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
GZMK	3003	broad.mit.edu	37	5	54329647	54329647	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:54329647G>A	ENST00000231009.2	+	5	758	c.688G>A	c.(688-690)Gga>Aga	p.G230R	CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	230	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TATAGTCTCTGGAGGTCATGA	0.488000													18	33					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152432	66152432	+	RNA	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:66152432C>A	ENST00000489520.2	-	0	511					NR_026825.2																						CCGTGGCTCCCAGTAGGCTGC	0.547000													7	18					0.000274275	0.000274928	1	1	0
C10orf120	399814	broad.mit.edu	37	10	124459229	124459229	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:124459229C>T	ENST00000329446.4	-	1	109	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	26										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCTTTTCATTCTTCCTTTCTT	0.448000													22	43					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059844	9059844	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9059844G>T	ENST00000397910.4	-	3	27805	c.27602C>A	c.(27601-27603)cCa>cAa	p.P9201Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9203	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCAAATTTGGGGGTGAACT	0.488000													46	67					2.67592e-24	2.72246e-24	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44670039	44670039	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:44670039G>A	ENST00000454036.1	+	8	1071	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G309E	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	332					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTTGGGAAGGAAATGAGACG	0.552000													19	50					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021485	132021485	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:132021485G>A	ENST00000356920.5	+	15	2551	c.2457G>A	c.(2455-2457)atG>atA	p.M819I	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	819	Actin-like.						ATP binding										GCGAGAAGATGACCCAGATCA	0.617000													65	142					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565236	58565236	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58565236G>A	ENST00000282326.1	+	6	1291	c.1044G>A	c.(1042-1044)agG>agA	p.R348R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	348					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCCACCGAGGAAGAAAGCCC	0.667000													6	35					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701142	50701142	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:50701142G>A	ENST00000361387.2	-	9	1952	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.S412F	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCCCCACGGAGACCAGGGT	0.597000													21	35					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164375	150164375	+	Missense_Mutation	SNP	G	G	A	rs147231393		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150164375G>A	ENST00000307271.3	+	2	1163	c.589G>A	c.(589-591)Gga>Aga	p.G197R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	197						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAATACGAACGGAGGACCCTA	0.423000													32	105					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295638	20295638	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20295638G>A	ENST00000568211.1	+	1	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	OR4N2_ENST00000315947.1_Missense_Mutation_p.E11K			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATAAGAGAATTCATCCT	0.388000													50	143					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18049228	18049228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:18049228G>T	ENST00000205890.5	+	30	6654	c.6316G>T	c.(6316-6318)Gag>Tag	p.E2106*		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2106	MyTH4 1.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGTGCCCGGGAGAACATCTT	0.602000													19	23					4.26978e-12	4.31485e-12	1	1	0
POU6F1	5463	broad.mit.edu	37	12	51585513	51585513	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:51585513G>A	ENST00000389243.4	-	10	1365	c.426C>T	c.(424-426)atC>atT	p.I142I	POU6F1_ENST00000333640.10_Silent_p.I142I|POU6F1_ENST00000550824.1_Silent_p.I142I			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	142	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CTTCTAAGTTGATCCCATCCT	0.552000													67	94					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077510	9077510	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9077510G>A	ENST00000397910.4	-	3	10139	c.9936C>T	c.(9934-9936)tcC>tcT	p.S3312S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3313	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						GGGAGACAGAGGACATTGTGG	0.522000													22	54					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504034	117504034	+	Silent	SNP	C	C	T	rs147606477	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:117504034C>T	ENST00000393203.2	+	5	1530	c.1383C>T	c.(1381-1383)agC>agT	p.S461S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	461	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGGTGACCAGCGAGCTGCTTG	0.547000													27	61					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100403206	100403206	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100403206G>A	ENST00000358173.3	-	15	3063	c.2595C>T	c.(2593-2595)ccC>ccT	p.P865P	EPHB4_ENST00000360620.3_Silent_p.P865P	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	865	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGGAAGCGGGGCCGGGCAT	0.647000													58	92					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657798	20657798	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:20657798G>A	ENST00000428453.1	-	0	2160																				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						GTTTGCAGGGGAACCGGCTGG	0.512000													9	31					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925374	67925374	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:67925374C>T	ENST00000304363.4	-	11	2792	c.2439G>A	c.(2437-2439)atG>atA	p.M813I		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CATCCACCTCCATTCGAGACT	0.453000													47	86					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990161	89990161	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:89990161G>A	ENST00000405460.2	+	33	7684	c.7588G>A	c.(7588-7590)Gat>Aat	p.D2530N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2530	Calx-beta 17.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTTCCTGATGATTTCCCAGA	0.453000													23	42					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053639	142053639	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:142053639G>A	ENST00000306799.3	-	1	977	c.324C>T	c.(322-324)ttC>ttT	p.F108F	RNF150_ENST00000507500.1_Silent_p.F108F|RNF150_ENST00000515673.1_Silent_p.F108F|RNF150_ENST00000420921.2_Intron	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	108	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCGGGGCGGCGAACTTGGTGT	0.672000													6	8					0	0	1	0	0
CDKL3	51265	broad.mit.edu	37	5	133657530	133657530	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:133657530G>A	ENST00000521118.1	-	5	718	c.604C>T	c.(604-606)Cct>Tct	p.P202S	CDKL3_ENST00000536186.1_5'UTR|CDKL3_ENST00000523054.1_Missense_Mutation_p.P13S|CDKL3_ENST00000435240.2_5'UTR|CDKL3_ENST00000523832.1_Missense_Mutation_p.P202S|CDKL3_ENST00000521755.1_Missense_Mutation_p.P13S|CDKL3_ENST00000435211.1_Missense_Mutation_p.P202S|CDKL3_ENST00000265334.4_Missense_Mutation_p.P202S|CDKL3_ENST00000518409.1_5'UTR			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	202	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAACTACTAGGAAGATAGGGA	0.358000													19	19					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9013827	9013827	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:9013827C>T	ENST00000299698.7	+	28	3616	c.3436C>T	c.(3436-3438)Ctg>Ttg	p.L1146L	A2ML1_ENST00000539547.1_Silent_p.L655L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	990						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATTTTCTCCCTGGCTGGGGA	0.473000													44	95					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50070776	50070776	+	Silent	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:50070776T>A	ENST00000046087.2	-	5	687	c.618A>T	c.(616-618)tcA>tcT	p.S206S	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.S205S	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	206					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AAATTTCACATGAAAGGTCAA	0.353000													32	35					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148620262	148620262	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:148620262C>T	ENST00000506113.1	+	13	1710	c.1228C>T	c.(1228-1230)Cca>Tca	p.P410S	ABLIM3_ENST00000508983.1_Intron|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.P410S|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	410					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGAGCTCTCCATACCATAG	0.562000													33	68					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138183346	138183346	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:138183346G>A	ENST00000389567.4	+	9	1261	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	359	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CACCTGGAACGAAGTGTTTGA	0.582000													18	47					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719087	13719087	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13719087G>A	ENST00000265104.4	-	72	12507	c.12403C>T	c.(12403-12405)Cat>Tat	p.H4135Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4135	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTGCTTATGAGCCTCGGTG	0.468000									Kartagener syndrome				28	53					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42338659	42338659	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:42338659C>T	ENST00000217026.4	+	10	1689	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	MYBL2_ENST00000396863.4_Missense_Mutation_p.P497L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	521						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACGCCAACCCCGTTCAAGAAC	0.597000													85	165					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21529786	21529786	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:21529786C>T	ENST00000313654.9	+	71	9650	c.9409C>T	c.(9409-9411)Ccc>Tcc	p.P3137S	LAMA3_ENST00000269217.6_Missense_Mutation_p.P1528S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.P1472S|LAMA3_ENST00000399516.3_Missense_Mutation_p.P3081S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3137	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGATTCAAAACCCTTGTATAC	0.473000													11	33					0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60503872	60503872	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:60503872G>A	ENST00000311506.5	+	3	451	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	139							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AATAATGGAAGAACAGCACAA	0.388000													12	23					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148906	103148906	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:103148906G>A	ENST00000295269.4	+	12	2613	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	719					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.G719E(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTACACAGAGGAAGGAAGGCA	0.478000													11	23					0	0	1	0	0
SSMEM1	136263	broad.mit.edu	37	7	129856227	129856227	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:129856227C>T	ENST00000297819.3	+	3	703	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		CCGACAGAAGCCTTCAGTAAC	0.428000													67	278					0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208632225	208632225	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:208632225C>T	ENST00000295417.3	-	2	1792	c.1239G>A	c.(1237-1239)ctG>ctA	p.L413L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	413					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCGTGCCCACCAGCAGGTAGA	0.662000													11	19					0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27690693	27690693	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:27690693T>G	ENST00000282344.6	-	2	345	c.89A>C	c.(88-90)gAa>gCa	p.E30A		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	30					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CGGAAACTGTTCTGGACCAAT	0.358000													16	32					0	0	1	0	0
CRH	1392	broad.mit.edu	37	8	67089128	67089128	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:67089128C>T	ENST00000276571.3	-	2	1031	c.585G>A	c.(583-585)ggG>ggA	p.G195G		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	195					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CGTTTTATTTCCCAATAATCT	0.433000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	13					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100466372	100466372	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100466372G>A	ENST00000200457.4	+	4	979	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	207					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGCCGAGGTGAAGTCTGGGG	0.697000													5	5					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125329866	125329866	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:125329866C>T	ENST00000304865.2	-	1	972	c.891G>A	c.(889-891)ctG>ctA	p.L297L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCCCTGTTTCAGGTCTTTGT	0.453000													36	71					0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11789354	11789354	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:11789354C>T	ENST00000379215.4	+	2	388	c.177C>T	c.(175-177)atC>atT	p.I59I	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	59						mitochondrion	catalytic activity	p.I59I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ACAGGAACATCGTCTTGAGCA	0.443000													18	35					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666537	117666537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:117666537G>A	ENST00000223795.2	-	4	492	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	127					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCCCATCCTGATATCTGACT	0.383000													39	72					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130117739	130117739	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:130117739C>T	ENST00000373387.4	+	20	2275	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Silent_p.F641F|GARNL3_ENST00000435213.2_Silent_p.F619F	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	641	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTGAAGAATTCCAGTACATCA	0.453000													114	228					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31311936	31311936	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:31311936G>A	ENST00000269197.5	+	9	884	c.884G>A	c.(883-885)gGa>gAa	p.G295E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCTAGATGGGAAGTGATGGA	0.403000													23	67					0	0	1	0	0
PRRG2	5639	broad.mit.edu	37	19	50086495	50086495	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50086495C>T	ENST00000246794.5	+	2	188	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	7						extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CCACCCCTCTCTGCTGCTGCT	0.522000													15	16					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107006984	107006984	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:107006984C>T	ENST00000369701.3	+	22	3227	c.3000C>T	c.(2998-3000)ttC>ttT	p.F1000F	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1000						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGAATATTTCCAGTCCCAGC	0.468000													7	35					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656920	8656920	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8656920G>A	ENST00000270328.4	-	13	1921	c.1655C>T	c.(1654-1656)cCg>cTg	p.P552L	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P552L|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R43C			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	552	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGGAGTCCACGGCCCCCAGGC	0.682000													13	19					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5274318	5274318	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:5274318G>A	ENST00000372412.4	-	3	362	c.129C>T	c.(127-129)atC>atT	p.I43I	PTPRS_ENST00000357368.4_Silent_p.I43I|PTPRS_ENST00000588012.1_Silent_p.I43I|PTPRS_ENST00000592099.1_Silent_p.I43I|PTPRS_ENST00000353284.2_Silent_p.I43I|PTPRS_ENST00000262963.6_Silent_p.I43I|PTPRS_ENST00000590509.1_Silent_p.I43I|PTPRS_ENST00000348075.2_Silent_p.I43I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.I43I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	43	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCGACACGCCGATCTGGTCCT	0.592000													7	18					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142195337	142195337	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:142195337C>G	ENST00000519811.1	+	18	3114	c.3044C>G	c.(3043-3045)aCc>aGc	p.T1015S	DENND3_ENST00000262585.2_Missense_Mutation_p.T935S|DENND3_ENST00000424248.1_Missense_Mutation_p.T883S			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	935										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTTCATGGACCATCCACCAG	0.498000													73	29					0	0	1	0	0
BCL2L15	440603	broad.mit.edu	37	1	114424588	114424588	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:114424588G>A	ENST00000393316.3	-	3	452	c.281C>T	c.(280-282)tCt>tTt	p.S94F	BCL2L15_ENST00000488450.1_5'UTR|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	94					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCTGAGAGATTCCACAGT	0.473000													7	20					0	0	1	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162336	142162336	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142162336C>T	ENST00000390371.3	-	0	71																											AGAGGAAAGGCTGCACAGCAC	0.577000													12	69					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138670542	138670542	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:138670542G>A	ENST00000298480.5	+	23	2677	c.2603G>A	c.(2602-2604)aGc>aAc	p.S868N	KCNT1_ENST00000263604.3_Missense_Mutation_p.S849N|KCNT1_ENST00000491806.2_Missense_Mutation_p.S835N|KCNT1_ENST00000490355.2_Missense_Mutation_p.S847N|KCNT1_ENST00000488444.2_Missense_Mutation_p.S849N|KCNT1_ENST00000487664.1_Missense_Mutation_p.S823N|KCNT1_ENST00000371757.2_Missense_Mutation_p.S868N|KCNT1_ENST00000486577.2_Missense_Mutation_p.S827N			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	868						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)		AGCCTGGACAGCCTGCTGCAG	0.652000													31	52					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228461	17228461	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:17228461C>T	ENST00000261381.6	-	9	1980	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	632					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTAGACATTCTCCCAGTAGG	0.582000													32	66					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858202	9858202	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:9858202G>A	ENST00000396573.2	-	14	3508	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1067W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R910W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1067W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1067					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1067W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACGTGGCCCGATTTGACGTT	0.498000													62	24					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400835	89400835	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:89400835C>T	ENST00000439576.2	+	12	5393	c.5019C>T	c.(5017-5019)tcC>tcT	p.S1673S	ACAN_ENST00000561243.1_Silent_p.S1673S|ACAN_ENST00000352105.7_Silent_p.S1673S|ACAN_ENST00000559004.1_Silent_p.S1673S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1673					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCACAGCCTCCACTGCAAGTG	0.537000													56	105					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883186	48883186	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:48883186C>T	ENST00000262105.2	+	11	1759	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.S517F	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	517	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACCAGCAAGTCCCAGCTGCTG	0.557000													15	76					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54776409	54776409	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:54776409G>A	ENST00000218436.6	-	13	3890	c.3861C>T	c.(3859-3861)ccC>ccT	p.P1287P		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1287					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AAGCCCAGCGGGGCAGCAGCC	0.582000													10	7					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76243179	76243179	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:76243179C>T	ENST00000298832.9	+	23	2578	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	TTLL5_ENST00000557636.1_Silent_p.F805F|TTLL5_ENST00000556893.1_Silent_p.F342F|TTLL5_ENST00000554510.1_Silent_p.F300F|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	791					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCAGGAGTTCATCAGACAAG	0.388000													29	51					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152195	45152195	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:45152195G>A	ENST00000296129.1	-	4	928	c.794C>T	c.(793-795)tCc>tTc	p.S265F	CDCP1_ENST00000425231.2_Missense_Mutation_p.S265F	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	265						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTTGAGGAAGGAGACGCTGGC	0.572000													33	66					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45317449	45317449	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:45317449C>T	ENST00000391955.1	+	7	869	c.825C>T	c.(823-825)tcC>tcT	p.S275S	BCAM_ENST00000270233.6_Silent_p.S275S			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	275	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCAGCCCGTCCACCCCAGCAG	0.637000													58	48					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128624170	128624170	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:128624170C>T	ENST00000371122.4	-	15	1945		c.e15-1		SMARCA1_ENST00000371123.1_Splice_Site|SMARCA1_ENST00000371121.3_Splice_Site	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1						ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTGCTCGATCCTAGTAGAAAG	0.333000													14	10					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904360	5904360	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:5904360C>T	ENST00000378961.4	+	4	1774	c.1570C>T	c.(1570-1572)Cca>Tca	p.P524S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	524						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACTGTTCAACCCATACTACGA	0.438000													19	39					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105577343	105577343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:105577343G>A	ENST00000314641.5	-	3	478	c.262C>T	c.(262-264)Cga>Tga	p.R88*	BVES_ENST00000336775.5_Nonsense_Mutation_p.R88*|BVES_ENST00000446408.2_Nonsense_Mutation_p.R88*	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	88					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AAGGCACATCGGTAGAGAGTG	0.393000													5	48					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108118020	108118020	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:108118020C>T	ENST00000273353.3	-	35	4947	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1631						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGTCCTCTTCCATCTTCTTC	0.493000													24	53					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483217	17483217	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:17483217G>A	ENST00000302539.4	-	5	860	c.735C>T	c.(733-735)atC>atT	p.I245I	ABCC8_ENST00000389817.3_Silent_p.I245I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	245					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCGCAAGTCGATGGGCTTCT	0.607000													33	58					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913053	32913053	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:32913053C>T	ENST00000544455.1	+	11	4788	c.4561C>T	c.(4561-4563)Cta>Tta	p.L1521L	BRCA2_ENST00000380152.3_Silent_p.L1521L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1521					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGAACCTACTCTATTGGGTTT	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			22	43					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967703	106967703	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:106967703C>T	ENST00000369066.3	+	2	1883	c.1396C>T	c.(1396-1398)Ctt>Ttt	p.L466F		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	466							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGGCCTTCTCTTTCACTGTC	0.488000													40	35					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411926	126411926	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:126411926C>T	ENST00000394329.3	+	17	13962	c.13949C>T	c.(13948-13950)tCa>tTa	p.S4650L	FAT4_ENST00000335110.5_Missense_Mutation_p.S2891L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4650					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAAAATTTTCAATCCAGAGG	0.498000													13	20					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936189	4936189	+	Silent	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4936189G>T	ENST00000322013.3	-	1	733	c.705C>A	c.(703-705)tcC>tcA	p.S235S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCAGCCCTGGAGGCGATGG	0.522000													22	26					1.55795e-14	1.57818e-14	1	1	0
HCAR3	8843	broad.mit.edu	37	12	123200193	123200193	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:123200193G>A	ENST00000528880.2	-	1	1246	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	364						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TCTTGGAATGGTTATTTGAGG	0.527000													40	92					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248023992	248023992	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248023992G>A	ENST00000366481.3	+	2	542	c.494G>A	c.(493-495)gGg>gAg	p.G165E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	165						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCAACGTGGGGAAAAAGACT	0.473000													16	41					0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206711542	206711542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:206711542C>T	ENST00000338603.2	+	2	556	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	RASSF5_ENST00000355294.4_Nonsense_Mutation_p.Q167*|RASSF5_ENST00000367117.3_Nonsense_Mutation_p.Q167*	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	167					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGCCTGATCCAGTTGGACTG	0.542000													52	99					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922810	24922810	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:24922810C>T	ENST00000329468.2	+	1	2270	c.1796C>T	c.(1795-1797)tCt>tTt	p.S599F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGAGTGAGCTCTCTCCCAAAT	0.468000													24	41					0	0	1	0	0
LYL1	4066	broad.mit.edu	37	19	13211542	13211542	+	Missense_Mutation	SNP	C	C	T	rs149285767	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:13211542C>T	ENST00000264824.4	-	3	716	c.356G>A	c.(355-357)gGa>gAa	p.G119E		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia derived sequence 1	119					B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			GCTAAAAGGTCCTGCTGGCCC	0.602000			T	TRB@	T-ALL								67	96					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140432990	140432990	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:140432990G>A	ENST00000274031.3	-	8	1564	c.928C>T	c.(928-930)Cac>Tac	p.H310Y	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	310	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AAACGGGGGTGGACAAACCTA	0.587000													20	53					0	0	1	0	0
ACTR1A	10121	broad.mit.edu	37	10	104242787	104242787	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:104242787G>A	ENST00000369905.4	-	7	794	c.731C>T	c.(730-732)cCt>cTt	p.P244L	ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000446605.2_Missense_Mutation_p.P197L|ACTR1A_ENST00000487599.1_Missense_Mutation_p.P244L|ACTR1A_ENST00000545684.1_Missense_Mutation_p.P170L	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	244					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCTGCCATCAGGCAGGTAGTA	0.527000													48	99					0	0	1	0	0
