGTGATTGATTTCCATTA	0.378000													12	85					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52790006	52790006	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:52790006A>G	ENST00000257974.2	-	7	1156	c.1079T>C	c.(1078-1080)cTt>cCt	p.L360P	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	360	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGCACCCTCAAGTTTGCAGCG	0.632000													13	18					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382675	80382675	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:80382675C>T	ENST00000265080.4	+	9	1360	c.1293C>T	c.(1291-1293)agC>agT	p.S431S	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	431					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATGAAGTCAGCGACACTGAAA	0.468000													19	44					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271299	65271299	+	RNA	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:65271299A>G	ENST00000534336.1	+	0	6067					NR_002819.2																						ATTCTTCATAAAGTGATGAGC	0.373000													6	26					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36335128	36335128	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:36335128G>A	ENST00000378910.5	-	16	2088	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	NPHS1_ENST00000353632.6_Missense_Mutation_p.R697C	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	697					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			GACAGGATGCGATGCCGGGGG	0.672000													26	35					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241669303	241669303	+	Splice_Site	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:241669303C>T	ENST00000366560.3	-	6	942	c.904_splice	c.e6+1	p.G302_splice		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	302					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GATCACTAACCTGTAAGTGCA	0.388000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				18	80					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2580434	2580434	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr16:2580434G>A	ENST00000413459.3	+	11	1528	c.1459G>A	c.(1459-1461)Ggg>Agg	p.G487R	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.P214L|CEMP1_ENST00000382350.1_Missense_Mutation_p.P214L|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000302956.4_3'UTR	NM_001145815.1	NP_001139287.1	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	0					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GCTTCGAGGCGGGTGGGCTTC	0.607000													7	27					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25115798	25115798	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr22:25115798C>T	ENST00000332271.5	-	20	2865	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	PIWIL3_ENST00000527701.1_Missense_Mutation_p.V699I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.V699I|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	817	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCATAGATGACGTTATAATGA	0.383000													21	78					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999656	45999656	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr21:45999656G>T	ENST00000400372.1	-	1	825	c.800C>A	c.(799-801)tCc>tAc	p.S267Y	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	267						keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCCAGGCGGGAGCACGCGGG	0.692000													18	44					8.28177e-16	1.01019e-15	1	1	0
IFT122	55764	broad.mit.edu	37	3	129210994	129210994	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:129210994G>C	ENST00000296266.3	+	18	2348	c.2156G>C	c.(2155-2157)aGa>aCa	p.R719T	IFT122_ENST00000348417.2_Missense_Mutation_p.R668T|IFT122_ENST00000347300.2_Missense_Mutation_p.R609T|IFT122_ENST00000349441.2_Missense_Mutation_p.R557T|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000507564.1_Missense_Mutation_p.R660T|IFT122_ENST00000431818.2_Missense_Mutation_p.R518T|IFT122_ENST00000440957.2_Missense_Mutation_p.R459T	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	668					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCCTTCATCAGAGTACAAGAC	0.423000													23	232					0	0	1	0	0
SLC35A3	23443	broad.mit.edu	37	1	100472621	100472621	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:100472621C>T	ENST00000465289.1	+	4	766	c.374C>T	c.(373-375)gCa>gTa	p.A125V	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Missense_Mutation_p.A125V|SLC35A3_ENST00000370153.1_Missense_Mutation_p.A167V|SLC35A3_ENST00000370155.3_Missense_Mutation_p.A125V	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	125					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CTTACAACAGCATTATTTTCT	0.313000													5	32					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54547391	54547391	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr18:54547391A>G	ENST00000254442.3	+	21	3732	c.3521A>G	c.(3520-3522)cAt>cGt	p.H1174R	WDR7_ENST00000357574.3_Missense_Mutation_p.H1141R|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1174										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)		CTGGCCAGACATACTTGTAAG	0.393000													5	46					0	0	1	0	0