CIDECP	152302	broad.mit.edu	37	3	10059651	10059651	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:10059651G>A	ENST00000432401.1	-	0	505																											CCCTTGGGGGGATGCCCGTCC	0.602000													32	50					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43716006	43716006	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:43716006C>T	ENST00000360835.3	-	3	412	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	SCUBE1_ENST00000290460.7_Missense_Mutation_p.G96R	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	96	EGF-like 2; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTGTAGTTCCCCGGGATGTTG	0.527000													39	84					0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241066336	241066336	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:241066336C>T	ENST00000307266.3	-	5	402	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGCCACTTCTCTCCCGTTC	0.567000													15	49					0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15592017	15592017	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:15592017G>A	ENST00000400577.3	+	2	239	c.230G>A	c.(229-231)gGa>gAa	p.G77E	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	77	RRM.						nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CGTTTATATGGAAGACCAATT	0.388000													11	16					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76463687	76463687	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:76463687C>T	ENST00000396423.2	+	4	541	c.417C>T	c.(415-417)ccC>ccT	p.P139P	HNF4G_ENST00000354370.1_Silent_p.P102P	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	102					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAACATCCCCTCCATTAACA	0.448000													25	61					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945843	55945843	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55945843C>T	ENST00000394256.2	+	1	861	c.833C>T	c.(832-834)tCg>tTg	p.S278L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTCATTACTTCGGTTACTCCC	0.368000													27	33					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47628852	47628852	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:47628852C>T	ENST00000546455.1	+	4	737	c.6C>T	c.(4-6)atC>atT	p.I2I	PCED1B_ENST00000432328.1_Silent_p.I2I					PC-esterase domain containing 1B																		GCGTCATGATCCTTCTGCGGG	0.592000													15	26					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850924	13850924	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13850924C>T	ENST00000265104.4	-	31	5055	c.4950_splice	c.e31-1	p.E1651_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1651	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCTTGGCTTCCTATGAGAAC	0.453000									Kartagener syndrome				22	60					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333503	37333503	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:37333503G>A	ENST00000262825.5	+	14	1888	c.1671G>A	c.(1669-1671)ggG>ggA	p.G557G	CSF2RB_ENST00000406230.1_Silent_p.G557G|CSF2RB_ENST00000536485.1_Silent_p.G498G|CSF2RB_ENST00000403662.3_Silent_p.G551G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	551					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACCATCTGGGCCTGACACGA	0.612000													32	17					0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144826653	144826653	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:144826653C>T	ENST00000358615.4	-	1	59	c.8G>A	c.(7-9)gGa>gAa	p.G3E	GYPE_ENST00000437468.2_Missense_Mutation_p.G3E	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	3						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					GATTATTTTTCCATACATCCT	0.373000													18	44					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116141	161116141	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:161116141A>T	ENST00000523217.1	+	4	624	c.382A>T	c.(382-384)Ata>Tta	p.I128L	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Missense_Mutation_p.I138L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	138					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTCTTCAGAATAATGCAGAA	0.373000										TCGA Ovarian(5;0.080)			13	24					0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65551759	65551759	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:65551759G>A	ENST00000261888.6	-	6	1403	c.958C>T	c.(958-960)Cgt>Tgt	p.R320C	PARP16_ENST00000444347.2_Missense_Mutation_p.R204C	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	319						integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CTTTTCGCACGATTCCAAAAG	0.478000													63	130					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	621573	621573	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:621573C>T	ENST00000358353.3	-	6	818	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	CDHR5_ENST00000397542.2_Missense_Mutation_p.E166K|CDHR5_ENST00000349570.7_Missense_Mutation_p.E166K			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	166	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCTGTCATTTCCTGGAGGGTG	0.637000													31	61					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182129	182129	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:182129G>A	ENST00000283426.6	+	18	3557	c.3507G>A	c.(3505-3507)atG>atA	p.M1169I		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1169					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTCACAAATGAGAGGGTCCA	0.597000													14	51					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78058748	78058748	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:78058748C>T	ENST00000397545.4	+	13	2223	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	CCDC40_ENST00000374877.3_Silent_p.F732F	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	732					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCATCAACTTCCTCAACAAGC	0.617000													21	20					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626085	102626085	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:102626085G>A	ENST00000332549.3	+	3	358	c.129G>A	c.(127-129)ggG>ggA	p.G43G	IL1R2_ENST00000393414.2_Silent_p.G43G|IL1R2_ENST00000441002.1_Silent_p.G43G	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	43	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GGCTGGAAGGGGAGCCTGTAG	0.597000													40	87					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797299	38797299	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38797299G>A	ENST00000449082.2	-	10	1440	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	481					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	tGGTTGTAAGGATCAGAGCGG	0.488000													48	99					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32635800	32635800	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:32635800G>A	ENST00000335185.5	-	16	2107	c.2064C>T	c.(2062-2064)gtC>gtT	p.V688V		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	688										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TATCATTACAGACTTGCAGAA	0.303000													14	34					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59925190	59925190	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:59925190C>T	ENST00000256858.6	+	14	2154	c.1906C>T	c.(1906-1908)Cgt>Tgt	p.R636C	KIAA1468_ENST00000398130.2_Missense_Mutation_p.R636C			Q9P260	K1468_HUMAN	KIAA1468	636							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GAAAGAAATCCGTAGCTCCTT	0.333000													12	48					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92365156	92365156	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:92365156G>A	ENST00000276609.3	+	11	1485	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	SLC26A7_ENST00000523719.1_Missense_Mutation_p.G416R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.G416R|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	416						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATTGTTGTGGGACTGAAGGG	0.313000													115	23					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52860887	52860887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:52860887C>A	ENST00000266041.4	-	4	535	c.439G>T	c.(439-441)Gag>Tag	p.E147*	ITIH4_ENST00000406595.1_Nonsense_Mutation_p.E147*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.E147*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.E147*|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.E59*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	147	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCAGCTCCTCATAGACCAGC	0.602000													26	34					3.1745e-13	3.21263e-13	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60566687	60566687	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:60566687C>G	ENST00000400324.4	-	10	1265	c.1045G>C	c.(1045-1047)Gtt>Ctt	p.V349L	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V279L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V349L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V338L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V349L|DIAPH3_ENST00000400320.1_Missense_Mutation_p.V303L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	349	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGAGATGTAACCAGGGCATTG	0.413000													3	39					0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92654570	92654570	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:92654570C>T	ENST00000413330.1	+	7	506	c.471C>T	c.(469-471)agC>agT	p.S157S	RPP30_ENST00000371703.3_Silent_p.S157S|RPP30_ENST00000489806.1_3'UTR	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	157					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TTGTCTATAGCCCTGCTATCA	0.413000													36	76					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248004713C>T	ENST00000355784.2	-	1	541	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTGGAAATCATCAGGGAAG	0.557000													37	73					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64738853	64738853	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:64738853G>A	ENST00000413366.3	+	13	1525	c.1499G>A	c.(1498-1500)gGg>gAg	p.G500E		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	500	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACCTTCTGTGGGACTCCAGAT	0.483000													11	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412731	179412731	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179412731C>T	ENST00000589042.1	-	339	93846	c.93622G>A	c.(93622-93624)Gag>Aag	p.E31208K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22143K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29567K|TTN_ENST00000342992.6_Missense_Mutation_p.E28640K|TTN_ENST00000342175.6_Missense_Mutation_p.E22335K|TTN_ENST00000359218.5_Missense_Mutation_p.E22268K|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29567	Fibronectin type-III 127.						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)			ATTTGAGGCTCCTTAATGATG	0.453000													10	9					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395406	115395406	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:115395406G>A	ENST00000393780.3	+	3	1153	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	GAP43_ENST00000305124.6_Missense_Mutation_p.A193T	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	193					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CAAGGCAACAGCCCAGCCTCC	0.612000													4	12					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63937265	63937265	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:63937265G>A	ENST00000443617.2	-	57	11197	c.11110C>T	c.(11110-11112)Cgc>Tgc	p.R3704C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3704					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAGGAATGCGCCAAACACAT	0.383000													55	83					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12919117	12919117	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12919117G>A	ENST00000338034.4	-	4	639	c.400C>T	c.(400-402)Cca>Tca	p.P134S	ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000426905.3_Missense_Mutation_p.P134S|ELAC2_ENST00000395962.2_Missense_Mutation_p.P115S	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	134					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ACACACTTTGGAAGCCCGGTT	0.393000													36	69					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228402711	228402711	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:228402711G>A	ENST00000570156.2	+	5	1814	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A	OBSCN_ENST00000284548.11_Silent_p.A580A|OBSCN_ENST00000422127.1_Silent_p.A580A|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	580	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGATGTGGCGGAGGAGGGGA	0.592000													8	4					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40415935	40415935	+	Silent	SNP	C	C	T	rs142043340		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:40415935C>T	ENST00000333407.5	+	3	796	c.702C>T	c.(700-702)ccC>ccT	p.P234P	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	234										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TCTACATGCCCATGGGGAGGA	0.587000													41	54					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720153	160720153	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160720153C>T	ENST00000368043.3	+	4	746	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.L130L|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L237L|SLAMF7_ENST00000458104.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	237					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTGCCCCTCCTGCTCAGTCT	0.502000													57	124					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512584	123512584	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:123512584G>A	ENST00000360772.3	-	5	483	c.105C>T	c.(103-105)ttC>ttT	p.F35F	MYLK_ENST00000475616.1_Silent_p.F35F|MYLK_ENST00000346322.5_Silent_p.F35F|MYLK_ENST00000359169.1_Silent_p.F35F|MYLK_ENST00000360304.3_Silent_p.F35F			Q15746	MYLK_HUMAN	myosin light chain kinase	35	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGGGCAAAATGAAAGCAGGGG	0.567000													13	19					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39623286	39623286	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:39623286C>T	ENST00000225899.3	-	1	395	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	98	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGCATGGTTTCCTTCTCATTG	0.607000													39	64					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458398	45458398	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:45458398C>T	ENST00000548424.1	+	0	448																											TACCTGTTTTCCTTTGGCTCC	0.522000													6	21					0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75884292	75884292	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:75884292G>A	ENST00000266659.3	+	3	728	c.527G>A	c.(526-528)gGa>gAa	p.G176E		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	176					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TGCAACTACGGACCAGGGTAA	0.438000													18	16					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47611580	47611580	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47611580C>T	ENST00000371891.3	+	10	1296	c.1265C>T	c.(1264-1266)cCa>cTa	p.P422L	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P422L|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P324L	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	422						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACCACAACCCAAAAGTGTGG	0.517000													116	173					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120101	103120101	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:103120101C>T	ENST00000295269.4	+	3	1372	c.915C>T	c.(913-915)atC>atT	p.I305I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	305					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCCACTCATCGTCTTCATGT	0.428000													31	38					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671293	49671293	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:49671293C>T	ENST00000252826.5	+	4	513	c.387C>T	c.(385-387)gtC>gtT	p.V129V	TRPM4_ENST00000427978.2_Silent_p.V129V|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	129					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGGCCCCGTCCTCCAGACCT	0.682000													45	73					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714074	70714074	+	RNA	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70714074G>C	ENST00000530196.1	-	0	444					NR_003951.1																						ATGAAGAGCTGATCCTCCAGG	0.498000													11	70					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133878113	133878113	+	Silent	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:133878113T>A	ENST00000427044.2	-	15	1723	c.1113A>T	c.(1111-1113)cgA>cgT	p.R371R	RYK_ENST00000296084.4_Silent_p.R561R			P34925	RYK_HUMAN	receptor-like tyrosine kinase	557	Protein kinase.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						GCTGGGCTATTCGGTAACCAT	0.453000													15	19					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51470516	51470516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51470516G>A	ENST00000376851.3	-	3	545	c.106C>T	c.(106-108)Caa>Taa	p.Q36*	KLK6_ENST00000594641.1_Nonsense_Mutation_p.Q36*|KLK6_ENST00000376853.4_Nonsense_Mutation_p.Q36*|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000310157.2_Nonsense_Mutation_p.Q36*|KLK6_ENST00000424910.2_Intron	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	36	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGGGCAGCTTGGTAGGGGTGA	0.567000													19	32					0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31214502	31214502	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:31214502C>T	ENST00000294507.3	-	3	317	c.243G>A	c.(241-243)ctG>ctA	p.L81L		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	81					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CTACGCCGATCAGTAGGCTCA	0.612000													4	6					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68500193	68500193	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:68500193G>A	ENST00000322244.4	-	21	1945	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	629					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGCTGGAAAGGATTTTAGAGT	0.333000													29	54					0	0	1	0	0
FAM86B1	85002	broad.mit.edu	37	8	12042957	12042957	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:12042957G>A	ENST00000448228.2	-	6	767	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	FAM86B1_ENST00000534520.1_Missense_Mutation_p.A151V|FAM86B1_ENST00000533852.2_Missense_Mutation_p.R274W|FAM86B1_ENST00000321602.8_Missense_Mutation_p.R46W	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	240										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TCAGGAGCCCGCTTGTGCTCC	0.632000													9	41					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201063015	201063015	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:201063015G>A	ENST00000362061.3	-	3	619	c.393C>T	c.(391-393)ttC>ttT	p.F131F	CACNA1S_ENST00000367338.3_Silent_p.F131F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	131					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCACCCCAGGAAGACAATGG	0.577000													22	55					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336367	147336367	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:147336367C>T	ENST00000361727.3	+	13	2583	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	689	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTCCTATTTCTGCAAGATGT	0.448000										HNSCC(39;0.1)			16	62					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049344	70049344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70049344C>T	ENST00000330891.5	-	10	1576	c.1350G>A	c.(1348-1350)tgG>tgA	p.W450*	BEST3_ENST00000553096.1_Nonsense_Mutation_p.W344*|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Nonsense_Mutation_p.W237*	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	450						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGATTTCTTCCAGGTGGGTG	0.587000													16	31					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55874943	55874943	+	Missense_Mutation	SNP	C	C	T	rs78957351		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:55874943C>T	ENST00000388975.3	-	8	942	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	276					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGATTTTCATTTTCCACT	0.313000													11	23					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34937857	34937857	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:34937857C>T	ENST00000360359.3	+	3	487	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	ANKS1A_ENST00000535627.1_Silent_p.L117L	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	117						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGCTACCCTCTGCATTTGGC	0.522000													30	119					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061227	111061227	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:111061227C>T	ENST00000369771.2	-	1	570	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	61						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.T61T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGGAGAAGGCCGTCTCATGGT	0.582000													26	50					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714696	183714696	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:183714696G>A	ENST00000511685.1	+	26	6994	c.6871G>A	c.(6871-6873)Gaa>Aaa	p.E2291K	TENM3_ENST00000406950.2_Missense_Mutation_p.E2291K					teneurin transmembrane protein 3																		CAGTGGGGATGAATTCTATAT	0.423000													4	20					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200572378	200572378	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:200572378G>A	ENST00000367350.4	-	10	2393	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	652					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCACGATAAGGAATAAAAAC	0.338000													25	52					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228128517	228128517	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:228128517G>A	ENST00000396578.3	+	21	1334	c.1172G>A	c.(1171-1173)aGa>aAa	p.R391K	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	391	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTGGCCTCAGAGGAGCCCCT	0.468000													5	12					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947509	148947509	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:148947509C>T	ENST00000335870.2	+	2	412	c.284C>T	c.(283-285)gCc>gTc	p.A95V		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGCAAGTGGGCCGTGCTGGGG	0.642000													39	139					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266349	38266349	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:38266349G>A	ENST00000379705.3	-	4	1878	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	TRPC4_ENST00000379679.1_Missense_Mutation_p.P168S|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168S|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341S|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341S|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341S|TRPC4_ENST00000447043.1_Missense_Mutation_p.P341S|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341S|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	341					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGAAGACAGGAAAAAGAAGT	0.473000													14	14					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258104	57258104	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:57258104C>T	ENST00000343433.6	-	2	462	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	128										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATTACTTTTTCCTTAGTGATT	0.428000													33	99					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115759671	115759671	+	RNA	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:115759671A>C	ENST00000427548.1	-	0	2142							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATAGGGTTTCACACAAGAATG	0.383000													44	118					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82996972	82996972	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82996972T>C	ENST00000307792.3	-	17	2725	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.N693S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	753	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCCTGAGGGTTGGCATACTT	0.483000													62	118					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331460	70331460	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:70331460C>T	ENST00000338508.4	-	32	4940	c.4941G>A	c.(4939-4941)ctG>ctA	p.L1647L	SHANK2_ENST00000449833.2_Silent_p.L1051L|SHANK2_ENST00000423696.2_Silent_p.L1267L|SHANK2_ENST00000409161.1_Silent_p.L1050L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1267					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTGGTGAATCCAGTCCTTCCC	0.552000													34	55					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3143430	3143430	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:3143430C>T	ENST00000446632.2	-	5	887	c.313G>A	c.(313-315)Gac>Aac	p.D105N	IL5RA_ENST00000430514.2_Missense_Mutation_p.D105N|IL5RA_ENST00000256452.3_Missense_Mutation_p.D105N|IL5RA_ENST00000438560.1_Missense_Mutation_p.D105N|IL5RA_ENST00000456302.1_Missense_Mutation_p.D105N|IL5RA_ENST00000383846.1_Missense_Mutation_p.D105N|IL5RA_ENST00000445864.2_Missense_Mutation_p.D105N|IL5RA_ENST00000311981.8_Missense_Mutation_p.D105N|IL5RA_ENST00000418488.2_Missense_Mutation_p.D105N	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	105					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.D105N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGTGAGTGGTCGTTCTGCAGG	0.473000													24	35					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129511477	129511477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:129511477G>A	ENST00000421865.2	+	11	1644	c.1595G>A	c.(1594-1596)tGg>tAg	p.W532*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	532	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGTTCCTACTGGACCTATGGC	0.443000													7	5					0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47259901	47259901	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:47259901C>T	ENST00000318584.5	+	4	1491	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	FKRP_ENST00000391909.3_Silent_p.V398V|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	398						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGAAGGCGGTCGAGGGCGACT	0.632000													5	9					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53779725	53779725	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:53779725C>T	ENST00000288139.3	+	25	3259	c.3141C>T	c.(3139-3141)ttC>ttT	p.F1047F	CACNA1D_ENST00000422281.2_Silent_p.F1027F|CACNA1D_ENST00000350061.5_Silent_p.F1027F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1027					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCTGCAGTTCATGTTTGCCT	0.537000													29	48					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967226	142967226	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:142967226C>T	ENST00000370494.1	+	1	54	c.24C>T	c.(22-24)atC>atT	p.I8I		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	8							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACAGGATCATCAAGGAAA	0.458000													34	13					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144886751	144886751	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:144886751G>A	ENST00000356994.2	-	21	3002	c.2996C>T	c.(2995-2997)cCa>cTa	p.P999L	SCRIB_ENST00000377533.3_Missense_Mutation_p.P918L|SCRIB_ENST00000320476.3_Missense_Mutation_p.P999L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	999	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACTGGGTATGGCCCTTCCAA	0.672000													25	6					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35793411	35793411	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35793411C>T	ENST00000361922.4	+	7	1181	c.1031C>T	c.(1030-1032)tCt>tTt	p.S344F	MAG_ENST00000392213.3_Missense_Mutation_p.S344F|MAG_ENST00000537831.2_Missense_Mutation_p.S319F	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	344	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGACGGTCTCTATCTTGTGC	0.582000													19	30					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803388	27803388	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:27803388G>A	ENST00000408964.2	+	1	4000	c.3949G>A	c.(3949-3951)Gaa>Aaa	p.E1317K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1317										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTAGGGAATTAGCAGC	0.398000													15	20					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269665	150269665	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150269665G>A	ENST00000255945.2	+	3	682	c.507G>A	c.(505-507)agG>agA	p.R169R	GIMAP4_ENST00000461940.1_Silent_p.R183R|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	169							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTACTTAAGGGAAGCTCCAG	0.468000													71	51					0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186329176	186329176	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:186329176G>A	ENST00000264689.6	-	9	1151	c.1035C>T	c.(1033-1035)gtC>gtT	p.V345V		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	345						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GCCGCGATCCGACAAATGTTG	0.398000													3	51					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155215199	155215199	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:155215199G>A	ENST00000460012.1	-	15	2071	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	PLCH1_ENST00000340059.7_Missense_Mutation_p.R590C|PLCH1_ENST00000447496.2_Missense_Mutation_p.R590C|PLCH1_ENST00000414191.1_Missense_Mutation_p.R572C|PLCH1_ENST00000334686.6_Missense_Mutation_p.R572C|PLCH1_ENST00000494598.1_Missense_Mutation_p.R590C			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	590					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCCTTCGGCGACCCAATCTG	0.463000													27	44					0	0	1	0	0
RABL6	55684	broad.mit.edu	37	9	139733736	139733736	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:139733736C>T	ENST00000371675.3	+	12	2096	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	RABL6_ENST00000432842.2_Intron|RABL6_ENST00000371663.4_Missense_Mutation_p.P520L|RABL6_ENST00000311502.7_Missense_Mutation_p.P519L|RABL6_ENST00000357466.2_Intron					RAB, member RAS oncogene family-like 6																		GCAGCACCCCCCTGGCCAGGC	0.667000													3	6					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334316	35334316	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:35334316G>A	ENST00000373347.1	-	9	2643	c.2375C>T	c.(2374-2376)cCa>cTa	p.P792L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P792L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	792					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCGTCGCGTGGGCAGGGGGA	0.697000													26	33					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4414375	4414375	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4414375G>A	ENST00000251166.4	-	14	1322	c.1177C>T	c.(1177-1179)Ccg>Tcg	p.P393S	CORO7_ENST00000574025.1_Missense_Mutation_p.P308S|CORO7_ENST00000423908.2_Missense_Mutation_p.P225S|CORO7_ENST00000539968.1_Missense_Mutation_p.P173S|CORO7_ENST00000537233.2_Missense_Mutation_p.P375S|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.P393S	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTGAAGCTCGGGTGGGGCCGG	0.697000													5	7					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860627	16860627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16860627C>T	ENST00000524140.2	+	6	1592	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	NWD1_ENST00000339803.6_Nonsense_Mutation_p.Q257*|NWD1_ENST00000379808.3_Nonsense_Mutation_p.Q392*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.Q392*|NWD1_ENST00000523826.1_Nonsense_Mutation_p.Q186*|NWD1_ENST00000552788.1_Nonsense_Mutation_p.Q392*	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	392	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATCTGCTTCCAGGTGTGCCT	0.627000													10	27					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115117739	115117739	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:115117739C>T	ENST00000257566.3	-	3	1085	c.696G>A	c.(694-696)ggG>ggA	p.G232G	TBX3_ENST00000349155.2_Intron	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	232					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AACTATAATTCCCCTGCCACG	0.443000													24	42					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19643780	19643780	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:19643780C>T	ENST00000457500.2	-	6	1147	c.818G>A	c.(817-819)gGg>gAg	p.G273E	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G273E|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G273E|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G200E	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	273					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	AGCATCTTCCCCGTAGAACTC	0.572000													22	68					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160262956	160262956	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160262956C>T	ENST00000241704.7	-	27	3052	c.2823_splice	c.e27+1	p.R941_splice	COPA_ENST00000368069.3_Splice_Site_p.R950_splice	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	941					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTACTTACCCGCATGGCTG	0.468000													43	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614350	179614350	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179614350G>A	ENST00000360870.5	-	46	12999	c.12777C>T	c.(12775-12777)ttC>ttT	p.F4259F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	410							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)			CAATATTTTCGAATTGACTAT	0.373000													13	21					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176461	57176461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:57176461C>A	ENST00000537055.2	-	2	337	c.106G>T	c.(106-108)Gag>Tag	p.E36*		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCTCTGGCTCTGGACAGCTT	0.602000													14	33					5.35267e-07	5.38849e-07	1	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33959884	33959884	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33959884G>A	ENST00000361328.3	+	8	2093	c.1940G>A	c.(1939-1941)gGa>gAa	p.G647E		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	647					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)				GGTTTGCCTGGAGCCTTATCA	0.428000													21	30					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462070	72462070	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:72462070G>A	ENST00000373208.1	+	3	525	c.525G>A	c.(523-525)gcG>gcA	p.A175A	ADAMTS14_ENST00000373207.1_Silent_p.A175A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	175					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A175A(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGGTTCAGGCGGGCCTCATCC	0.587000													38	70					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587879	247587879	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:247587879G>A	ENST00000366497.2	+	4	1914	c.1134G>A	c.(1132-1134)agG>agA	p.R378R	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.R378R|NLRP3_ENST00000391827.2_Silent_p.R378R|NLRP3_ENST00000348069.2_Silent_p.R378R|NLRP3_ENST00000366496.2_Silent_p.R378R|NLRP3_ENST00000336119.3_Silent_p.R378R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	378	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGCCAAAAGGAAAGAGTACT	0.542000													14	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615363	179615363	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179615363C>T	ENST00000360870.5	-	46	11986	c.11764G>A	c.(11764-11766)Gaa>Aaa	p.E3922K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9742							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)			TCCTTCTGTTCGGTTTTGAAT	0.338000													7	16					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11191209	11191209	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:11191209G>A	ENST00000379446.5	-	5	1059	c.893C>T	c.(892-894)tCc>tTc	p.S298F	NEDD9_ENST00000504387.1_Missense_Mutation_p.S298F|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	298					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTGATTCGGGGACAGGCTCTG	0.572000													47	57					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55948164	55948164	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:55948164C>T	ENST00000263923.4	-	29	4102	c.3807G>A	c.(3805-3807)ctG>ctA	p.L1269L	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1269					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCAAAGTTTTCAGCTCTTCTG	0.368000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			40	64					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22476272	22476272	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:22476272C>T	ENST00000390447.3	+	0	319																											ATTGGTTTTCCTTATTCGTCG	0.423000													6	15					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838626	155838626	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:155838626G>A	ENST00000490337.1	+	1	290	c.226G>A	c.(226-228)Gac>Aac	p.D76N	KCNAB1_ENST00000389636.5_Missense_Mutation_p.D76N	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	76						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGCTCTGCGACCTGTCCAG	0.617000													19	24					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284394	152284394	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152284394C>T	ENST00000368799.1	-	3	3003	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	990	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.572000									Ichthyosis				107	187					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50190418	50190418	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:50190418C>T	ENST00000284509.6	-	22	2461	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D774N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	774					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTAGGAGATCATTCTTGACA	0.393000													14	30					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53188041	53188041	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53188041G>A	ENST00000417996.2	-	2	794	c.720C>T	c.(718-720)tcC>tcT	p.S240S	KRT3_ENST00000309505.3_Silent_p.S240S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	240	Linker 1.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TGCCTGAGATGGAACTTGTGC	0.542000													37	59					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65168331	65168331	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:65168331C>T	ENST00000317568.5	+	9	1227	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	FRMD8_ENST00000355991.5_Missense_Mutation_p.S299F|FRMD8_ENST00000416776.2_Missense_Mutation_p.S321F	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	355	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						AAGATCTACTCCAAGCAGGTA	0.652000													22	27					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79803495	79803495	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:79803495G>A	ENST00000331483.4	-	9	1523	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.A390V	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	434	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CACTTTGACGGCCTCCACCTC	0.582000													17	21					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199214	118199214	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:118199214G>A	ENST00000425217.1	-	4	555	c.501C>T	c.(499-501)tcC>tcT	p.S167S	KSR2_ENST00000339824.5_Silent_p.S196S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	196					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGCTCTGGGAGAGATGGG	0.652000													13	18					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566602	45566602	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:45566602C>T	ENST00000588982.1	-	3	1378	c.877G>A	c.(877-879)Gag>Aag	p.E293K	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E293K|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E293K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E293K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E293K			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	293						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCTCCTTCTCCTCCTCCTTG	0.617000													15	63					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35506837	35506837	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35506837C>T	ENST00000599564.1	+	12	1511	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	GRAMD1A_ENST00000411896.2_Silent_p.F386F|GRAMD1A_ENST00000317991.5_Silent_p.F393F|GRAMD1A_ENST00000504615.2_Silent_p.F159F|CTD-2527I21.14_ENST00000605640.1_RNA			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	393						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTCGCCCTTCCTCCAGGGCT	0.632000													31	35					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18260595	18260595	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:18260595C>T	ENST00000251900.4	-	14	2097	c.1938G>A	c.(1936-1938)caG>caA	p.Q646Q	SCML2_ENST00000398048.3_Intron	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	646	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GGCCTGATATCTGAGGATCTG	0.483000													28	14					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37688708	37688708	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:37688708C>T	ENST00000248901.6	+	2	253	c.66C>T	c.(64-66)atC>atT	p.I22I	CYTH4_ENST00000402997.1_Silent_p.I22I|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000405206.3_Silent_p.I22I	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	22					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TACAGAGGATCAAGTGGCACC	0.607000													57	56					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476088	65476088	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:65476088G>A	ENST00000519389.1	+	17	3153	c.2974G>A	c.(2974-2976)Gaa>Aaa	p.E992K	HEPH_ENST00000419594.1_Missense_Mutation_p.E749K|HEPH_ENST00000343002.2_Missense_Mutation_p.E938K|HEPH_ENST00000336279.5_Missense_Mutation_p.E671K|HEPH_ENST00000441993.2_Missense_Mutation_p.E941K|HEPH_ENST00000374727.3_Missense_Mutation_p.E941K			Q9BQS7	HEPH_HUMAN	hephaestin	938	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTATTTGGAGGAAAATGTGGC	0.433000													23	11					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805457	54805457	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:54805457C>T	ENST00000306858.7	+	5	1804	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	563										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACAACTGGCTCCTCAAATTCA	0.438000													11	41					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46724658	46724658	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:46724658C>T	ENST00000454366.1	+	10	2010	c.1798C>T	c.(1798-1800)Cct>Tct	p.P600S		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	581					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CAGGGGTTCTCCTCCTTCCCG	0.493000													65	58					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16664973	16664973	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:16664973G>A	ENST00000443444.2	+	13	3747	c.3607G>A	c.(3607-3609)Gaa>Aaa	p.E1203K	CCDC144A_ENST00000456009.1_Missense_Mutation_p.E969K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E1203K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E1203K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E1203K			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1203																	ACTGTTGATTGAAGAAAGAGC	0.348000													14	35					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193061778	193061778	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:193061778G>A	ENST00000342358.4	-	9	998	c.881C>T	c.(880-882)tCa>tTa	p.S294L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	294					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACATGGCAATGAAAATTTTCC	0.463000													10	31					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167439	24167439	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:24167439G>A	ENST00000265769.4	+	3	293	c.183G>A	c.(181-183)atG>atA	p.M61I	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.M61I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	61					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTATAAAATGACAATTAATG	0.279000													26	35					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72388250	72388250	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:72388250C>T	ENST00000333850.3	+	8	1114	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	325					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GGGACATGTTCCACTACTTGC	0.423000													34	69					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329602	152329602	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152329602C>T	ENST00000388718.5	-	3	732	c.660G>A	c.(658-660)ggG>ggA	p.G220G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	220	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATACTCCTCCCCAGATTCCC	0.453000													75	161					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848946	42848946	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:42848946C>T	ENST00000334370.4	+	12	2693	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	MEGF8_ENST00000251268.6_Silent_p.L686L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	754						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCACTTGCTCACCTTTCAGC	0.617000													25	61					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107847068	107847068	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:107847068C>T	ENST00000285311.3	-	2	966	c.261G>A	c.(259-261)ggG>ggA	p.G87G	DKK2_ENST00000513208.1_5'UTR|DKK2_ENST00000510463.1_Silent_p.G41G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	87	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGCAATACCTCCCAACTTCAC	0.502000													17	42					0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43029218	43029218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:43029218C>T	ENST00000394056.2	+	3	640	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	KLC4_ENST00000458460.2_Nonsense_Mutation_p.Q49*|KLC4_ENST00000453940.2_Nonsense_Mutation_p.Q49*|KLC4_ENST00000347162.5_Nonsense_Mutation_p.Q49*|KLC4_ENST00000259708.3_Nonsense_Mutation_p.Q67*|KLC4_ENST00000479388.1_Nonsense_Mutation_p.Q49*|KLC4_ENST00000394058.1_Nonsense_Mutation_p.Q49*			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	49						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AAGCCTGTCCCAGACCATTGA	0.617000													11	34					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760287	167760287	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:167760287G>A	ENST00000409195.1	+	2	384	c.295G>A	c.(295-297)Gat>Aat	p.D99N	XIRP2_ENST00000295237.9_Missense_Mutation_p.D99N|XIRP2_ENST00000409728.1_Missense_Mutation_p.D99N|XIRP2_ENST00000409756.2_Missense_Mutation_p.D99N|XIRP2_ENST00000409043.1_Missense_Mutation_p.D99N|XIRP2_ENST00000420519.1_Missense_Mutation_p.D99N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGAAGGAGGATTCCCTGAG	0.512000													14	36					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114198	147114198	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:147114198G>A	ENST00000383075.3	-	3	641	c.129C>T	c.(127-129)ttC>ttT	p.F43F	ZIC4_ENST00000425731.3_Silent_p.F81F|ZIC4_ENST00000484399.1_Silent_p.F43F|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Silent_p.F43F|ZIC4_ENST00000525172.2_Silent_p.F93F	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	43						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGAGGCCCGGGAACACCGAGG	0.672000													10	23					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109777952	109777952	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:109777952C>T	ENST00000369923.4	+	7	879	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	SARS_ENST00000234677.2_Silent_p.L290L			P49591	SYSC_HUMAN	seryl-tRNA synthetase	290					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GCCGGAGGACCTGCCCATCAA	0.577000													31	39					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821611	151821611	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:151821611C>T	ENST00000370306.2	+	9	1786	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	589						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGGTGCTCCTTCACTGAA	0.542000													25	13					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798460	69798460	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:69798460G>A	ENST00000251566.4	-	3	912	c.882C>T	c.(880-882)gtC>gtT	p.V294V	UGT2A3_ENST00000420231.2_Silent_p.V5V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	294						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGAACTCTGGACAAAATTTT	0.333000													50	71					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877367	96877367	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:96877367G>A	ENST00000394166.3	+	2	1894	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	NR2F2_ENST00000453270.2_Missense_Mutation_p.G16R|NR2F2_ENST00000421109.2_Missense_Mutation_p.G36R|NR2F2_ENST00000394171.2_Missense_Mutation_p.G16R	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	169	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.G169W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTGACCAACGGGGATCCCCT	0.637000													64	133					0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41791933	41791933	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:41791933C>T	ENST00000266304.4	+	4	997	c.881C>T	c.(880-882)tCc>tTc	p.S294F	TEF_ENST00000406644.3_Missense_Mutation_p.S264F	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	294					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCATCGTGTCCAAGTATGAG	0.642000													22	89					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084988	31084988	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:31084988C>T	ENST00000376288.2	-	2	430	c.404G>A	c.(403-405)gGg>gAg	p.G135E	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	135	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GCTGCTGCTCCCCAGCTGGGA	0.577000													11	40					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829745	106829745	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:106829745C>T	ENST00000390616.2	-	0	248																											TTCCCCAATCCACTCCAGCCC	0.562000													24	54					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193376716	193376716	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:193376716C>T	ENST00000361510.2	+	24	2606	c.2372C>T	c.(2371-2373)tCt>tTt	p.S791F	OPA1_ENST00000392438.3_Missense_Mutation_p.S736F|OPA1_ENST00000361908.3_Missense_Mutation_p.S773F|OPA1_ENST00000361150.2_Missense_Mutation_p.S737F|OPA1_ENST00000361715.2_Missense_Mutation_p.S755F|OPA1_ENST00000361828.2_Missense_Mutation_p.S754F	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	736					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CGATCCATATCTGATAAACAG	0.388000													25	49					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251489	40251489	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:40251489G>A	ENST00000302541.6	+	11	2152	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	MYRIP_ENST00000396217.3_Missense_Mutation_p.D515N|MYRIP_ENST00000539167.1_Missense_Mutation_p.D417N|MYRIP_ENST00000425621.1_Missense_Mutation_p.D604N|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.D604N	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	604	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TTCAGGGGAGGATCAGGAGTC	0.493000													12	29					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828183	57828183	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:57828183G>A	ENST00000371030.2	+	4	4178	c.4178G>A	c.(4177-4179)cGa>cAa	p.R1393Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1393						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGGACAAACGAACTGTGAAG	0.468000													40	83					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128732767	128732767	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:128732767T>C	ENST00000296464.3	+	12	1965	c.1554T>C	c.(1552-1554)ttT>ttC	p.F518F	HSPA4L_ENST00000505726.1_Silent_p.F492F|HSPA4L_ENST00000508776.1_Silent_p.F518F|HSPA4L_ENST00000439123.2_Silent_p.F549F	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	518					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAACTTCATTTAAAAATGAAA	0.338000													12	21					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945537	72945537	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:72945537C>T	ENST00000311131.2	+	3	800	c.333C>T	c.(331-333)ttC>ttT	p.F111F	P2RY2_ENST00000393596.2_Silent_p.F111F|P2RY2_ENST00000393597.2_Silent_p.F111F	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	111					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGGTGCGCTTCCTCTTCTACA	0.622000													34	46					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928676	32928676	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:32928676C>T	ENST00000361627.3	+	12	2424	c.1702C>T	c.(1702-1704)Cct>Tct	p.P568S	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.P379S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.P379S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	568					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TGAACTCACCCCTTCCAATTT	0.373000													23	31					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149517995	149517995	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:149517995C>T	ENST00000378016.2	+	0	12338							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTGCGTGCCAATTGGGCAC	0.667000													17	27					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125622205	125622205	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:125622205G>A	ENST00000241305.3	-	3	592	c.438C>T	c.(436-438)atC>atT	p.I146I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	146	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGAAGTCTGTGATTTTTAAGG	0.498000													16	33					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940480	82940480	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:82940480C>T	ENST00000274341.4	-	4	1327	c.477G>A	c.(475-477)gtG>gtA	p.V159V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	159	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		AAGGGAATACCACACCTGTCC	0.512000													11	12					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52854939	52854939	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:52854939G>A	ENST00000371568.3	-	7	1355	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	ORC1_ENST00000371566.1_Silent_p.I379I	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	379					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTTTCTGCGGATACGATGGG	0.488000													33	53					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534881	96534881	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:96534881G>A	ENST00000371321.3	+	2	317	c.235G>A	c.(235-237)Gga>Aga	p.G79R	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	79					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.G79*(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGTGCTGCATGGATATGAAGT	0.458000													28	71					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762104	92762104	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:92762104C>T	ENST00000318238.4	-	5	4397	c.3181G>A	c.(3181-3183)Gct>Act	p.A1061T	SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1061T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1061T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1061										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCTGTAAAGCTTCCATTAAT	0.383000													27	57					0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101960916	101960916	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:101960916G>A	ENST00000536178.1	+	9	1676	c.1631G>A	c.(1630-1632)gGc>gAc	p.G544D	SH2B2_ENST00000306803.8_Missense_Mutation_p.G504D			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	505					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GAGTCAGGGGGCTCGGCCGAC	0.612000													25	39					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832162	61832162	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:61832162G>A	ENST00000280772.1	-	37	8668	c.8477C>T	c.(8476-8478)tCt>tTt	p.S2826F	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2826					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGCTGCTCAGAAAAAGAGTC	0.413000													26	56					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115338599	115338599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:115338599C>T	ENST00000357872.4	+	11	2012	c.1888C>T	c.(1888-1890)Caa>Taa	p.Q630*	AQPEP_ENST00000395528.2_Nonsense_Mutation_p.Q147*	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		630					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CTGGCTAGATCAAAGCAGCAG	0.294000													11	20					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73617306	73617306	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:73617306G>A	ENST00000261917.3	-	6	2961	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	656					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTCCAAAGTAGGAGCCGTCGG	0.632000													9	16					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58619371	58619371	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:58619371A>G	ENST00000317147.5	-	8	1009	c.677T>C	c.(676-678)cTt>cCt	p.L226P	CNOT1_ENST00000569240.1_Missense_Mutation_p.L226P|CNOT1_ENST00000441024.2_Missense_Mutation_p.L226P	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	226					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGGGTATAAAAGTGGTGCGAG	0.443000													17	26					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340018	100340018	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:100340018G>A	ENST00000341853.1	-	0	908					NR_003260.1																						AGTGCAGGTTGGACAGCAGCT	0.617000													4	8					0	0	1	0	0
MSRB1	51734	broad.mit.edu	37	16	1991306	1991306	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:1991306G>A	ENST00000361871.3	-	2	325	c.156C>T	c.(154-156)gcC>gcT	p.A52A	MSRB1_ENST00000564908.1_Silent_p.A52A|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000399753.2_Silent_p.A52A	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1	52					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding									L-Methionine(DB00134)	CCACGCTGTCGGCGTGAATGG	0.622000													26	30					0	0	1	0	0