LINC00691	152024	broad.mit.edu	37	3	24138663	24138663	+	RNA	SNP	A	A	G	rs75566695	byFrequency	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:24138663A>G	ENST00000436123.1	-	0	2060																											TTCATAATTCATTGCCTCTGC	0.428000													3	36					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653636	159653636	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:159653636C>T	ENST00000297267.9	+	11	2292	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R635W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	698	Ser-rich.					extracellular region		p.R698W(2)		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)		CTCGCCGGCCCGGAGGACCCC	0.697000													4	31					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130407385	130407385	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:130407385A>T	ENST00000529410.1	+	18	1987	c.1508A>T	c.(1507-1509)cAc>cTc	p.H503L	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.H503L|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.H503L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.H478L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.H478L|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.H478L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	503					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ACAGATGATCACCGGGTAAAA	0.383000													34	320					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161047509	161047509	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:161047509G>C	ENST00000368012.3	-	3	766	c.464C>G	c.(463-465)cCt>cGt	p.P155R		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	155	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCTGGACCAGGATTCAGTGA	0.627000													7	51					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94745756	94745756	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:94745756C>T	ENST00000399300.2	-	3	3096	c.2883G>A	c.(2881-2883)gaG>gaA	p.E961E	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Silent_p.E841E	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	961	RRM 4.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTAAGCCTTGCTCATTATACT	0.363000													27	53					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34568393	34568393	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr20:34568393C>A	ENST00000373973.3	+	4	429	c.256C>A	c.(256-258)Cca>Aca	p.P86T	CNBD2_ENST00000538900.1_Missense_Mutation_p.P86T|CNBD2_ENST00000349339.1_Missense_Mutation_p.P86T					cyclic nucleotide binding domain containing 2																		TCACTTTCCTCCAAAGGCCAT	0.542000													11	132					0.000978159	0.00103078	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185760	127185760	+	Silent	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrX:127185760C>A	ENST00000371124.3	-	1	622	c.426G>T	c.(424-426)gtG>gtT	p.V142V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	142						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGAGCGCTGCCACCGCATGAT	0.532000													72	117					3.31162e-33	4.30769e-33	1	1	0
GALNT7	51809	broad.mit.edu	37	4	174216609	174216609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:174216609C>T	ENST00000265000.4	+	4	900	c.817C>T	c.(817-819)Cga>Tga	p.R273*	GALNT7_ENST00000512285.1_Nonsense_Mutation_p.R273*|GALNT7_ENST00000502407.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	273	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R273*(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GAAGGTATTTCGAAATGAAAG	0.343000													32	85					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105538108	105538108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:105538108G>T	ENST00000332180.5	+	21	2141	c.2054G>T	c.(2053-2055)cGa>cTa	p.R685L		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	685					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAGATCTGCGACTTTCTGTG	0.338000													13	103					0.00185496	0.00193032	1	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095089	69095089	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:69095089C>T	ENST00000332644.5	-	8	993	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	278	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GAAACTTCTTCAGCAAGCTGC	0.368000													20	43					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073493	134073493	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:134073493T>A	ENST00000264360.4	+	1	3024	c.2198T>A	c.(2197-2199)aTg>aAg	p.M733K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	733					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGCTGGCCATGATCGTGCTG	0.602000													20	110					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58915180	58915180	+	Silent	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr14:58915180A>G	ENST00000423743.3	+	8	1056	c.798A>G	c.(796-798)ccA>ccG	p.P266P	KIAA0586_ENST00000556134.1_Silent_p.P295P|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.P363P|KIAA0586_ENST00000261244.5_Silent_p.P310P	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	310										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTGTAATCCATCTTTATATA	0.363000													35	85					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344850	20344850	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr14:20344850G>T	ENST00000298642.2	+	1	460	c.424G>T	c.(424-426)Gtt>Ttt	p.V142F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGGTGTGTGTTGCTCTCGT	0.463000													130	193					3.25069e-62	4.27858e-62	1	1	0
GP6	51206	broad.mit.edu	37	19	55538972	55538972	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr19:55538972C>T	ENST00000310373.3	-	4	611	c.584G>A	c.(583-585)aGc>aAc	p.S195N	GP6_ENST00000417454.1_Missense_Mutation_p.S195N|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.S195N|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	195	Ig-like C2-type 2.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CAGGGGGTCGCTGGGGGCTGA	0.592000													29	151					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74207496	74207496	+	Silent	SNP	A	A	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:74207496A>G	ENST00000498286.1	+	11	2071	c.1794A>G	c.