GPR18	2841	broad.mit.edu	37	13	99907947	99907947	+	Nonsense_Mutation	SNP	A	A	T	rs147490848	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:99907947A>T	ENST00000340807.3	-	3	736	c.180T>A	c.(178-180)taT>taA	p.Y60*	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Nonsense_Mutation_p.Y60*|GPR18_ENST00000397473.2_Nonsense_Mutation_p.Y60*			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	60						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CATTCATCATATAGATGGTTA	0.343000													16	51					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3129908	3129908	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:3129908C>T	ENST00000359864.2	+	9	882	c.692C>T	c.(691-693)gCc>gTc	p.A231V	TEAD4_ENST00000358409.2_Missense_Mutation_p.A188V|TEAD4_ENST00000397122.2_Missense_Mutation_p.A102V	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	231					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GAGTTCTCTGCCTTCCTGGAG	0.682000													23	34					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590585	86590585	+	Silent	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:86590585T>G	ENST00000370571.2	-	3	1800	c.1434A>C	c.(1432-1434)ctA>ctC	p.L478L	COL24A1_ENST00000436319.1_Silent_p.L478L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	478					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCATTGTATTTAGATCCTCAT	0.333000													19	35					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841819	8841819	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8841819G>A	ENST00000324060.2	+	1	504	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TATGTCTGCTGATGATGGGCT	0.547000													25	55					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60893271	60893271	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:60893271C>T	ENST00000347785.3	+	10	1614	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	483					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GACAACTCCTCCGACAGTGAC	0.607000													13	41					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612077	20612077	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20612077C>T	ENST00000333629.1	+	1	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CCCTCTATTTCTTTCTGGGCA	0.453000													87	148					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853624	143853624	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:143853624C>T	ENST00000507359.2	+	3	2325	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	KCTD16_ENST00000512467.1_Missense_Mutation_p.P412S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	412						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGATCGGTTTCCTGAGAGAAA	0.378000													20	55					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725001	158725001	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158725001C>T	ENST00000368144.2	+	1	492	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGTACTTTTTCCACTCACTTG	0.493000													16	38					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150768656	150768656	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150768656G>A	ENST00000485713.1	+	14	3195	c.2155G>A	c.(2155-2157)Gcc>Acc	p.A719T	SLC4A2_ENST00000310317.5_Missense_Mutation_p.A637T|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A705T|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A719T|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A710T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	719	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTACTTTGCCGCCCTGTCTCC	0.642000													14	45					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398153	77398153	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:77398153C>T	ENST00000282849.5	-	5	1322	c.904G>A	c.(904-906)Gac>Aac	p.D302N		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	302	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTTTCTTGTCTGCCACCACG	0.478000													38	50					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505242	70505242	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:70505242A>G	ENST00000310961.5	+	22	4054	c.3636A>G	c.(3634-3636)acA>acG	p.T1212T	LRRC7_ENST00000415775.2_Silent_p.T491T|LRRC7_ENST00000035383.5_Silent_p.T1207T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1207						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCTACAGTACAGAGAGTTACG	0.458000													11	13					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120509467	120509467	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:120509467C>T	ENST00000397558.2	+	5	951	c.951C>T	c.(949-951)tcC>tcT	p.S317S	CCDC64_ENST00000446727.2_Silent_p.S61S	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	317					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCGTCTCTCCTGCCGACAGC	0.527000													18	29					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50339806	50339806	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:50339806C>T	ENST00000376020.2	-	9	4396	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	SHROOM4_ENST00000289292.7_Missense_Mutation_p.M1457I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.M1341I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1457	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGCAGATTTCATCTTGACAA	0.542000													12	5					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80511759	80511759	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:80511759G>A	ENST00000265080.4	+	24	3486	c.3419G>A	c.(3418-3420)aGa>aAa	p.R1140K	CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1140	Ras-GEF.				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)		AAAAATCTTAGAGAAACCCTT	0.259000													6	27					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7548916	7548916	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7548916C>T	ENST00000313599.3	-	8	1882	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D609N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D619N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	609	SRCR 6.					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						CAGCCGTCATCACACACTGTG	0.572000													12	25					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127563717	127563717	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:127563717G>A	ENST00000373580.3	+	5	694	c.694G>A	c.(694-696)Gac>Aac	p.D232N	OLFML2A_ENST00000288815.5_Missense_Mutation_p.D18N	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	232										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AAAAGGCAAGGACATCAGCAA	0.517000													22	52					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957612	50957612	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50957612G>A	ENST00000357701.5	+	18	2051	c.2000G>A	c.(1999-2001)gGg>gAg	p.G667E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	667	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TACGATGGGGGGAAGCCAGTC	0.537000													18	45					0	0	1	0	0
SNRPA1	6627	broad.mit.edu	37	15	101825959	101825959	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:101825959G>A	ENST00000254193.6	-	7	659	c.587C>T	c.(586-588)cCa>cTa	p.P196L		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	196						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTGGAGATGGCCCACCTTT	0.428000													29	50					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322726	55322726	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55322726C>T	ENST00000314644.2	+	1	944	c.944C>T	c.(943-945)cCa>cTa	p.P315L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ACACGACCTCCATCTGCTTTT	0.393000										HNSCC(20;0.049)			48	104					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928639	10928639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:10928639C>T	ENST00000283141.6	+	18	1740	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	482						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			gccatagcttcagccggtccc	0.448000													25	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466502	179466502	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179466502C>T	ENST00000589042.1	-	286	55539	c.55315G>A	c.(55315-55317)Gaa>Aaa	p.E18439K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9374K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16798K|TTN_ENST00000342992.6_Missense_Mutation_p.E15871K|TTN_ENST00000342175.6_Missense_Mutation_p.E9566K|TTN_ENST00000359218.5_Missense_Mutation_p.E9499K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16798	Ig-like 106.						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)			GAGGAGTTTTCAGCAGTCTCC	0.328000													22	49					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76513417	76513417	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:76513417C>T	ENST00000307431.8	+	13	2246	c.1861C>T	c.(1861-1863)Cta>Tta	p.L621L	CNTNAP4_ENST00000476707.1_Silent_p.L625L|CNTNAP4_ENST00000478060.1_Silent_p.L549L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L573L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	622	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACCATTTCTTCTATATTGCAA	0.338000													23	59					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164029	139164029	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:139164029G>A	ENST00000395297.1	-	13	2859	c.2689C>T	c.(2689-2691)Cat>Tat	p.H897Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	897										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTGCTCTATGAAGAGATCTG	0.473000										HNSCC(54;0.14)			85	26					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36315815	36315815	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:36315815C>T	ENST00000373210.3	+	16	2478	c.2233C>T	c.(2233-2235)Cca>Tca	p.P745S	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		CATCACACATCCATCTGAGTT	0.388000													58	83					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844280	5844280	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:5844280C>T	ENST00000303225.6	-	3	1205	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FUT3_ENST00000589620.1_Missense_Mutation_p.E191K|FUT3_ENST00000589918.1_Missense_Mutation_p.E191K|FUT3_ENST00000458379.2_Missense_Mutation_p.E191K	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	191					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCCACCAGCTCGGTCTTGGCC	0.667000													10	27					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245276	46245276	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:46245276C>T	ENST00000296140.3	-	2	654	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	177					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGAGTGAATTCCCATTGGGTC	0.512000													16	50					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921780	78921780	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:78921780G>A	ENST00000261751.3	-	5	978	c.867C>T	c.(865-867)tcC>tcT	p.S289S	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	289					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GCACATCGAGGGAGGTGGGTG	0.567000													22	40					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825340	4825340	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4825340G>A	ENST00000380382.1	-	1	507	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.H91Y			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATGAGCATGAAACCAGAAT	0.527000													27	60					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187696	152187696	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152187696C>T	ENST00000368801.2	-	3	6484	c.6409G>A	c.(6409-6411)Ggc>Agc	p.G2137S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2137					keratinization		calcium ion binding|protein binding	p.G2137C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCTAGAGCCGTGTTGTCCG	0.562000													49	1351					0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357741	46357741	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:46357741G>A	ENST00000400405.2	-	2	693	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	196					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GAAGCAGTCGGCCTGGGTGGG	0.592000													10	12					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37105146	37105146	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:37105146G>A	ENST00000263918.4	-	10	1219	c.1211C>T	c.(1210-1212)tCt>tTt	p.S404F	STRN_ENST00000379213.2_Missense_Mutation_p.S355F	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	404					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTTTCCAGAAGAAGGAGGAAA	0.433000													48	115					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300864	18300864	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:18300864G>A	ENST00000441493.2	-	26	4915	c.4563C>T	c.(4561-4563)ccC>ccT	p.P1521P		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1521						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CATCAGCAAAGGGAATCTCCT	0.642000													4	20					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105573340	105573340	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:105573340C>T	ENST00000314641.5	-	4	681	c.465G>A	c.(463-465)ttG>ttA	p.L155L	BVES_ENST00000336775.5_Silent_p.L155L|BVES_ENST00000446408.2_Silent_p.L155L	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	155					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GGCCCTTTTTCAAGGTTTGGA	0.433000													56	45					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510382	71510382	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:71510382G>A	ENST00000396073.3	+	9	3520	c.3239G>A	c.(3238-3240)aGc>aAc	p.S1080N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1080					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGAAGGCAAAGCCCATTTGAT	0.423000													30	57					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1231121	1231121	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:1231121G>A	ENST00000354700.5	-	18	1902	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	ACAP3_ENST00000353662.3_Missense_Mutation_p.S525F	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	567					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CCCACCTGAGGACAGAGCGGC	0.716000													6	8					0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76201782	76201782	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:76201782C>T	ENST00000409257.5	+	9	797	c.743C>T	c.(742-744)tCc>tTc	p.S248F	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.S248F|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000589664.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	248						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CAGTTCGACTCCCCCGAATTC	0.607000													19	34					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71305235	71305235	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:71305235C>T	ENST00000260382.5	+	14	1946	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S	LRRC49_ENST00000443425.2_Silent_p.S518S|LRRC49_ENST00000560369.1_Silent_p.S567S|LRRC49_ENST00000544974.2_Silent_p.S552S|LRRC49_ENST00000560158.2_Silent_p.S250S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Silent_p.S268S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	562						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCTGATTTCCATTCTGGGTG	0.373000													34	67					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767811	77767811	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:77767811G>A	ENST00000521891.2	+	10	9102	c.8654G>A	c.(8653-8655)aGc>aAc	p.S2885N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2840N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2840N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2859N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2840						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)			CACGACCAAAGCTTTTACATC	0.527000										HNSCC(33;0.089)			10	22					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37145561	37145561	+	Missense_Mutation	SNP	G	G	T	rs116602527	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:37145561G>T	ENST00000361487.6	+	4	1155	c.930G>T	c.(928-930)ttG>ttT	p.L310F	PAX9_ENST00000402703.2_Missense_Mutation_p.L310F|PAX9_ENST00000554201.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	310					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GCACCTCATTGTCTCCCCACA	0.572000													64	103					7.31121e-38	7.45637e-38	1	1	0
APC2	10297	broad.mit.edu	37	19	1461050	1461050	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:1461050C>T	ENST00000535453.1	+	12	3249	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	APC2_ENST00000238483.4_Silent_p.I238I|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.I512I			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	512					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		TGTCCAGCATCCTTCGGAACT	0.637000													64	77					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229527	7229527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7229527C>T	ENST00000379938.2	+	10	1732	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q399*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q399*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q399*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	399					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACTCAAGTGTCAGCTACCTCA	0.617000													44	19					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368697	22368697	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:22368697G>A	ENST00000332663.2	+	1	220	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTACCAGGAAATATCCTT	0.413000													92	412					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62041996	62041996	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:62041996C>T	ENST00000578147.1	-	9	1360	c.1284G>A	c.(1282-1284)gtG>gtA	p.V428V	SCN4A_ENST00000435607.1_Silent_p.V428V			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	428					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGATGATGACCACGAAGAAGA	0.577000													7	9					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79402010	79402010	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:79402010G>A	ENST00000370742.3	-	7	910	c.847C>T	c.(847-849)Cca>Tca	p.P283S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	283					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTTCTCTTTGGAAATATATTT	0.274000													39	84					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407958	28407958	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:28407958G>A	ENST00000394835.3	+	17	3577	c.3385G>A	c.(3385-3387)Gaa>Aaa	p.E1129K	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E1005K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1129							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGATCCCCACGAAATAAACAT	0.403000													18	34					0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770602	152770602	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152770602G>A	ENST00000326233.6	+	2	375	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	111	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCACTCTGGAGGCTGCTGC	0.612000													28	75					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42235978	42235978	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:42235978G>A	ENST00000541110.1	-	5	1919	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	TRERF1_ENST00000372917.4_Missense_Mutation_p.R451C|TRERF1_ENST00000340840.2_Missense_Mutation_p.R451C|TRERF1_ENST00000354325.2_Missense_Mutation_p.R451C|TRERF1_ENST00000372922.4_Missense_Mutation_p.R451C			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	451	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGAGGGGGCGATGGGGGAGG	0.637000													54	72					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106821067	106821067	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:106821067C>T	ENST00000228347.4	+	13	1416	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A	POLR3B_ENST00000539066.1_Silent_p.A340A	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	398					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAAGAGCAGCCCAGTTTGATG	0.373000													35	57					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752115	62752115	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:62752115G>A	ENST00000377871.3	-	1	314	c.48C>T	c.(46-48)ttC>ttT	p.F16F	SLC22A6_ENST00000421062.2_Silent_p.F16F|SLC22A6_ENST00000458333.2_Silent_p.F16F|SLC22A6_ENST00000360421.4_Silent_p.F16F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	16					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGATCTGCTGGAAGCGGCCGA	0.647000													4	10					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011861	46011861	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:46011861A>G	ENST00000400368.1	-	1	525	c.505T>C	c.(505-507)Tcc>Ccc	p.S169P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	169	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACGAAGAGGAAATCCCAGAG	0.642000													62	58					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835429	38835429	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38835429C>T	ENST00000449082.2	-	1	72	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	25					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATTTGCTTCTCTATCTCCACC	0.483000													40	82					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760578	176760578	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:176760578G>A	ENST00000367662.3	+	19	6144	c.4980G>A	c.(4978-4980)ctG>ctA	p.L1660L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1660	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTCAGAGCTGAATTCTGTGG	0.443000													34	51					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247208	10247208	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10247208G>A	ENST00000418404.3	-	15	1966	c.1803C>T	c.(1801-1803)gaC>gaT	p.D601D	MYH13_ENST00000570743.1_Silent_p.D601D|MYH13_ENST00000252172.4_Silent_p.D601D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	601	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGTTCAGGGGGTCCTTGTTTT	0.547000													26	37					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842262	123842262	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:123842262G>A	ENST00000369005.1	+	4	587	c.247G>A	c.(247-249)Gac>Aac	p.D83N	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.D83N|TACC2_ENST00000515603.1_Missense_Mutation_p.D83N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.D83N|TACC2_ENST00000453444.2_Missense_Mutation_p.D83N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	83						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCAAGGAAGGACCCACAGGG	0.632000													23	45					0	0	1	0	0
ZNF500	26048	broad.mit.edu	37	16	4802926	4802926	+	Silent	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4802926G>T	ENST00000219478.6	-	6	1193	c.894C>A	c.(892-894)gtC>gtA	p.V298V	ZNF500_ENST00000545009.1_Silent_p.V298V|ZNF500_ENST00000591026.1_5'UTR			O60304	ZN500_HUMAN	zinc finger protein 500	298					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCAAGCCCCTGACTGGGGCTG	0.672000													15	32					7.07596e-05	7.10294e-05	1	1	0
C9	735	broad.mit.edu	37	5	39288904	39288904	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:39288904C>T	ENST00000263408.4	-	10	1661	c.1566G>A	c.(1564-1566)atG>atA	p.M522I		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	522	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACTTTCCATCCATTAGAATCA	0.353000													45	75					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789947	133789947	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:133789947G>A	ENST00000321016.8	-	18	3903	c.3673C>T	c.(3673-3675)Cgc>Tgc	p.R1225C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1225C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1225	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCCCGGGCGAGGCCGGGCA	0.677000													9	22					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596163	161596163	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:161596163C>T	ENST00000294800.3	-	4	622	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	FCGR3B_ENST00000367964.2_Missense_Mutation_p.V117M|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.V153M|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	117					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCTTGAACACCCACCGAGGG	0.552000													9	2					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922323	13922323	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13922323C>T	ENST00000265104.4	-	5	657	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	185	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCTCGAGCTCGCCCCAGCCA	0.572000									Kartagener syndrome				15	33					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230898459	230898459	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:230898459G>A	ENST00000354537.1	+	4	545	c.463G>A	c.(463-465)Gac>Aac	p.D155N	CAPN9_ENST00000366666.2_Missense_Mutation_p.D92N|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.D155N	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	155	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CACCTTCAGGGACCGCTTGGT	0.572000													20	20					0	0	1	0	0
HMGN3	9324	broad.mit.edu	37	6	79912032	79912032	+	Splice_Site	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:79912032A>G	ENST00000275036.7	-	5	349		c.e5+1		HMGN3_ENST00000344726.5_Silent_p.G74G	NM_138730.2	NP_620058.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3						chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		ATGGTGCAGTACCTTCCTTTC	0.413000													54	39					0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90499756	90499756	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:90499756C>T	ENST00000404190.1	+	7	820	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	274					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTGCAGAGTCGCTTGGATGT	0.388000													18	25					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012767	29012767	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29012767G>A	ENST00000377175.1	-	1	250	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AATTTCTGAGGAAAAAGTACA	0.433000													66	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068444	9068444	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9068444G>A	ENST00000397910.4	-	3	19205	c.19002C>T	c.(19000-19002)atC>atT	p.I6334I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6336	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						AGGTGGAAGTGATAACTACTG	0.453000													13	42					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21147718	21147718	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:21147718G>A	ENST00000261383.3	-	6	812	c.813C>T	c.(811-813)ttC>ttT	p.F271F	DNAH3_ENST00000415178.1_Silent_p.F271F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	271	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGCTCCAGGAAGGGACTCG	0.512000													39	84					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517793	176517793	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:176517793G>A	ENST00000292408.4	+	4	648	c.403G>A	c.(403-405)Gac>Aac	p.D135N	FGFR4_ENST00000502906.1_Missense_Mutation_p.D135N|FGFR4_ENST00000393648.2_Missense_Mutation_p.D135N|FGFR4_ENST00000393637.1_Missense_Mutation_p.D135N|FGFR4_ENST00000292410.3_Missense_Mutation_p.D135N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	135					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.D135N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GTCCCATAGGGACCCCTCGAA	0.562000										TSP Lung(9;0.080)			16	40					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75086573	75086573	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75086573G>A	ENST00000326665.5	-	8	1063	c.845C>T	c.(844-846)tCc>tTc	p.S282F	C1orf173_ENST00000420661.2_Missense_Mutation_p.S85F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	282										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACTATGTAAGGATGTTTTATG	0.323000													9	18					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306845	54306845	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54306845C>T	ENST00000545554.1	+	1	1745	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S582L|UNC13C_ENST00000260323.11_Missense_Mutation_p.S582L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	582					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGTCATCTTCGGACCGGGAG	0.448000													9	20					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100463110	100463110	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100463110G>A	ENST00000326581.4	+	9	1286	c.924G>A	c.(922-924)atG>atA	p.M308I		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	308										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GAAATAATATGAAAATACCTG	0.388000													4	32					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559726	20559726	+	Missense_Mutation	SNP	C	C	T	rs138313532	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:20559726C>T	ENST00000329697.6	-	7	1132	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ACSM2B_ENST00000565232.1_Missense_Mutation_p.D322N|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D322N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D243N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	322					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGGAAAGATCCTGCTGTAGC	0.493000													33	59					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129244015	129244015	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:129244015C>T	ENST00000305031.4	+	2	1406	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	350						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGATGCGTTCGCCGTTTTGG	0.438000													22	37					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642978	1642978	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:1642978C>T	ENST00000399682.1	-	1	390	c.346G>A	c.(346-348)Ggt>Agt	p.G116S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	116	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCTTGGAACCCCCACAGGAG	0.662000													26	68					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6623341	6623341	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:6623341G>A	ENST00000264670.6	-	5	834	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.R140W|NSUN2_ENST00000505264.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	175						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TGATGAGGCCGCACGTTGAGG	0.408000													3	81					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76757090	76757090	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:76757090C>T	ENST00000536229.3	+	3	3765	c.3056C>T	c.(3055-3057)gCc>gTc	p.A1019V	SALL3_ENST00000537592.2_Missense_Mutation_p.A1224V|SALL3_ENST00000575389.2_Missense_Mutation_p.A1152V			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AACGGGCTCGCCATGAAGAAC	0.597000													90	72					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230548	29230548	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29230548G>A	ENST00000441381.1	+	0	79																											CCCTCATCCTGAGATGGACTG	0.428000													18	69					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8145963	8145963	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8145963G>A	ENST00000600128.1	-	59	7791	c.7377C>T	c.(7375-7377)ttC>ttT	p.F2459F	FBN3_ENST00000601739.1_Silent_p.F2459F|FBN3_ENST00000270509.2_Silent_p.F2459F			Q75N90	FBN3_HUMAN	fibrillin 3	2459	EGF-like 40; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGACACAGAGGAACTGACAGT	0.657000													14	39					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55109502	55109502	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:55109502G>A	ENST00000505374.1	+	19	1709	c.1615_splice	c.e19-1	p.G539_splice	DDX4_ENST00000354991.5_Splice_Site_p.G505_splice|DDX4_ENST00000511853.1_Splice_Site_p.G390_splice|DDX4_ENST00000514278.2_Splice_Site_p.G519_splice|DDX4_ENST00000353507.5_Splice_Site_p.G505_splice	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	539	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GTCTTGTAGGGGATGAAAGAA	0.308000													31	69					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131030734	131030734	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:131030734G>A	ENST00000421699.2	-	3	289	c.277C>T	c.