(1792-1794)gaA>gaG	p.E598E	MTO1_ENST00000370300.4_Silent_p.E623E|MTO1_ENST00000415954.2_Silent_p.E638E|MTO1_ENST00000370305.1_Silent_p.E549E			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	623					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AACTACAAGAAATAAAGGGAG	0.363000													21	39					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138649216	138649216	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr9:138649216G>A	ENST00000298480.5	+	9	822	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	KCNT1_ENST00000371757.2_Missense_Mutation_p.E250K|KCNT1_ENST00000491806.2_Missense_Mutation_p.E217K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E231K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E231K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E202K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E211K|KCNT1_ENST00000263604.3_Missense_Mutation_p.E231K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	250						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)		GCACGCGCTGGAAAACATGAT	0.652000													25	36					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284789	223284789	+	Silent	SNP	T	T	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:223284789T>G	ENST00000540964.1	-	4	2046	c.1585A>C	c.(1585-1587)Agg>Cgg	p.R529R	TLR5_ENST00000342210.6_Silent_p.R529R			O60602	TLR5_HUMAN	toll-like receptor 5	529			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTTAGTCCCCTTAATGCAGTC	0.418000													21	139					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73785497	73785497	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:73785497C>G	ENST00000334126.7	-	24	4978	c.4752G>C	c.(4750-4752)caG>caC	p.Q1584H	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q1584H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1584						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTCTGGGGAGCTGCTCAGACT	0.572000													10	47					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246983	89246983	+	RNA	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:89246983C>A	ENST00000496168.1	-	0	367																											GGGGCTTTCCCTGGTTTCTGC	0.522000													45	146					9.85913e-13	1.18097e-12	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20644043	20644043	+	RNA	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr15:20644043C>T	ENST00000428453.1	-	0	3416																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTCAGGGTTCTCGGAATCAG	0.602000													6	97					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937451	33937451	+	Silent	SNP	C	C	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr5:33937451C>T	ENST00000330120.3	+	1	961	c.606C>T	c.(604-606)tgC>tgT	p.C202C		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	202						integral to plasma membrane	N-formyl peptide receptor activity	p.C202C(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCGACTGCTGCGGCCGGAGCC	0.667000													10	82					0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105642539	105642539	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr10:105642539G>A	ENST00000224950.3	-	10	1177	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.P337L	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	337					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GCTCAGGCCCGGGCGGATGCT	0.572000													7	51					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66217256	66217256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr4:66217256C>A	ENST00000273854.3	-	14	2959	c.2359G>T	c.(2359-2361)Gga>Tga	p.G787*	EPHA5_ENST00000432638.2_Nonsense_Mutation_p.G624*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.G788*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.G765*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	787	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TACTTCATTCCTGCAGAGATA	0.418000										TSP Lung(17;0.13)			32	53					7.65355e-07	8.61025e-07	1	1	0
CEP85L	387119	broad.mit.edu	37	6	118801677	118801677	+	Splice_Site	SNP	C	C	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:118801677C>G	ENST00000368491.3	-	9	2367		c.e9-1		CEP85L_ENST00000368488.5_Splice_Site	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like							centrosome											TTGTTGCAAACTATTTCAAAA	0.289000													23	48					0	0	1	0	0
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr1:745371delA	ENST00000447500.1	-	0	95																											TTTATTTCATAAGATAGCATT	0.299													5	7	---	---	---	---					
PKP4	8502	broad.mit.edu	37	2	159499036	159499047	+	In_Frame_Del	DEL	TCTGGACCACAG	TCTGGACCACAG	-			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:159499036_159499047delTCTGGACCACAG	ENST00000389757.3	+	11	1859_1870	c.1734_1745delTCTGGACCACAG	c.(1732-1746)cta>ct	p.LLDHR578del	PKP4_ENST00000389759.3_In_Frame_Del_p.LLDHR578del	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	578					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGGTTGACCTTCTGGACCACAGAGTTTTGGAA	0.410										HNSCC(62;0.18)			12	89	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179593024	179593024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:179593024delG	ENST00000589042.1	-	67	19751	c.19527delC	c.(19525-19527)ccfs	p.P6509fs	TTN_ENST00000342992.6_Frame_Shift_Del_p.P5265fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.P6192fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6192	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)			GAGCACTAATGGGAAGTGAAC	0.373													12	29	---	---	---	---					
ESPNL	339768	broad.mit.edu	37	2	239016577	239016577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr2:239016577delC	ENST00000343063.3	+	4	1081	c.818delC	c.(817-819)acfs	p.T273fs	ESPNL_ENST00000409169.1_Frame_Shift_Del_p.T273fs	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	273										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGGGTGGGACCCCCCTCCAC	0.652													7	24	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr3:184039744_184039746delGAA	ENST00000342981.4	+	9	1786_1788	c.1372_1374delGAA	c.(1372-1374)del	p.E465del	EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				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)			GGAGGAAATGgaagaagaagaag	0.562													7	200	---	---	---	---					