(277-279)Cct>Tct	p.P93S		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	93						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTGGCACCAGGGGAAGGGACA	0.562000													14	24					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997664	118997664	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:118997664C>T	ENST00000328252.3	+	7	2849	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	827					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGAACATCTCCCTGGGTCCT	0.522000													9	23					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52531719	52531719	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:52531719T>G	ENST00000242839.4	-	9	2536	c.2380A>C	c.(2380-2382)Aaa>Caa	p.K794Q	ATP7B_ENST00000418097.2_Missense_Mutation_p.K794Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.K632Q|ATP7B_ENST00000417240.2_Missense_Mutation_p.K66Q|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.K683Q|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.K716Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	794					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GACATGAGTTTAGCCAGGGCT	0.463000									Wilson disease				25	51					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827874	52827874	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:52827874G>A	ENST00000252245.5	-	1	435	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	72	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCCATTGATGGAGACCCGCTT	0.622000													26	47					0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3557238	3557238	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:3557238G>A	ENST00000355415.2	-	1	333	c.164C>T	c.(163-165)tCc>tTc	p.S55F	MFSD12_ENST00000398558.4_Missense_Mutation_p.S55F|MFSD12_ENST00000591878.1_Intron|MFSD12_ENST00000389395.3_Missense_Mutation_p.S55F|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	55					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CGCGCCGCGGGAGCTGTAGGC	0.716000													4	11					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70512721	70512721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70512721C>T	ENST00000381269.2	-	8	3480	c.2727G>A	c.(2725-2727)tgG>tgA	p.W909*	SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.W903*|SLC8A3_ENST00000394330.2_Nonsense_Mutation_p.W266*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.W906*|SLC8A3_ENST00000216568.7_Nonsense_Mutation_p.W280*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.W907*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.W907*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	909					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGTAGAGGAGCCACAGGCTCA	0.592000											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52988355	52988355	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:52988355A>G	ENST00000394752.3	-	3	483	c.101T>C	c.(100-102)gTt>gCt	p.V34A	SFMBT1_ENST00000470575.1_5'UTR|SFMBT1_ENST00000296295.6_Missense_Mutation_p.V34A|SFMBT1_ENST00000358080.2_Missense_Mutation_p.V34A|SFMBT1_ENST00000394750.1_Missense_Mutation_p.V34A	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	34	Antigenic epitope.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CCCATAGGGAACTGCTGTGGA	0.348000													32	76					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118968536	118968536	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:118968536C>T	ENST00000515256.1	+	2	336	c.164C>T	c.(163-165)tCc>tTc	p.S55F				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	55						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACTTCTACCTCCGAATACTGC	0.552000													52	22					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562252	145562252	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:145562252C>T	ENST00000355594.4	+	10	2027	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	647										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCTACAGTCCCTGAGCCAG	0.592000													21	38					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699150	49699150	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:49699150C>T	ENST00000303221.5	-	6	954	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Missense_Mutation_p.E193K|EMB_ENST00000514111.1_Missense_Mutation_p.E197K	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	247	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ATGTGTTCTTCACTCTCGCCT	0.443000													22	55					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319015	123319015	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:123319015C>T	ENST00000275162.4	+	2	1428	c.93C>T	c.(91-93)atC>atT	p.I31I	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	31					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACCAGGACATCCAGGAGGTGA	0.547000													15	16					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524582	35524582	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35524582C>T	ENST00000262631.5	+	3	524	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000415950.3_Silent_p.F129F	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	129	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCTCTTCTTCGAAAACTACG	0.552000													40	52					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32091181	32091181	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:32091181G>A	ENST00000438447.1	+	20	8015	c.7627G>A	c.(7627-7629)Gga>Aga	p.G2543R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2543R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2543					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGTCCAGGAGGAAGTGGCCC	0.577000													20	28					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159857785	159857785	+	Missense_Mutation	SNP	C	C	T	rs140567807		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:159857785C>T	ENST00000426543.2	-	5	634	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R145Q			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	145						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GATCTTCTTTCGTGTCATCAC	0.552000													32	56					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111417562	111417562	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:111417562G>A	ENST00000535254.1	-	10	1276	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	BUB1_ENST00000409311.1_Silent_p.I423I|BUB1_ENST00000302759.6_Silent_p.I423I	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	423					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TACCTTCTTTGATCTCTGCTC	0.378000													20	37					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4609094	4609094	+	Silent	SNP	G	G	A	rs139603676	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4609094G>A	ENST00000312614.4	+	1	1074	c.1052G>A	c.(1051-1053)tGa>tAa	p.*351*		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGTTCATGAACACAATAT	0.423000													44	85					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46600951	46600951	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:46600951C>T	ENST00000398637.5	-	8	1244	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	SLC38A1_ENST00000549049.1_Missense_Mutation_p.E184K|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E184K|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E184K|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E184K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	184					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AATGTCTCTTCCTTTCCCATT	0.303000													11	31					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45846987	45846987	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:45846987T>C	ENST00000397928.1	+	27	4412	c.3967T>C	c.(3967-3969)Ttg>Ctg	p.L1323L	TRPM2_ENST00000300481.9_Intron|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.L1373L|TRPM2_ENST00000300482.5_Silent_p.L1323L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1323						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCAGGCCGGGTTGCCCCTGTG	0.652000													4	2					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469216	10469216	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:10469216C>T	ENST00000382483.3	-	4	2615	c.2392G>A	c.(2392-2394)Gac>Aac	p.D798N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	798					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGAGGCGTGTCCCTGGCCTCT	0.682000													29	15					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65108936	65108936	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:65108936G>A	ENST00000268043.4	-	12	1797	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F	PIF1_ENST00000559239.1_Missense_Mutation_p.S568F|PIF1_ENST00000333425.6_Missense_Mutation_p.S568F			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	568	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						ACGGCCCAGAGAAATCTCCAC	0.607000													16	36					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80730314	80730314	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:80730314C>T	ENST00000458043.2	+	39	4701	c.4695C>T	c.(4693-4695)atC>atT	p.I1565I	OTOGL_ENST00000547103.1_Silent_p.I1553I	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGCTCATATCGAAAAATGTT	0.328000													10	20					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9345244	9345244	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:9345244G>A	ENST00000261336.2	-	12	1374	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PZP_ENST00000381997.2_Missense_Mutation_p.S318F	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCCACTTAAGGAGAAAACACG	0.498000													23	35					0	0	1	0	0
SGTA	6449	broad.mit.edu	37	19	2759288	2759288	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:2759288G>A	ENST00000221566.2	-	9	865	c.704C>T	c.(703-705)tCg>tTg	p.S235L		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	235					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		CATTAGGTTCGAAGCCTGAAG	0.428000													46	72					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809359	48809359	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:48809359C>T	ENST00000309835.3	+	1	1597	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	STON1_ENST00000406226.1_Silent_p.S529S|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S529S|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S529S|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S529S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S529S|STON1_ENST00000404752.1_Silent_p.S529S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S529S					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCTTTTCCTTGAAGTCTG	0.453000													29	56					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78473204	78473204	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:78473204G>A	ENST00000258873.4	-	9	1351	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	ACSBG1_ENST00000541759.1_Silent_p.I140I|ACSBG1_ENST00000560817.1_Silent_p.I140I	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	382					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGCGCTCCATGATCTTCTCCC	0.627000													33	62					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741521	81741521	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81741521C>T	ENST00000550584.2	-	17	2318	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	PPFIA2_ENST00000548586.1_Missense_Mutation_p.E675K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E675K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E522K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E242K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E657K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E601K|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E576K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E675K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E657K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	601										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCACGCAACTCTGTAGATTCT	0.398000													26	33					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446988	10446988	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:10446988G>A	ENST00000326756.3	-	3	1403	c.965C>T	c.(964-966)cCt>cTt	p.P322L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGGCTGAACAGGTTCTTTTGC	0.413000													27	54					0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227540	56227540	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:56227540C>T	ENST00000341744.3	-	4	752	c.433G>A	c.(433-435)Gac>Aac	p.D145N	PMEPA1_ENST00000395816.3_Missense_Mutation_p.D95N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.D95N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.D110N|PMEPA1_ENST00000265626.4_Missense_Mutation_p.D95N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	145					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGTGGCAGGTCGATCTCGTGC	0.711000													4	8					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20506484	20506484	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:20506484C>T	ENST00000377252.3	+	11	2093	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.P369S	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	418	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTCTCAGTTTCCCACCAGCCT	0.438000													14	30					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847415	7847415	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:7847415A>C	ENST00000328375.1	-	1	104	c.105T>G	c.(103-105)taT>taG	p.Y35*	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTGACAACATAAATTCCTA	0.373000													15	55					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127753391	127753391	+	Silent	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:127753391G>C	ENST00000368679.4	-	14	1911	c.1602C>G	c.(1600-1602)gtC>gtG	p.V534V	ADAM12_ENST00000368676.4_Silent_p.V534V|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	534	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCCAGAGCGTGACACACTGCT	0.607000													4	13					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933302	43933302	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:43933302G>A	ENST00000537548.1	-	4	453	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MATN4_ENST00000360607.5_Missense_Mutation_p.A70V|MATN4_ENST00000353917.5_Missense_Mutation_p.A70V|MATN4_ENST00000372756.1_Missense_Mutation_p.A70V|MATN4_ENST00000342716.4_Missense_Mutation_p.A70V|MATN4_ENST00000372754.1_Missense_Mutation_p.A70V|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372753.1_Intron			O95460	MATN4_HUMAN	matrilin 4	70	VWFA 1.					extracellular region	protein binding	p.N69fs*3(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AACGCGCGTGGCGTTGGGACC	0.642000													10	19					0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129682000	129682000	+	Silent	SNP	G	G	A	rs145523376		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:129682000G>A	ENST00000368671.3	-	2	531	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	123						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TCGGCCCCAGGAATGTCTGGT	0.567000													27	54					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056341	9056341	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9056341T>G	ENST00000397910.4	-	3	31308	c.31105A>C	c.(31105-31107)Agc>Cgc	p.S10369R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10371	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGTGCTGCTCTCTGTCCCA	0.483000													23	40					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110191	17110191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:17110191C>T	ENST00000377833.4	-	21	2945	c.2880G>A	c.(2878-2880)tgG>tgA	p.W960*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	960	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTAATATATGCCAAGTACAGT	0.383000													41	83					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68197143	68197143	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:68197143C>T	ENST00000294304.7	+	17	3844	c.3738C>T	c.(3736-3738)ctC>ctT	p.L1246L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1246	EGF-like 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTCGTGCTCCTGCAGAACC	0.602000													40	65					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100504728	100504728	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100504728C>T	ENST00000422897.2	+	3	533	c.447C>T	c.(445-447)tcC>tcT	p.S149S	MTTP_ENST00000511045.1_Intron|MTTP_ENST00000457717.1_Intron|MTTP_ENST00000265517.5_Intron			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	0	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATTTTTCTTCCCTTCAGTAGA	0.343000													6	12					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255111	15255111	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:15255111C>T	ENST00000378116.4	-	8	2482	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	826						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCAGCTGGCCACCACTTCTC	0.647000													18	39					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47221559	47221559	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:47221559C>T	ENST00000319190.5	+	7	1275	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.P269S|TTC7A_ENST00000394850.2_Missense_Mutation_p.P303S|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	303							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTACTGGAGCCCCCTGTCCCA	0.607000													43	59					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67225861	67225861	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:67225861G>A	ENST00000438189.2	+	6	700	c.356G>A	c.(355-357)gGa>gAa	p.G119E	CABP4_ENST00000325656.5_Missense_Mutation_p.G224E			P57796	CABP4_HUMAN	calcium binding protein 4	224					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GACAGGGATGGACGAATTACG	0.602000													17	50					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48407424	48407424	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:48407424G>A	ENST00000435803.1	+	32	10746	c.10722G>A	c.(10720-10722)ctG>ctA	p.L3574L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3574					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTTCCACTGATAATGATGC	0.398000													2	1					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047148	9047148	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9047148G>A	ENST00000397910.4	-	5	34686	c.34483C>T	c.(34483-34485)Cct>Tct	p.P11495S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11497	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						GTCTCTGCAGGATGAATGAGC	0.512000													35	66					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44840909	44840909	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:44840909G>A	ENST00000270162.6	-	7	861	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	243	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TGAAGAAGGGGATGCGGAAGC	0.632000													6	11					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904243	12904243	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:12904243T>C	ENST00000380659.3	+	3	755	c.616T>C	c.(616-618)Tta>Cta	p.L206L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	206					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTTGACAAAGTTAAAAGTGCT	0.358000													18	10					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121976282	121976282	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:121976282G>A	ENST00000265922.3	-	6	1298	c.837C>T	c.(835-837)ccC>ccT	p.P279P	DBC1_ENST00000373964.2_Silent_p.P279P	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		279					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGTCCGTGATGGGGCAGTTGC	0.547000													26	62					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935700	56935700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56935700C>G	ENST00000333201.9	+	5	1883	c.1673C>G	c.(1672-1674)tCa>tGa	p.S558*	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Nonsense_Mutation_p.S558*	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ccctccacatcaaatcagttg	0.438000													4	8					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403374	179403374	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179403374C>T	ENST00000589042.1	-	354	99406	c.99182G>A	c.(99181-99183)gGa>gAa	p.G33061E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G23996E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G31420E|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G30493E|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G24188E|TTN_ENST00000359218.5_Missense_Mutation_p.G24121E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31420							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G23996E(1)|p.G24121E(1)|p.G30491E(1)|p.G24188E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCAAACCTCCTATTGTGAA	0.418000													73	102					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348560	10348560	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10348560G>A	ENST00000255381.2	-	36	5399	c.5289C>T	c.(5287-5289)atC>atT	p.I1763I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1763					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTACATCAGTGATGGCCTTCT	0.448000													48	80					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047352	9047352	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9047352C>T	ENST00000397910.4	-	5	34482	c.34279G>A	c.(34279-34281)Ggt>Agt	p.G11427S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11429	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						TCTGGCTCACCAGAAGAAAGA	0.458000													26	61					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901421	160901421	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:160901421C>T	ENST00000283243.7	-	2	563	c.357G>A	c.(355-357)agG>agA	p.R119R	PLA2R1_ENST00000392771.1_Silent_p.R119R	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	119	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGATCATCTTCCTGTTACAGC	0.522000													26	59					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63965651	63965651	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:63965651C>T	ENST00000398590.3	+	6	1113	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ATXN7_ENST00000295900.6_Missense_Mutation_p.S187F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S187F|ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000487717.1_Missense_Mutation_p.S187F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S42F	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	187	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGTATTTTCCTTCTTCCCT	0.458000													20	40					0	0	1	0	0
TRAV40	28641	broad.mit.edu	37	14	22783200	22783200	+	RNA	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:22783200T>A	ENST00000390467.3	+	0	166																											GTATGTGGAATACCCCAGCAA	0.478000													29	47					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40757307	40757307	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:40757307A>G	ENST00000298910.7	+	48	7190	c.7132A>G	c.(7132-7134)Aag>Gag	p.K2378E		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2378					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGTGTGGGATAAGAAAACTGA	0.363000													16	29					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519565	113519565	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:113519565C>T	ENST00000284601.3	-	4	1650	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	528					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTGTTTTTCATTAACACCT	0.348000													9	6					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100020194	100020194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:100020194C>A	ENST00000258428.3	-	19	3358	c.3130G>T	c.(3130-3132)Gag>Tag	p.E1044*	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Nonsense_Mutation_p.E1043*	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1044					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCTGTTCTCGCCCTGCCTT	0.498000								Direct reversal of damage					44	69					1.61742e-36	1.64873e-36	1	1	0
NYNRIN	57523	broad.mit.edu	37	14	24885848	24885848	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:24885848C>T	ENST00000382554.3	+	9	5211	c.4893C>T	c.(4891-4893)ggC>ggT	p.G1631G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1631	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGAGGAGGGCCATAAGCATG	0.597000													19	25					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873648	35873648	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:35873648G>A	ENST00000303115.3	+	5	733	c.604G>A	c.(604-606)Gag>Aag	p.E202K	IL7R_ENST00000506850.1_Missense_Mutation_p.E202K|IL7R_ENST00000343305.4_Missense_Mutation_p.E202K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	202	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.E202K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCAATGTATGAGATTAAAGT	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						20	27					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935454	30935454	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:30935454G>A	ENST00000355537.3	+	2	1132	c.985G>A	c.(985-987)Gcc>Acc	p.A329T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCCGAGTCGGCCCAGGGCCA	0.657000													50	73					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975956	20975956	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:20975956G>A	ENST00000261383.3	-	53	9249	c.9250C>T	c.(9250-9252)Cct>Tct	p.P3084S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3084	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCCCGTGAGGGTCAATCATT	0.478000													21	31					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17373620	17373620	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:17373620G>A	ENST00000252597.3	-	4	556	c.383C>T	c.(382-384)tCc>tTc	p.S128F	USHBP1_ENST00000431146.2_Missense_Mutation_p.S64F|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	128							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGCCTCCAGGGAGCTCAGAGT	0.657000													10	35					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91652971	91652971	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:91652971A>T	ENST00000375835.4	-	11	1899	c.1593T>A	c.(1591-1593)ttT>ttA	p.F531L	SHC3_ENST00000375830.1_Missense_Mutation_p.F79L|SHC3_ENST00000375831.1_Missense_Mutation_p.F79L	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	531	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCGTGAGGACAAAGGAGCCCG	0.632000													41	23					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768796	121768796	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:121768796T>C	ENST00000282561.3	+	2	960	c.803T>C	c.(802-804)tTc>tCc	p.F268S		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	268					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TATGCTTATTTCAATGGCTGC	0.527000													10	15					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171687681	171687681	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:171687681T>A	ENST00000358196.3	+	5	1076	c.526T>A	c.(526-528)Ttg>Atg	p.L176M	GAD1_ENST00000344257.5_Missense_Mutation_p.L176M|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.L176M	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	176					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGAGACACCTTGAAGTATGG	0.547000													28	94					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179506986	179506986	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179506986C>T	ENST00000589042.1	-	219	40760	c.40536G>A	c.(40534-40536)aaG>aaA	p.K13512K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.K4447K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.K11871K|TTN_ENST00000342992.6_Silent_p.K10944K|TTN_ENST00000342175.6_Silent_p.K4639K|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Silent_p.K4572K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11871	Ig-like 91.						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)			CAACTTCTTCCTTTGGTTCAG	0.313000													4	5					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88717214	88717214	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:88717214G>A	ENST00000372027.4	-	1	158	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	29						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGATCAGAGAGGCTAGTACTG	0.652000													25	41					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543421	178543421	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:178543421G>A	ENST00000432997.1	+	3	454	c.102G>A	c.(100-102)agG>agA	p.R34R	KCNMB2_ENST00000452583.1_Silent_p.R34R|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.R34R|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.R34R|RP11-385J1.2_ENST00000425330.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	34	Ball and chain.				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TGGACAAAAGGAAAACAGTCA	0.433000													34	91					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101336209	101336209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:101336209C>T	ENST00000392979.3	+	4	608	c.247C>T	c.