BTN2A1	11120	broad.mit.edu	37	6	26468488	26468488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr6:26468488delG	ENST00000312541.5	+	8	1543	c.1295delG	c.(1294-1296)cgfs	p.R432fs	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Frame_Shift_Del_p.R371fs|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	432	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GGGCAATACCGGGCCGTGTCC	0.542													36	117	---	---	---	---					
HOXA5	3202	broad.mit.edu	37	7	27182792	27182793	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr7:27182792_27182793insG	ENST00000222726.3	-	1	494_495	c.434_435insC	c.(433-435)agcfs	p.S145fs	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	145					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTCCGGACGCCGTGCCAACCCC	0.718													17	83	---	---	---	---					
LOC101929066	101929066	broad.mit.edu	37	8	17946615	17946615	+	RNA	DEL	T	T	-			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:17946615delT	ENST00000499554.2	+	0	483				CTD-2547L16.1_ENST00000521775.1_RNA																							AACATGTCTGTTTTTTTAAAG	0.363													14	46	---	---	---	---					
RUNX1T1	862	broad.mit.edu	37	8	92988179	92988180	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr8:92988179_92988180insT	ENST00000523629.1	-	10	1755_1756	c.1301_1302insA	c.(1300-1302)cagfs	p.Q434fs	RUNX1T1_ENST00000520724.1_Frame_Shift_Ins_p.Q397fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Ins_p.Q407fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Ins_p.Q397fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Ins_p.Q445fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Ins_p.Q407fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Ins_p.Q397fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Ins_p.Q434fs|GS1-5L10.1_ENST00000522980.1_RNA	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	434					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			ACGCAGGCCTGTGAAGGAATTC	0.490													52	207	---	---	---	---					
MUS81	80198	broad.mit.edu	37	11	65631160	65631160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:65631160delG	ENST00000308110.4	+	9	1278	c.929delG	c.(928-930)tgfs	p.W310fs	MUS81_ENST00000533035.1_Frame_Shift_Del_p.W235fs	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	310	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GATTTTGTGTGGGTGGCCCAG	0.662								Homologous recombination					14	53	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													5	9	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			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)		CTGGTTGTGGCTTGTTTCCATT	0.505													8	302	---	---	---	---					
TGM1	7051	broad.mit.edu	37	14	24718609	24718610	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr14:24718609_24718610insG	ENST00000206765.6	-	15	2486_2487	c.2363_2364insC	c.(2362-2364)cgcfs	p.R788fs	TGM1_ENST00000544573.1_Frame_Shift_Ins_p.R346fs	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	788					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)	CCCCAGGGGCTGGGGCCACATC	0.629													32	85	---	---	---	---					
FEM1B	10116	broad.mit.edu	37	15	68582664	68582665	+	In_Frame_Ins	INS	-	-	TCA			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr15:68582664_68582665insTCA	ENST00000306917.4	+	2	1583_1584	c.968_969insTCA	c.(967-969)gct>gTCAct	p.323_323A>VT		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	323					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GACAGAGATGCTCTTCATATGG	0.421													33	112	---	---	---	---					
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)tcfs	p.F144fs	BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542													7	575	---	---	---	---					
COL6A2	1292	broad.mit.edu	37	21	47538942	47538943	+	Splice_Site	INS	-	-	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr21:47538942_47538943insG	ENST00000300527.4	+	14	1283		c.e14-1		COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site|COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTCCTTCTTCAGGGGTATCAAG	0.644													12	25	---	---	---	---					
EWSR1	2130	broad.mit.edu	37	22	29694812	29694813	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chr22:29694812_29694813insG	ENST00000397938.2	+	14	1826_1827	c.1507_1508insG	c.(1507-1509)gggfs	p.G503fs	EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.G502fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.G430fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.G447fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.G465fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.G508fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	503	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	p.R503Q(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAGAGGACCCCGGGGTTCCCGA	0.604			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								16	194	---	---	---	---					
UTY	7404	broad.mit.edu	37	Y	15363031	15363031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8614-01A-11D-2393-08	TCGA-55-8614-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13c76fbd-8c92-42d6-9e33-61eea0723d18	79f016df-8ac4-48fb-93eb-777403f6182c	g.chrY:15363031delT	ENST00000331397.4	-	27	4890	c.3883delA	c.(3883-3885)gcfs	p.S1295fs	UTY_ENST00000382896.4_Frame_Shift_Del_p.S1340fs|UTY_ENST00000537580.1_Intron	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1295					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						TGAGTATTGCTTTCATTAGTG	0.308													10	17	---	---	---	---