(247-249)Cga>Tga	p.R83*	ANO4_ENST00000538618.1_Nonsense_Mutation_p.R284*|ANO4_ENST00000392977.3_Nonsense_Mutation_p.R118*|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	118						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						TGGAAAGTGTCGAATTGACTA	0.383000										HNSCC(74;0.22)			54	72					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130059738	130059738	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:130059738C>T	ENST00000278742.5	+	5	963	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	182					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTCATGCTGCCCCCGCGGGCG	0.667000													29	56					0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51410226	51410226	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51410226G>A	ENST00000324041.1	-	5	728	c.729C>T	c.(727-729)ttC>ttT	p.F243F	KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	243	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TCCACTCAGTGAATTTGCAGA	0.527000													37	84					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455032	179455032	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179455032G>A	ENST00000589042.1	-	304	61644	c.61420C>T	c.(61420-61422)Cca>Tca	p.P20474S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11409S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18833S|TTN_ENST00000342992.6_Missense_Mutation_p.P17906S|TTN_ENST00000342175.6_Missense_Mutation_p.P11601S|TTN_ENST00000359218.5_Missense_Mutation_p.P11534S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18833	Fibronectin type-III 48.						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)			TCTACTTCTGGAGGATGAAGG	0.428000													32	70					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97045486	97045486	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:97045486C>T	ENST00000524981.3	+	3	346	c.346C>T	c.(346-348)Cct>Tct	p.P116S				Q6ZTY8	CL063_HUMAN		90										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TAAAACATTTCCTATTAGCCA	0.383000													13	44					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383821	12383821	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:12383821C>T	ENST00000356109.5	-	5	1511	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	ZNF44_ENST00000355684.5_Missense_Mutation_p.G417R	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GGTTTCTCTCCAGTGTGAGTC	0.448000													14	41					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157049715	157049715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:157049715C>T	ENST00000348165.5	+	22	3418	c.3058C>T	c.(3058-3060)Cga>Tga	p.R1020*		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1020	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AAGCTGCTCTCGACCCCCTCT	0.423000													65	46					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940169	144940169	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:144940169G>A	ENST00000525985.1	-	2	7324	c.7253C>T	c.(7252-7254)tCt>tTt	p.S2418F				P58107	EPIPL_HUMAN	epiplakin 1	2418						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCACTGTAGAGAGAGAGAAAG	0.507000													11	0					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179192	90179192	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:90179192C>T	ENST00000370454.4	+	3	1318	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	355						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGAGTATGTCCGTCAGGAGAC	0.383000													16	22					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918682	21918682	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:21918682C>T	ENST00000240662.2	-	3	1595	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTTTGATTTCCTTCTGGAGT	0.423000													44	83					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44099258	44099258	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:44099258G>A	ENST00000272286.2	+	7	1198	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	370					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGATCTTGACGAGGACACCTG	0.557000													32	54					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15124517	15124517	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:15124517G>A	ENST00000292574.3	+	2	686	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	202					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GCTTACATGGGAGAAAGAGGA	0.473000													14	29					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819866	110819866	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:110819866G>A	ENST00000282356.4	+	11	1522	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.G375E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	375					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTCCAGAAGGAGAGAAAATT	0.532000													25	42					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759807	196759807	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196759807C>T	ENST00000312428.6	-	30	4889	c.4789G>A	c.(4789-4791)Gaa>Aaa	p.E1597K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1597	AAA 2 (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						ATCATCATTTCATATACTTGA	0.373000													18	33					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198685852	198685852	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:198685852G>A	ENST00000367376.2	+	13	1498	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	PTPRC_ENST00000352140.3_Missense_Mutation_p.D395N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D284N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D445N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D282N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	443	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GATCAAATATGATTTGCAAAA	0.318000													20	16					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20636748	20636748	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:20636748C>T	ENST00000219151.4	-	12	1687	c.477G>A	c.(475-477)ggG>ggA	p.G159G	ACSM1_ENST00000307493.4_Silent_p.G508G|ACSM1_ENST00000520010.1_Silent_p.G508G			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	508					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCTCACCTCCCCTCGAATCG	0.602000													8	24					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51295018	51295018	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51295018A>T	ENST00000270593.1	+	4	409	c.409A>T	c.(409-411)Agg>Tgg	p.R137W	ACPT_ENST00000270594.3_Intron	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	137						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGCCCGCTGGAGGCCGATCCC	0.697000													6	11					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764240	184764240	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:184764240G>A	ENST00000367511.3	-	14	2851	c.2658C>T	c.(2656-2658)gcC>gcT	p.A886A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	886					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CATGAATACGGGCTACCTTGA	0.562000													57	36					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221534	59221534	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:59221534G>A	ENST00000262717.4	+	12	2410	c.2012G>A	c.(2011-2013)gGc>gAc	p.G671D	CDH20_ENST00000538374.1_Missense_Mutation_p.G671D|CDH20_ENST00000536675.2_Missense_Mutation_p.G671D			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	671					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGGGCGGCGGCGAGGAGGAC	0.652000													42	107					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595364	55595364	+	Missense_Mutation	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55595364A>C	ENST00000378397.1	+	1	670	c.670A>C	c.(670-672)Act>Cct	p.T224P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AATTCTCACCACTATCCTGAA	0.488000										HNSCC(27;0.073)			43	105					0	0	1	0	0
RTCB	51493	broad.mit.edu	37	22	32794048	32794048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:32794048G>A	ENST00000216038.5	-	7	792	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	RTCB_ENST00000451746.2_Intron|RTCB_ENST00000476619.1_5'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		TCCACAACCTGGATTTCTGCA	0.403000													35	108					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844624	215844624	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:215844624C>T	ENST00000366943.2	-	64	14209	c.13823G>A	c.(13822-13824)cGa>cAa	p.R4608Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R4608Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4608	Fibronectin type-III 31.				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)		CGCTTGAATTCGTATTTCATA	0.418000										HNSCC(13;0.011)			26	42					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937353	152937353	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:152937353G>A	ENST00000393831.2	-	5	830	c.396C>T	c.(394-396)atC>atT	p.I132I	PNCK_ENST00000370142.1_Silent_p.I132I|PNCK_ENST00000370145.4_Silent_p.I149I|PNCK_ENST00000370150.1_Silent_p.I132I|PNCK_ENST00000340888.3_Silent_p.I132I|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Silent_p.I215I	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	132	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGTGCACGATCCCCAGGC	0.667000													7	3					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216348660	216348660	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216348660G>A	ENST00000366943.2	-	21	4947	c.4561C>T	c.(4561-4563)Cgt>Tgt	p.R1521C	USH2A_ENST00000366942.3_Missense_Mutation_p.R1521C|USH2A_ENST00000307340.3_Missense_Mutation_p.R1521C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1521	Laminin G-like 1.				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)		CCTATGAAACGGATTCCTTTC	0.433000										HNSCC(13;0.011)			10	23					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362277	9362277	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9362277C>T	ENST00000456448.1	+	1	672	c.558C>T	c.(556-558)tgC>tgT	p.C186C		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGCTCACCTGCTTCAAGGATG	0.403000													7	17					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306005	306005	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:306005C>T	ENST00000428720.1	-	11	1862	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	SLC6A12_ENST00000536824.1_Missense_Mutation_p.M373I|SLC6A12_ENST00000424061.2_Missense_Mutation_p.M373I|SLC6A12_ENST00000359674.4_Missense_Mutation_p.M373I|SLC6A12_ENST00000397296.2_Missense_Mutation_p.M373I	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	373					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATAAGGGCATCATAGTCACAG	0.607000													27	82					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188287	7188287	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:7188287C>T	ENST00000486284.1	+	2	942	c.668C>T	c.(667-669)aCc>aTc	p.T223I	GRM7_ENST00000402647.2_Missense_Mutation_p.T223I|GRM7_ENST00000357716.4_Missense_Mutation_p.T223I|GRM7_ENST00000403881.1_Missense_Mutation_p.T223I|GRM7_ENST00000389336.4_Missense_Mutation_p.T223I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	223					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TATGTGTCTACCCTCGCATCG	0.527000													26	42					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739516	55739516	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:55739516C>T	ENST00000370830.3	-	1	846	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	BMP5_ENST00000446683.2_Missense_Mutation_p.E50K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	50					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTGTATTTCCCGTCTTTCG	0.453000													94	71					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180586	124180586	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124180586G>A	ENST00000357821.2	-	1	147	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	26					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)		GAGGAAGAGGGGCAGCTGGAG	0.478000													58	111					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43709740	43709740	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:43709740C>T	ENST00000377564.3	+	2	569	c.176C>T	c.(175-177)tCa>tTa	p.S59L	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S59L	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	59	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCGGGGTTTTCAAGGCTTAAT	0.473000													11	17					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13935541	13935541	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:13935541C>T	ENST00000343495.5	-	13	2068	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	ETV1_ENST00000420159.2_Missense_Mutation_p.E404K|ETV1_ENST00000403685.1_Missense_Mutation_p.E444K|ETV1_ENST00000430479.1_Missense_Mutation_p.E462K|ETV1_ENST00000399357.3_Missense_Mutation_p.E359K|ETV1_ENST00000405192.2_Missense_Mutation_p.E439K|ETV1_ENST00000405358.4_Missense_Mutation_p.E476K|ETV1_ENST00000242066.5_Missense_Mutation_p.E444K|ETV1_ENST00000403527.1_Missense_Mutation_p.E422K|ETV1_ENST00000405218.2_Missense_Mutation_p.E462K			P50549	ETV1_HUMAN	ets variant 1	462					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGCCCCCTTCCGGCATGTAG	0.512000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								7	17					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124391389	124391389	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:124391389C>T	ENST00000338354.3	+	47	6084	c.5978C>T	c.(5977-5979)cCt>cTt	p.P1993L	DMBT1_ENST00000359586.6_Missense_Mutation_p.P713L|DMBT1_ENST00000368955.3_Missense_Mutation_p.P1983L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P1983L|DMBT1_ENST00000368909.3_Missense_Mutation_p.P1993L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1365L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1365L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1993					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTATCGACACCTGGTAAGTCC	0.498000													13	21					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950904	12950904	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:12950904G>A	ENST00000273221.4	-	11	2705	c.2489C>T	c.(2488-2490)tCt>tTt	p.S830F		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	830	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCGGGGACAGACGAGGTGAG	0.552000													26	59					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	984707	984707	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:984707G>C	ENST00000448903.2	+	7	909	c.768G>C	c.(766-768)tgG>tgC	p.W256C	AP2A2_ENST00000534328.1_Missense_Mutation_p.W256C|AP2A2_ENST00000332231.5_Missense_Mutation_p.W256C	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	256					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGCTCCCTGGCTGTCTGTCA	0.577000													50	135					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207195977	207195977	+	Missense_Mutation	SNP	C	C	T	rs149585923		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:207195977C>T	ENST00000359470.5	-	4	1381	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	C1orf116_ENST00000461135.2_Missense_Mutation_p.E132K	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	378						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCCCGTGTCTCCTTGGGTCTG	0.592000													22	50					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018411	36018411	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:36018411C>T	ENST00000452271.2	-	1	801	c.773G>A	c.(772-774)gGg>gAg	p.G258E	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	131						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCAAATCTCCCTGCCTCATT	0.632000													3	5					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21775320	21775320	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:21775320G>A	ENST00000328843.6	+	47	7555	c.7524G>A	c.(7522-7524)gaG>gaA	p.E2508E	DNAH11_ENST00000409508.3_Silent_p.E2501E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2508	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTTGCTTGAGAAAGGAAAAC	0.423000									Kartagener syndrome				10	7					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58524960	58524960	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:58524960G>A	ENST00000083182.3	-	13	2027	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	580					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TCGGTCCCTCGACATTCTGAG	0.488000													46	85					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377795	50377795	+	Silent	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:50377795A>C	ENST00000376020.2	-	4	1303	c.1278T>G	c.(1276-1278)ctT>ctG	p.L426L	SHROOM4_ENST00000289292.7_Silent_p.L426L|SHROOM4_ENST00000460112.3_Silent_p.L310L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	426					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCCTGGTATCAAGGTGCACAT	0.577000													9	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650797	179650797	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179650797C>T	ENST00000589042.1	-	14	2372	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	TTN_ENST00000460472.2_Silent_p.E670E|TTN_ENST00000360870.5_Silent_p.E716E|TTN_ENST00000591111.1_Silent_p.E716E|TTN_ENST00000342992.6_Silent_p.E716E|TTN_ENST00000342175.6_Silent_p.E670E|TTN_ENST00000359218.5_Silent_p.E670E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	716							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)			GCTCTCTGGGCTCTCTGACTC	0.507000													11	26					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54956639	54956639	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:54956639G>C	ENST00000173898.7	+	12	3594	c.3482G>C	c.(3481-3483)aGt>aCt	p.S1161T	TRO_ENST00000420798.2_Missense_Mutation_p.S692T|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S764T|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1161	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCTTTGGCAGTGCATCTAAT	0.557000													28	11					0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176885177	176885177	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:176885177G>A	ENST00000292385.5	-	13	2273	c.1664C>T	c.(1663-1665)tCc>tTc	p.S555F	DBN1_ENST00000393565.1_Missense_Mutation_p.S599F|DBN1_ENST00000512501.1_Missense_Mutation_p.S285F|DBN1_ENST00000393563.4_Missense_Mutation_p.S285F|DBN1_ENST00000309007.5_Missense_Mutation_p.S553F	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	553					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGCCAGGGACTCCCCTTC	0.642000													22	29					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:119866561G>A	ENST00000327554.2	+	2	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q|CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478000													3	13					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968542	87968542	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:87968542C>T	ENST00000307808.6	+	3	1254	c.834C>T	c.(832-834)tcC>tcT	p.S278S	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.S285S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	278						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CACCTCCCTCCCTCCCCTCAA	0.552000													65	110					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26513530	26513530	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:26513530G>A	ENST00000376261.3	+	6	1177	c.674G>A	c.(673-675)aGa>aAa	p.R225K	GAD2_ENST00000259271.3_Missense_Mutation_p.R225K|GAD2_ENST00000376248.1_Missense_Mutation_p.R111K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	225					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)	AAGAAAATGAGAGAAATCATT	0.388000													33	66					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25589743	25589743	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:25589743G>A	ENST00000269141.3	-	5	1063	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	CDH2_ENST00000399380.3_Missense_Mutation_p.P183S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	214	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCCGAGATGGGGTTGATAATG	0.488000													28	85					0	0	1	0	0
CCNYL2	414194	broad.mit.edu	37	10	42965547	42965547	+	RNA	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:42965547G>C	ENST00000483242.3	-	0	605					NR_103829.1				cyclin Y-like 2											breast(2)|endometrium(1)|lung(3)|ovary(1)	7						AAGTACTGAAGATGTGACCTC	0.423000													7	20					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541810	55541810	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55541810C>T	ENST00000361760.1	+	1	897	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I299I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACAAAGATATCAATAACATGT	0.338000													11	29					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722955	53722955	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53722955C>T	ENST00000536324.2	-	3	554	c.271G>A	c.(271-273)Gat>Aat	p.D91N	SP7_ENST00000537210.2_Missense_Mutation_p.D73N|SP7_ENST00000303846.3_Missense_Mutation_p.D91N	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGAGGGTAATCATTAGCATAG	0.577000													43	70					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155082	98155082	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:98155082C>T	ENST00000357947.3	-	13	1813	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	530	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCACTCTCTTCCGTGGGGCCA	0.527000													28	42					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139101119	139101119	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:139101119G>A	ENST00000358701.5	-	12	1589	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	518	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCACTCAGATGGCCTAGGAAG	0.622000													54	73					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47770481	47770481	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:47770481A>G	ENST00000371828.3	-	4	577	c.90T>C	c.(88-90)gcT>gcC	p.A30A	STAU1_ENST00000371856.2_Silent_p.A111A|STAU1_ENST00000371792.1_Silent_p.A30A|STAU1_ENST00000340954.7_Silent_p.A30A|STAU1_ENST00000347458.5_Silent_p.A30A|STAU1_ENST00000371802.1_Silent_p.A30A|STAU1_ENST00000360426.4_Silent_p.A30A	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	111						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCGGGGGATAAGCACCTCCTC	0.388000													9	23					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483645	26483645	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:26483645G>A	ENST00000295589.3	-	5	1096	c.902C>T	c.(901-903)tCc>tTc	p.S301F		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	301					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTTGGCTGCGGAGCTGTTACT	0.617000													34	74					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134147705	134147705	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:134147705C>T	ENST00000389887.5	+	3	2757	c.261C>T	c.(259-261)ttC>ttT	p.F87F	GLB1L3_ENST00000431683.2_Silent_p.F87F			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	87					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCCACAAGTTCCTGATCTTCG	0.572000													10	23					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70980795	70980795	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70980795C>T	ENST00000334414.6	-	9	2347	c.2303G>A	c.(2302-2304)gGa>gAa	p.G768E	PTPRB_ENST00000551525.1_Missense_Mutation_p.G767E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G460E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G550E|PTPRB_ENST00000261266.5_Missense_Mutation_p.G550E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G768E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G460E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	550	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCTGTTCTTCCTTTTACTGA	0.338000													13	37					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890850	70890850	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:70890850C>T	ENST00000264436.3	-	16	2332	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.E630K	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	630					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGCTTGTTTCTGTCTTCTTA	0.507000													8	15					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8591470	8591470	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8591470C>T	ENST00000338257.8	-	24	2904	c.2637G>A	c.(2635-2637)gtG>gtA	p.V879V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	879						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTCCTTCTTCACCCGAAACT	0.687000													2	0					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340980	121340980	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:121340980C>T	ENST00000338040.4	+	3	1118	c.704C>T	c.(703-705)tCa>tTa	p.S235L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	235					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACAAATTCATCAGCGAGCTGT	0.463000													12	17					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25670468	25670468	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:25670468G>A	ENST00000281589.3	+	1	169	c.132G>A	c.(130-132)agG>agA	p.R44R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	44	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GGATCTGCAGGGACTTGATCA	0.572000													18	70					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072509	17072509	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:17072509C>T	ENST00000359963.3	-	1	1191	c.932G>A	c.(931-933)gGc>gAc	p.G311D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	311					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CACCACGATGCCATACTTGTC	0.552000													55	243					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49855477	49855477	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:49855477C>T	ENST00000376088.3	+	14	2935	c.2294C>T	c.(2293-2295)cCc>cTc	p.P765L	CLCN5_ENST00000376091.3_Missense_Mutation_p.P765L|CLCN5_ENST00000307367.2_Missense_Mutation_p.P695L|CLCN5_ENST00000376108.3_Missense_Mutation_p.P695L	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	695					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GACCTTACACCCATGGAGATC	0.493000													33	12					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23239112	23239112	+	Silent	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:23239112A>T	ENST00000258742.5	+	6	904	c.645A>T	c.(643-645)gcA>gcT	p.A215A		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	215					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCAAGCAGCACCTGCATTTG	0.358000													36	68					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44180998	44180998	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:44180998C>T	ENST00000291539.6	+	13	1126	c.1066C>T	c.(1066-1068)Cat>Tat	p.H356Y	PDE9A_ENST00000380328.2_Missense_Mutation_p.H303Y|PDE9A_ENST00000328862.6_Missense_Mutation_p.H330Y|PDE9A_ENST00000398234.3_Missense_Mutation_p.H255Y|PDE9A_ENST00000398232.3_Missense_Mutation_p.H289Y|PDE9A_ENST00000335512.4_Missense_Mutation_p.H296Y|PDE9A_ENST00000398236.3_Missense_Mutation_p.H270Y|PDE9A_ENST00000398224.3_Missense_Mutation_p.H229Y|PDE9A_ENST00000335440.6_Missense_Mutation_p.H254Y|PDE9A_ENST00000398225.3_Missense_Mutation_p.H315Y|PDE9A_ENST00000398229.3_Missense_Mutation_p.H222Y|PDE9A_ENST00000539837.1_Missense_Mutation_p.H228Y|PDE9A_ENST00000398227.3_Missense_Mutation_p.H196Y|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000349112.3_Missense_Mutation_p.H228Y	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	356	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CGATCTGGACCATCCCGGCTA	0.493000													19	42					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922426	24922426	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:24922426C>T	ENST00000329468.2	+	1	1886	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GACCTTGTTCCCATTTTGGGT	0.488000													59	80					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116933447	116933447	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:116933447C>T	ENST00000537345.1	+	10	1629	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	ATP1A1_ENST00000295598.5_Silent_p.S422S|ATP1A1_ENST00000369496.4_Silent_p.S391S	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	422					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTGCTCTGTCCAGAATTGCAG	0.433000													43	79					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200974808	200974808	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:200974808C>T	ENST00000332129.2	-	4	778	c.462G>A	c.(460-462)gaG>gaA	p.E154E	KIF21B_ENST00000360529.5_Silent_p.E154E|KIF21B_ENST00000461742.2_Silent_p.E154E|KIF21B_ENST00000422435.2_Silent_p.E154E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	154	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTCAAGGATCTCCTCGTTGT	0.542000													49	77					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57007848	57007848	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:57007848G>A	ENST00000179765.5	-	5	914	c.715C>T	c.(715-717)Cct>Tct	p.P239S	BAZ2A_ENST00000549884.1_Missense_Mutation_p.P269S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P271S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P241S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	271					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGGTCAGGGACCAGGACT	0.488000													26	58					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161495082	161495082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:161495082G>A	ENST00000356592.3	+	1	537	c.77G>A	c.(76-78)tGg>tAg	p.W26*	GABRG2_ENST00000414552.2_Nonsense_Mutation_p.W26*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.W26*|GABRG2_ENST00000393933.4_5'UTR	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	26					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATGACGGTGTGGATTCTGCTC	0.488000													7	31					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300757	62300757	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:62300757G>A	ENST00000378024.4	-	5	1406	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	378					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)				TCAAGTGATGGCCCAGTGATT	0.597000													14	36					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141422	63141422	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:63141422C>T	ENST00000279178.3	+	4	967	c.718C>T	c.(718-720)Cct>Tct	p.P240S	SLC22A9_ENST00000310969.4_Missense_Mutation_p.P188L	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	240					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGGAATGTGCCCTTCTGGTAT	0.478000													12	44					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3839645	3839645	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:3839645G>A	ENST00000309890.7	-	16	2590	c.2440C>T	c.(2440-2442)Ctg>Ttg	p.L814L	ATP2A3_ENST00000397043.3_Silent_p.L814L|ATP2A3_ENST00000397035.3_Silent_p.L814L|ATP2A3_ENST00000352011.3_Silent_p.L814L|ATP2A3_ENST00000397041.3_Silent_p.L814L|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.L814L	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	814					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATGATGTCCAGGTCTGGCGGG	0.642000													33	53					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814626	106814626	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:106814626C>T	ENST00000407775.2	+	8	2566	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.S640S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.S503S|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.S640S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	772					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTTGTACCTCCACTCAAGAAC	0.463000													45	16					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522337	97522337	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:97522337C>G	ENST00000375315.2	+	1	272	c.272C>G	c.(271-273)tCa>tGa	p.S91*	C9orf3_ENST00000297979.5_Nonsense_Mutation_p.S91*|C9orf3_ENST00000277198.2_Nonsense_Mutation_p.S91*	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	91					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGGACCTTCTCATCTGAAATG	0.413000													29	27					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725439	41725439	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:41725439G>A	ENST00000400454.1	-	5	1364	c.887C>T	c.(886-888)tCc>tTc	p.S296F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	296	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTATCTGTTGGACACTTCACA	0.532000													45	77					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20065771	20065771	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:20065771G>A	ENST00000396085.1	+	13	3513	c.3152G>A	c.(3151-3153)aGg>aAg	p.R1051K	NAV2_ENST00000360655.4_Missense_Mutation_p.R987K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.R137K|NAV2_ENST00000396087.3_Missense_Mutation_p.R1074K|NAV2_ENST00000527559.2_Missense_Mutation_p.R1003K|NAV2_ENST00000533917.1_Missense_Mutation_p.R137K|NAV2_ENST00000540292.1_Missense_Mutation_p.R1005K|NAV2_ENST00000349880.4_Missense_Mutation_p.R1051K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1074						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCATGCCAAGGACGAAGCCT	0.582000													12	25					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39814834	39814834	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:39814834C>T	ENST00000216160.6	+	6	710	c.648C>T	c.(646-648)ttC>ttT	p.F216F	TAB1_ENST00000331454.3_Silent_p.F216F	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	216	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ATGAGCTCTTCCGTCTTTCGC	0.577000													26	96					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545313	28545313	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:28545313G>A	ENST00000401766.2	-	4	1033	c.521C>T	c.(520-522)tCc>tTc	p.S174F	SLC6A4_ENST00000261707.3_Missense_Mutation_p.S174F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	174					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTTGTAGTAGGAAGCAATGTA	0.547000													12	23					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152507129	152507129	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:152507129C>T	ENST00000397345.3	-	53	7388	c.7186G>A	c.(7186-7188)Gat>Aat	p.D2396N	NEB_ENST00000604864.1_Missense_Mutation_p.D2396N|NEB_ENST00000603639.1_Missense_Mutation_p.D2396N|NEB_ENST00000427231.2_Missense_Mutation_p.D2396N|NEB_ENST00000172853.10_Missense_Mutation_p.D2396N|NEB_ENST00000409198.1_Missense_Mutation_p.D2396N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2396					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)		TGCACAACATCGTTCTGATCA	0.388000													78	135					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4616188	4616188	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4616188G>A	ENST00000450052.2	+	2	992	c.992G>A	c.(991-993)gGa>gAa	p.G331E	OR52I1_ENST00000530443.2_Missense_Mutation_p.G307E			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGCTGGAGGGAATATGGAGT	0.468000													58	75					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181619	41181619	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:41181619C>T	ENST00000263413.3	-	7	1033	c.769G>A	c.(769-771)Gat>Aat	p.D257N	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.D257N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	257	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAAGTTAAATCCTTGTAGAAA	0.363000													11	27					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66918732	66918732	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:66918732C>T	ENST00000311765.2	+	2	879	c.545C>T	c.(544-546)cCc>cTc	p.P182L	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	182					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGCATGAAACCCTTGCTGCCC	0.547000													20	31					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60780970	60780970	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:60780970G>A	ENST00000313421.7	+	7	1412	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	CD6_ENST00000452451.2_Missense_Mutation_p.G409E|CD6_ENST00000352009.5_Missense_Mutation_p.G409E|CD6_ENST00000344028.5_Missense_Mutation_p.G409E|CD6_ENST00000346437.4_Missense_Mutation_p.G409E|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	409					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ATCGTTCTGGGAATTCTCCTC	0.458000													63	132					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153054170	153054170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:153054170G>A	ENST00000285900.5	+	6	1153	c.810G>A	c.(808-810)tgG>tgA	p.W270*	GRIA1_ENST00000521843.2_Nonsense_Mutation_p.W201*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.W280*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.W270*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.W190*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.W280*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	270					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCAGCAGTGGAAGAATAGTG	0.532000													39	67					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069988	57069988	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:57069988C>T	ENST00000532437.1	-	6	4939	c.4628G>A	c.(4627-4629)cGa>cAa	p.R1543Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1543Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1543	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTGGGAGGGTCGCCGAGAAGT	0.632000													7	14					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127327810	127327810	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:127327810G>A	ENST00000265056.7	+	8	1616	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	458					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGAACTGACCGATGAAGATGT	0.547000													48	60					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9066956	9066956	+	Missense_Mutation	SNP	G	G	A	rs146672079		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:9066956G>A	ENST00000383836.3	-	14	2094	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.S532F	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	556	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.S556F(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTCTCAAAGGAATTTTTGAT	0.478000			T	RAF1	pilocytic astrocytoma								30	52					0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	213384	213384	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:213384A>T	ENST00000526104.1	+	9	2785	c.1441A>T	c.(1441-1443)Atg>Ttg	p.M481L	RIC8A_ENST00000325207.5_Missense_Mutation_p.M487L|RIC8A_ENST00000527696.1_Missense_Mutation_p.M475L			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	481						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCACGAGGCCATGAAGCTGGT	0.592000													5	5					0	0	1	0	0
SH2B3	10019	broad.mit.edu	37	12	111856354	111856354	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:111856354C>T	ENST00000341259.2	+	2	762	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	135					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						ccTGCTCCTTCCAGCACTTTC	0.806000													5	10					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545157	28545157	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:28545157G>A	ENST00000401766.2	-	4	1189	c.677C>T	c.(676-678)tCc>tTc	p.S226F	SLC6A4_ENST00000261707.3_Missense_Mutation_p.S226F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	226					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TTCAGCAGGGGACGTGGAATG	0.547000													10	43					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940978	22940978	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:22940978G>A	ENST00000397104.3	-	5	1459	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S578L					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTAAGATGTGAAGATTGCTT	0.358000													24	56					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7459299	7459299	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7459299C>T	ENST00000399422.4	+	2	420	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	124					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TGCCCAGAATCCCTGAGTGGT	0.512000													6	10					0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160535389	160535389	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160535389G>A	ENST00000368054.3	-	2	228	c.193C>T	c.(193-195)Cca>Tca	p.P65S	CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.P65S|CD84_ENST00000311224.4_Missense_Mutation_p.P65S|CD84_ENST00000368048.3_Missense_Mutation_p.P65S	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	65					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GAGTCTCCTGGTGTTACATAA	0.423000													51	100					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597406	136597406	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:136597406C>T	ENST00000531224.1	-	5	1509	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Silent_p.Q417Q|BCLAF1_ENST00000527759.1_Silent_p.Q417Q|BCLAF1_ENST00000527536.1_Silent_p.Q419Q|BCLAF1_ENST00000353331.4_Silent_p.Q417Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	419					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACTTTTACCCTGATCTGCGA	0.418000													43	180					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117982457	117982457	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:117982457C>T	ENST00000534111.1	+	8	844	c.577_splice	c.e8-1	p.A193_splice	TMPRSS4_ENST00000437212.3_Splice_Site_p.A195_splice|TMPRSS4_ENST00000523251.1_Splice_Site_p.A155_splice|TMPRSS4_ENST00000522307.1_Splice_Site_p.A48_splice|TMPRSS4_ENST00000522824.1_Splice_Site_p.A190_splice	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	195	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGTGTCCAGCCTGTGGGAAGA	0.607000													7	14					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9532129	9532129	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:9532129T>A	ENST00000352665.5	+	9	1235	c.1166T>A	c.(1165-1167)aTc>aAc	p.I389N	WDR16_ENST00000299764.5_Missense_Mutation_p.I399N|WDR16_ENST00000396219.3_Missense_Mutation_p.I321N	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	389						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GGCAAAAGCATCATTTCAGGT	0.522000													32	66					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373490	5373490	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5373490C>T	ENST00000380219.1	+	1	753	c.753C>T	c.(751-753)gtC>gtT	p.V251V	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCTATGTCACTGTAGTTT	0.443000													46	91					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120180188	120180188	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:120180188G>A	ENST00000260264.4	+	10	1001	c.967G>A	c.(967-969)Gag>Aag	p.E323K	POU2F3_ENST00000543440.2_Missense_Mutation_p.E321K	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	321					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GTTGTCCATGGAGAAGGAGGT	0.532000													20	27					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22848105	22848105	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:22848105C>T	ENST00000404138.1	+	16	3676	c.3165C>T	c.(3163-3165)ttC>ttT	p.F1055F	ZBTB40_ENST00000375647.4_Silent_p.F1055F|ZBTB40_ENST00000374651.4_Silent_p.F943F	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1055					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACAAAACCTTCCCCAACACCA	0.542000													45	91					0	0	1	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744195	31744195	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:31744195C>T	ENST00000399889.2	-	1	362	c.337G>A	c.(337-339)Gga>Aga	p.G113R		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	113						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CTCCTCGATCCATAGCCCAGG	0.582000													12	20					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381435	81381435	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:81381435C>T	ENST00000423064.2	-	5	759	c.626G>A	c.(625-627)gGt>gAt	p.G209D	HGF_ENST00000453411.1_Splice_Site|HGF_ENST00000457544.2_Splice_Site|HGF_ENST00000444829.2_Splice_Site|HGF_ENST00000222390.5_Splice_Site	NM_001010934.1	NP_001010934.1	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	0					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGTTTATTTACCTTCTGAACA	0.438000													17	45					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731490	21731490	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:21731490C>T	ENST00000578713.1	+	2	569	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGAAGGCATCCCCCCCGATCA	0.537000													16	25					0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41197258	41197258	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:41197258G>A	ENST00000341495.2	+	3	498		c.e3-1		TREML4_ENST00000448827.2_Splice_Site	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4							extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTTCTCTTTAGCCCCAACCAC	0.572000													122	168					0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484149	152484149	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:152484149C>T	ENST00000334269.2	+	2	315	c.139C>T	c.(139-141)Cca>Tca	p.P47S		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	47	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGCCCACCTCCAGTCTCTTC	0.622000													26	54					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134671205	134671205	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:134671205C>T	ENST00000368586.5	-	39	5563	c.5463G>A	c.(5461-5463)gaG>gaA	p.E1821E	TTC40_ENST00000263170.5_5'UTR	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	486										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCCCTTCTTCCTCAGCTACGG	0.537000													8	10					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24718051	24718051	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:24718051C>T	ENST00000314328.9	+	5	1388	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S368F|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S368F|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.S368F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	368					cell cycle|cell division			p.S368F(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GCACCATCCTCCTCAGAGTCG	0.572000													38	34					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054186	29054186	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29054186G>A	ENST00000377173.2	-	1	904	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGGATGTGATGATTCCATAGA	0.413000													58	28					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24231681	24231681	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:24231681G>A	ENST00000396671.2	-	5	515	c.167C>T	c.(166-168)cCa>cTa	p.P56L	THRB_ENST00000416420.1_Missense_Mutation_p.P56L|THRB_ENST00000356447.4_Missense_Mutation_p.P56L	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	56	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GATGAGATGTGGCGACGACTG	0.502000													30	58					0	0	1	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107282870	107282870	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:107282870C>T	ENST00000390639.2	-	0	326																											CAGAGGTGTCCATGGAGAAGA	0.537000													22	59					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768283	117768283	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:117768283C>T	ENST00000317775.6	-	2	1277	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	NOS1_ENST00000338101.4_Missense_Mutation_p.G198S|NOS1_ENST00000344089.3_Missense_Mutation_p.G198S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	198	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				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)	TCCCCTCTGCCTTGGAGGCTG	0.642000													54	94					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141214153	141214153	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141214153C>T	ENST00000389484.3	-	62	10805	c.9834G>A	c.(9832-9834)atG>atA	p.M3278I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3278					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.M3278I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTATTTATCATGCAGAGAT	0.373000										TSP Lung(27;0.18)			34	48					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227915704	227915704	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:227915704G>A	ENST00000396625.3	-	33	3346	c.3139C>T	c.(3139-3141)Cca>Tca	p.P1047S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1047S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1047	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCACCTGGAAGTCCTGGA	0.527000													26	51					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518394	84518394	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:84518394C>T	ENST00000331369.5	+	0	588																											GGCATGGCATCCTAAAGAAGA	0.473000													45	70					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81624882	81624882	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81624882G>A	ENST00000548058.1	+	12	2471	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	ACSS3_ENST00000548324.1_Missense_Mutation_p.E203K|ACSS3_ENST00000261206.3_Missense_Mutation_p.E520K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	521						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAAGAATCAGGAAGCATTCAA	0.303000													6	18					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230691	46230691	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:46230691C>T	ENST00000334344.6	+	8	1112	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R165C	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	314					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R314S(1)|p.R314C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACCTGTCTTCGTTTCCTATT	0.398000			"""N, S, F"""		hepatocellular carcinoma								24	53					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	106967810	106967810	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:106967810A>G	ENST00000273980.4	-	27	3046	c.2599T>C	c.(2599-2601)Tat>Cat	p.Y867H	TBCK_ENST00000394706.3_Missense_Mutation_p.Y828H|TBCK_ENST00000432496.2_Missense_Mutation_p.Y867H|TBCK_ENST00000361687.4_Missense_Mutation_p.Y804H|TBCK_ENST00000394708.2_Missense_Mutation_p.Y867H			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	867	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATTCTTGGATATTTCATCTTC	0.378000													11	18					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932823	148932823	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:148932823C>T	ENST00000539543.1	+	0	79					NR_027355.1																						CGCCAGGCCTCCATAGAGCTG	0.597000													13	163					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798304	38798304	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38798304C>T	ENST00000449082.2	-	9	1150	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	384					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTAGAAAGATCCCAGGAAGAT	0.453000													40	72					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74450947	74450947	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:74450947C>T	ENST00000307439.5	-	6	811	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	RASSF6_ENST00000395777.2_Missense_Mutation_p.E173K|RASSF6_ENST00000335049.5_Missense_Mutation_p.E161K|RASSF6_ENST00000342081.3_Missense_Mutation_p.E205K	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	205					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTCTGTCTTTCTTTTCTGTCC	0.383000													17	34					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978308	69978308	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:69978308G>A	ENST00000305231.7	+	6	1490	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	482					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCAGCCCACGACCTCACCTG	0.483000													66	119					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071048	240071048	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:240071048G>A	ENST00000255380.4	+	5	1076	c.297G>A	c.(295-297)ctG>ctA	p.L99L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	99					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACAAGCAGCTGAAGACGGTCA	0.468000													12	21					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625798	141625798	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141625798G>A	ENST00000389484.3	-	26	5175	c.4204C>T	c.(4204-4206)Cct>Tct	p.P1402S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1402					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAATGCGAGGAAAATTTGCA	0.348000										TSP Lung(27;0.18)			21	51					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220804394	220804394	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:220804394A>G	ENST00000402574.1	+	10	1524	c.522A>G	c.(520-522)cgA>cgG	p.R174R	MARK1_ENST00000366917.4_Silent_p.R309R|MARK1_ENST00000366918.4_Silent_p.R287R	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	309	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGAAAGATCGATGGATGAATG	0.333000													3	61					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196636426	196636426	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196636426C>T	ENST00000312428.6	-	61	11491	c.11391G>A	c.(11389-11391)aaG>aaA	p.K3797K	DNAH7_ENST00000409063.1_Silent_p.K280K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3797					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						CTCTTATGGTCTTCAGTAACT	0.378000													49	92					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466480	68466480	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:68466480C>T	ENST00000478136.1	+	3	659	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.R57C	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	57						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TAACAAGAATCGCATTGAGGA	0.473000													17	28					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290653	141290653	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:141290653C>T	ENST00000247452.3	-	3	1468	c.1121G>A	c.(1120-1122)tGa>tAa	p.*374*		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	0						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTAGACTTCACTCAGAAAA	0.507000										HNSCC(46;0.14)			22	9					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815598	158815598	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158815598G>A	ENST00000368141.4	+	5	1053	c.792G>A	c.(790-792)aaG>aaA	p.K264K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	264	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAAGGAAGAAGGTCATTACCA	0.358000													18	21					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10101555	10101555	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:10101555G>A	ENST00000324907.9	+	4	795	c.659G>A	c.(658-660)gGc>gAc	p.G220D	GRHL1_ENST00000405379.2_Missense_Mutation_p.G220D|GRHL1_ENST00000324883.5_Missense_Mutation_p.A57T	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	220					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTCAAGGAAGGCGTTCAGGAG	0.463000													32	46					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247152	10247152	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10247152G>A	ENST00000418404.3	-	15	2022	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	MYH13_ENST00000570743.1_Missense_Mutation_p.S620F|MYH13_ENST00000252172.4_Missense_Mutation_p.S620F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	620	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAAAAGGAAGGAGAGAAGCTT	0.498000													15	26					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112050169	112050169	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:112050169G>A	ENST00000357685.5	+	2	392	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	BCO2_ENST00000438022.1_Missense_Mutation_p.R52Q|BCO2_ENST00000361053.4_Missense_Mutation_p.R86Q|BCO2_ENST00000393032.2_Missense_Mutation_p.R52Q|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000531169.1_Missense_Mutation_p.R52Q|BCO2_ENST00000526088.1_Missense_Mutation_p.R52Q|BCO2_ENST00000532593.1_Intron			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	86					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCTCTACTTCGAATTGGACCT	0.498000													22	49					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034608	128034608	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:128034608G>A	ENST00000338791.6	-	15	1946	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	IMPDH1_ENST00000470772.1_Silent_p.I446I|IMPDH1_ENST00000378717.4_Silent_p.I463I|IMPDH1_ENST00000354269.5_Silent_p.I522I|IMPDH1_ENST00000496200.1_Silent_p.I422I|IMPDH1_ENST00000419067.2_Silent_p.I499I|IMPDH1_ENST00000348127.6_Silent_p.I496I|IMPDH1_ENST00000343214.4_Silent_p.I422I|IMPDH1_ENST00000480861.1_Silent_p.I442I	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	447					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTTTGTCCTGGATGGAGCCCG	0.602000													108	62					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39051792	39051792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:39051792C>T	ENST00000355481.4	+	89	12438	c.12307C>T	c.(12307-12309)Cag>Tag	p.Q4103*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.Q4103*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.Q4108*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4108					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAGAAATCCAGTTCCTGCT	0.567000													15	34					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38869168	38869168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:38869168C>T	ENST00000274276.3	+	2	424	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	OSMR_ENST00000502536.1_Nonsense_Mutation_p.Q8*	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	8					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGCAGTCTTTCAGACAACATT	0.343000													44	49					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151818999	151818999	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:151818999C>T	ENST00000370306.2	+	7	877	c.857C>T	c.(856-858)tCg>tTg	p.S286L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	286						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.S286L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGATATCGTTTTGGATG	0.453000													117	49					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160968945	160968945	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:160968945C>T	ENST00000447678.1	-	33	5300	c.5180G>A	c.(5179-5181)gGa>gAa	p.G1727E	LPA_ENST00000316300.5_Missense_Mutation_p.G1727E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4235	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCCCCGGTATCCTTTCCCATT	0.483000													29	23					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668094	94668094	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:94668094C>T	ENST00000370217.3	-	11	1399	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	ARHGAP29_ENST00000260526.6_Intron			Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	0					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGAAAAAGATCGTTACTTTTT	0.418000													22	44					0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40447666	40447666	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:40447666C>G	ENST00000345506.4	+	6	1047	c.405C>G	c.(403-405)gaC>gaG	p.D135E	STAT5A_ENST00000588868.1_Missense_Mutation_p.D135E|STAT5A_ENST00000590949.1_Missense_Mutation_p.D135E|STAT5A_ENST00000546010.2_Missense_Mutation_p.D105E|STAT5A_ENST00000452307.2_Missense_Mutation_p.D135E	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	135					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TCCTGGTTGACGCCATGTCCC	0.532000													12	12					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000170	73000170	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:73000170C>T	ENST00000322038.5	+	2	3257	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	TSHZ1_ENST00000580243.1_Silent_p.S936S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	936						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTGGGCTCTCCATGACCACCA	0.557000													12	40					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977713	56977713	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:56977713G>A	ENST00000371250.3	-	5	1296	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	249					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TGGTGCTTGTGGTCTGATACG	0.572000													37	52					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481558	159481558	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:159481558C>T	ENST00000389757.3	+	7	897	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	PKP4_ENST00000389759.3_Missense_Mutation_p.P258S	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	258					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						ACCTCTGAACCCCAGTGCATA	0.577000										HNSCC(62;0.18)			15	53					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968541	87968541	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:87968541C>T	ENST00000307808.6	+	3	1253	c.833C>T	c.(832-834)tCc>tTc	p.S278F	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.S285F	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	278						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCACCTCCCTCCCTCCCCTCA	0.547000													66	109					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67265175	67265175	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:67265175G>A	ENST00000258201.4	-	17	2830	c.2583C>T	c.(2581-2583)caC>caT	p.H861H	FHOD1_ENST00000567687.1_Silent_p.H440H	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	861	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGCAGAGATGGTGTAGCAGTG	0.577000													26	46					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730860	57730860	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:57730860C>T	ENST00000281282.5	+	2	741	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	221	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TATGCAGCTCCGTGGTCATAG	0.537000													41	81					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2595331	2595331	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:2595331G>A	ENST00000570628.1	-	23	3609	c.3504C>T	c.(3502-3504)caC>caT	p.H1168H	CLUH_ENST00000435359.1_Silent_p.H1168H|CLUH_ENST00000575014.1_Silent_p.H1101H|CLUH_ENST00000538975.1_Silent_p.H1168H					clustered mitochondria (cluA/CLU1) homolog																		CCTCCTTCTCGTGCTGCAGGG	0.751000													7	9					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156925515	156925515	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:156925515G>A	ENST00000368194.3	-	20	2787	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P543L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	543					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGAGCTTTTGGGCTTCCCAAT	0.498000													72	125					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49597902	49597902	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:49597902C>T	ENST00000527477.1	+	0	506																											TGGGTGACATCATTATTGGAG	0.498000													18	34					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038078	62038078	+	Missense_Mutation	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:62038078A>C	ENST00000354587.3	-	17	2738	c.2562T>G	c.(2560-2562)tgT>tgG	p.C854W	KCNQ2_ENST00000344462.3_Missense_Mutation_p.C842W|KCNQ2_ENST00000360480.3_Missense_Mutation_p.C818W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.C854W|KCNQ2_ENST00000430658.1_Missense_Mutation_p.C815W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.C846W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.C828W|KCNQ2_ENST00000370226.1_Missense_Mutation_p.C816W|KCNQ2_ENST00000359125.2_Missense_Mutation_p.C846W			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	846				R -> C (in Ref. 4; AAD16988).	axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CGCACGGGGTACAGAGGTCGG	0.697000													3	7					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579648	43579648	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:43579648C>T	ENST00000406487.1	-	3	665	c.567G>A	c.(565-567)atG>atA	p.M189I		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	189	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACCTATGAGTCATAGGGAGGC	0.483000													122	182					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957464	111957464	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:111957464C>T	ENST00000369732.3	-	11	1714	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	553					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGTCTCAGTCTGAAAATGGA	0.542000													38	76					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46066470	46066470	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:46066470C>T	ENST00000295452.4	-	5	780	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	205					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTGAAAATTCCAGTGGACAG	0.274000													37	68					0	0	1	0	0
ZNF414	84330	broad.mit.edu	37	19	8576415	8576415	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8576415C>T	ENST00000393927.4	-	6	993	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	ZNF414_ENST00000255616.8_Missense_Mutation_p.G294S	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						GGGCTGCTGCCAGCACCTGCG	0.687000													3	8					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587205	26587205	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:26587205G>A	ENST00000436318.2	-	2	415	c.282C>T	c.(280-282)ctC>ctT	p.L94L	MUC15_ENST00000281268.8_Silent_p.L94L|MUC15_ENST00000527569.1_Silent_p.L94L|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Silent_p.L67L|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Silent_p.L94L			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	67						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GACTCGCCTTGAGATTTGAGG	0.373000													27	34					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871893	23871893	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:23871893A>G	ENST00000354639.3	+	24	3363	c.2899A>G	c.(2899-2901)Acc>Gcc	p.T967A	STK31_ENST00000428484.1_Missense_Mutation_p.T967A|STK31_ENST00000433467.2_Missense_Mutation_p.T967A|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.T990A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	990	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TACTGAATACACCCTATATAA	0.328000													12	63					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414932	21414932	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:21414932G>A	ENST00000534331.1	-	2	338	c.288C>T	c.(286-288)ttC>ttT	p.F96F	C10orf113_ENST00000377118.4_Silent_p.F86F|C10orf113_ENST00000529198.1_3'UTR|NEBL_ENST00000417816.2_Intron	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	96										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TGTAGAGACTGAAGCTGACTC	0.607000													13	25					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997130	66997130	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:66997130G>A	ENST00000303334.4	+	2	202	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	CES3_ENST00000394037.1_Missense_Mutation_p.R44Q|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	44						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGTCGTGTGCGAGGCCGGCAG	0.637000													37	55					0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4821370	4821370	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:4821370C>T	ENST00000348624.4	+	3	445	c.351C>T	c.(349-351)tcC>tcT	p.S117S	AP5Z1_ENST00000401897.1_Silent_p.S117S	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	117					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										TGGTGGCCTCCGTTCTCTTGG	0.662000													7	24					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935724	151935724	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:151935724G>A	ENST00000393902.3	-	3	1010	c.443C>T	c.(442-444)cCt>cTt	p.P148L	MAGEA3_ENST00000370278.3_Missense_Mutation_p.P148L			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	148	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGATCACAGGAAAGAAATA	0.517000													43	18					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144549	12144549	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:12144549G>A	ENST00000263932.2	+	2	314	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	31					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGTCATGGAAACCCCAGC	0.592000													51	89					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50591503	50591503	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:50591503C>T	ENST00000262794.5	+	22	3005	c.2922C>T	c.(2920-2922)tcC>tcT	p.S974S	MOV10L1_ENST00000395843.1_Silent_p.S17S|MOV10L1_ENST00000395852.1_Silent_p.S101S|MOV10L1_ENST00000395858.3_Silent_p.S974S|MOV10L1_ENST00000540615.1_Silent_p.S954S|MOV10L1_ENST00000545383.1_Silent_p.S974S|MOV10L1_ENST00000354853.2_Silent_p.S17S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	974					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACTACCGGTCCCACGAGGCCC	0.602000													34	143					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945174	55945174	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55945174C>T	ENST00000394256.2	+	1	192	c.164C>T	c.(163-165)aCc>aTc	p.T55I	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CACCTCCAGACCCCCATGTAT	0.408000													95	188					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581755	7581755	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7581755G>A	ENST00000379802.3	+	23	5673	c.5332G>A	c.(5332-5334)Gaa>Aaa	p.E1778K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1778	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAGAGAGGGAAAATTTGAG	0.408000													34	136					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58749978	58749978	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:58749978G>A	ENST00000245206.5	-	8	1087	c.959C>T	c.(958-960)cCc>cTc	p.P320L	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.P277L	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	320					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCATTGAGGGGAGGGTTGGA	0.517000													28	30					0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172059	38172059	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:38172059G>A	ENST00000331769.2	+	1	360	c.144G>A	c.(142-144)agG>agA	p.R48R	CSF3_ENST00000577675.1_Silent_p.R48R|CSF3_ENST00000225474.2_Silent_p.R52R|CSF3_ENST00000394149.3_Silent_p.R52R|CSF3_ENST00000394148.3_Silent_p.R52R			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	52					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGCAAGTGAGGAAGATCCAGG	0.642000													7	13					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119028185	119028185	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:119028185G>A	ENST00000328252.3	+	8	3151	c.2782G>A	c.(2782-2784)Gga>Aga	p.G928R	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	928					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AACTATTTCAGGAACTGAAGA	0.388000													19	32					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149937753	149937753	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:149937753G>A	ENST00000369135.3	-	5	847	c.553C>T	c.(553-555)Cct>Tct	p.P185S	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	185	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTTGCCAAAGGAAGCAGCCTC	0.517000													13	24					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765428	18765428	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:18765428C>T	ENST00000304081.4	-	5	917	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	NT5C1B_ENST00000600945.1_Missense_Mutation_p.E333K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E333K|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E333K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATGTACTTTTCCAGACCCTCT	0.552000													56	115					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854670	18854670	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:18854670C>T	ENST00000447925.2	-	8	1168	c.899G>A	c.(898-900)gGa>gAa	p.G300E	PLCZ1_ENST00000539875.1_Missense_Mutation_p.G109E|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G43E|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.G302E|PLCZ1_ENST00000541695.1_Missense_Mutation_p.G165E|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G107E	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	302					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)					CTTTAAGGTTCCTATTTTCTT	0.363000													6	16					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54916148	54916148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54916148C>T	ENST00000545554.1	+	31	6355	c.6355C>T	c.(6355-6357)Cag>Tag	p.Q2119*	UNC13C_ENST00000539562.2_Nonsense_Mutation_p.Q40*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q2117*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q2119*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2119	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAAACATTTCAGTTGTAAGT	0.403000													42	73					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196794676	196794676	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:196794676C>T	ENST00000320493.5	+	2	216	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Missense_Mutation_p.S43F	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	43	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAGCCATTTTCCCAGGTTCCT	0.328000													15	5					0	0	1	0	0
FAIM	55179	broad.mit.edu	37	3	138340314	138340314	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:138340314G>A	ENST00000338446.4	+	3	829	c.146G>A	c.(145-147)gGa>gAa	p.G49E	FAIM_ENST00000360570.3_Missense_Mutation_p.G37E|FAIM_ENST00000393034.2_Missense_Mutation_p.G15E|FAIM_ENST00000464668.1_Missense_Mutation_p.G15E|FAIM_ENST00000393035.2_Missense_Mutation_p.G15E	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	15					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TTAAGTGACGGAGTCCACAAG	0.373000													36	40					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304184	115304184	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:115304184C>T	ENST00000371906.4	+	3	841	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	217					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGAAAAATATCCTTGGTTTTA	0.373000													23	9					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17799571	17799571	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:17799571G>A	ENST00000378814.5	-	22	2715	c.2716C>T	c.(2716-2718)Ccg>Tcg	p.P906S	KIF13A_ENST00000259711.6_Missense_Mutation_p.P906S|KIF13A_ENST00000378843.2_Missense_Mutation_p.P906S|KIF13A_ENST00000378826.2_Missense_Mutation_p.P906S|KIF13A_ENST00000378816.5_Missense_Mutation_p.P906S	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	906					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCCACCACCGGGGCAGCCACC	0.502000													12	29					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151451916	151451916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:151451916G>A	ENST00000356517.3	+	1	202	c.93G>A	c.(91-93)tgG>tgA	p.W31*		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	31						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAGAAAGCTGGAAAATAATGG	0.378000													16	27					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649475	102649475	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:102649475C>T	ENST00000279441.4	-	4	538	c.502G>A	c.(502-504)Gga>Aga	p.G168R		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	168					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TAAAAGTCTCCATGTTCTGAT	0.378000													25	28					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119445136	119445136	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:119445136G>A	ENST00000273390.5	+	7	878	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		AGAAGAGGAGGAAAATGATGA	0.517000													14	20					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249674	177249674	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:177249674C>T	ENST00000361539.4	+	8	1674	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		454						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCTGCCAGGGCCCCATCCCAT	0.622000													3	16					0	0	1	0	0
MAFK	7975	broad.mit.edu	37	7	1579986	1579986	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:1579986C>T	ENST00000343242.4	+	3	675	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	149					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		TCCTCCACCTCCGTGCCCTTC	0.736000													4	13					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567119	173567119	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:173567119G>A	ENST00000367714.3	-	4	703	c.281C>T	c.(280-282)tCt>tTt	p.S94F	SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	94					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGAAAAGTAAGAATAAAGTGA	0.308000													25	31					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115754817	115754817	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:115754817C>T	ENST00000264363.2	-	12	3019	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	781	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCTGGACTTCATCCATCACA	0.368000													20	34					0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9197091	9197091	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:9197091C>T	ENST00000327827.7	+	3	955	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	186										endometrium(4)|large_intestine(2)|lung(2)	8						ATTTGCAACCCTTCCGGGAAG	0.473000													13	25					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857474	140857474	+	Missense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140857474C>A	ENST00000308177.3	+	1	1895	c.1791C>A	c.(1789-1791)gaC>gaA	p.D597E	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCTGGGACGCGGATGCAG	0.602000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	24					1.5842e-08	1.59709e-08	1	1	0
MED12L	116931	broad.mit.edu	37	3	151085968	151085968	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:151085968C>T	ENST00000474524.1	+	23	3412	c.3374C>T	c.(3373-3375)gCg>gTg	p.A1125V	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A985V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1125					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGCCTGGGGCGAGAATGACA	0.512000													19	30					0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75065573	75065573	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:75065573C>T	ENST00000395759.2	+	4	541	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	MTHFD2L_ENST00000433372.1_Missense_Mutation_p.H37Y|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.H114Y|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.H114Y	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	114					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGATGGATTTCATATTATCAA	0.338000													31	64					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645358	167645358	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:167645358C>T	ENST00000519204.1	+	22	4217	c.4099C>T	c.(4099-4101)Ctc>Ttc	p.L1367F	TENM2_ENST00000518659.1_Missense_Mutation_p.L1488F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1312F|TENM2_ENST00000520394.1_Missense_Mutation_p.L1249F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1487F					teneurin transmembrane protein 2																		CACTGGGGTCCTCTACATCAC	0.532000													37	99					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179696318	179696318	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:179696318G>A	ENST00000452135.2	-	3	512	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C	MAPK9_ENST00000539014.1_Missense_Mutation_p.R72C|MAPK9_ENST00000393360.3_Missense_Mutation_p.R72C|MAPK9_ENST00000425491.2_Missense_Mutation_p.R72C|MAPK9_ENST00000347470.4_Missense_Mutation_p.R72C|MAPK9_ENST00000455781.1_Missense_Mutation_p.R72C|MAPK9_ENST00000343111.6_Missense_Mutation_p.R72C|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	72	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAGTTCACGATAAGCTCTC	0.348000													28	42					0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124929074	124929074	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:124929074C>T	ENST00000536616.1	+	2	113	c.75C>T	c.(73-75)ctC>ctT	p.L25L	MORN5_ENST00000373764.3_Silent_p.L25L|MORN5_ENST00000486801.1_3'UTR			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	25										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AGTACATCCTCCCTACCGAAA	0.527000													8	21					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8465562	8465562	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:8465562C>T	ENST00000381196.4	-	29	4161	c.3618G>A	c.(3616-3618)ggG>ggA	p.G1206G	PTPRD_ENST00000397606.3_Silent_p.G785G|PTPRD_ENST00000355233.5_Silent_p.G795G|PTPRD_ENST00000397611.3_Silent_p.G792G|PTPRD_ENST00000537002.1_Silent_p.G792G|PTPRD_ENST00000486161.1_Silent_p.G795G|PTPRD_ENST00000358503.5_Silent_p.G1184G|PTPRD_ENST00000356435.5_Silent_p.G1206G|PTPRD_ENST00000397617.3_Silent_p.G785G|PTPRD_ENST00000360074.4_Silent_p.G1193G|PTPRD_ENST00000540109.1_Silent_p.G1206G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1206					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTTGTCATCCCCCAGGGTGA	0.428000										TSP Lung(15;0.13)			45	77					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95813738	95813738	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:95813738G>A	ENST00000416240.2	-	11	1221	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	SLC25A13_ENST00000542654.1_Missense_Mutation_p.A235V|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A343V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	343					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CACAGCAGTGGCTCCAACAGC	0.373000													10	23					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051990	17051990	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:17051990T>C	ENST00000418129.2	+	2	1239	c.774T>C	c.(772-774)atT>atC	p.I258I	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Silent_p.I258I|PLCL2_ENST00000432376.1_Silent_p.I258I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	384					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCCTTGAAATTATTCACAAAT	0.393000													18	32					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77850847	77850847	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:77850847G>A	ENST00000302536.2	+	2	416	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	88							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTGATGGTGCGACAAGGGAAT	0.448000													22	35					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377497	151377497	+	Silent	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:151377497T>A	ENST00000271715.2	-	19	4328	c.4014A>T	c.(4012-4014)tcA>tcT	p.S1338S	POGZ_ENST00000409503.1_Silent_p.S1329S|POGZ_ENST00000491586.1_Silent_p.S1294S|POGZ_ENST00000392723.1_Silent_p.S1285S|POGZ_ENST00000368863.2_Silent_p.S1243S|POGZ_ENST00000540984.1_Silent_p.S700S|POGZ_ENST00000361398.3_Silent_p.S1285S|POGZ_ENST00000531094.1_Silent_p.S1276S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1338					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCTTGTAGGTGAGTTAATGT	0.537000											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	46					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413476	178413476	+	Silent	SNP	G	G	A	rs75667861	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:178413476G>A	ENST00000231188.5	-	8	1957	c.1779C>T	c.(1777-1779)gcC>gcT	p.A593A	GRM6_ENST00000517717.1_Silent_p.A593A|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	593					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCCCAGCACGGCCAGGAGGA	0.711000													5	15					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997990	45997990	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:45997990G>A	ENST00000245923.4	-	3	588	c.353C>T	c.(352-354)tCc>tTc	p.S118F	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.S118F|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	118						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		AGGCTCCGGGGATTGGCTCAG	0.697000													23	39					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123858837	123858837	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:123858837C>T	ENST00000373855.1	+	6	877	c.617C>T	c.(616-618)tCa>tTa	p.S206L	CNTRL_ENST00000373865.2_Missense_Mutation_p.S206L|CNTRL_ENST00000238341.5_Missense_Mutation_p.S206L			Q7Z7A1	CNTRL_HUMAN	centriolin	206					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.S206L(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AACAAGATATCATCGGTAAGT	0.284000													25	59					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195386	124195386	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:124195386C>T	ENST00000518448.1	+	2	2304	c.290C>T	c.(289-291)tCc>tTc	p.S97F	FAM83A_ENST00000536633.1_Missense_Mutation_p.S97F|FAM83A_ENST00000276699.6_Missense_Mutation_p.S97F|FAM83A_ENST00000522648.1_Missense_Mutation_p.S97F|FAM83A_ENST00000546351.1_Missense_Mutation_p.S97F|FAM83A_ENST00000318462.6_Missense_Mutation_p.S97F			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	97										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGACTGGACTCCAGCTCCCTA	0.677000													91	9					0	0	1	0	0
ADORA2B	136	broad.mit.edu	37	17	15878535	15878535	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:15878535G>A	ENST00000304222.2	+	2	1210	c.878G>A	c.(877-879)cGg>cAg	p.R293Q		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	293					activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TATGCTTACCGGAACCGAGAC	0.473000													56	85					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155163822	155163822	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:155163822G>A	ENST00000357232.3	-	22	5678	c.5679C>T	c.(5677-5679)ctC>ctT	p.L1893L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1893	Cadherin 17.				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)		CTTCAGAGGGGAGAAAAGCTG	0.393000													25	57					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772150	4772150	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:4772150G>A	ENST00000378191.4	+	2	601	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	AJAP1_ENST00000378190.3_Missense_Mutation_p.V74I|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	74					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.V74F(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCCAGCGCGGGTCCCGGCCCC	0.761000													6	9					0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722040	39722040	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:39722040G>A	ENST00000280082.3	+	5	1855	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	161						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGAAAATTCGAAACCATCAG	0.378000													28	51					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108135770	108135770	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:108135770G>A	ENST00000273353.3	-	30	3953	c.3897C>T	c.(3895-3897)ttC>ttT	p.F1299F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1299						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCTCCGTAGGAACTCGCCTA	0.443000													20	41					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76955544	76955544	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:76955544C>T	ENST00000257626.7	-	23	1890	c.1812G>A	c.(1810-1812)cgG>cgA	p.R604R	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_5'UTR	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		CCATGAGCAGCCGCTGGTGGC	0.517000													31	54					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412371	51412371	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:51412371C>T	ENST00000319760.6	-	1	77	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGACAAATTCTGTAATATTG	0.418000													7	13					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871324	51871324	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:51871324C>T	ENST00000371497.5	+	2	2214	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.P440S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P440S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	443					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTCTCTGGCTCCCAAGCCATC	0.478000													49	115					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44180676	44180676	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:44180676G>A	ENST00000357199.4	-	6	793	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	WFDC8_ENST00000289953.2_Missense_Mutation_p.P239S	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	239	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CAACGTCTGGGGTCCATACAT	0.398000													35	86					0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74439610	74439610	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:74439610C>T	ENST00000334696.6	-	13	1323	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	ENTPD5_ENST00000557325.1_Missense_Mutation_p.R335Q	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	335					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTCAACAGCTCGGTCATAATA	0.527000													59	105					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627452	187627452	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:187627452C>T	ENST00000304698.5	+	8	2586	c.2383C>T	c.(2383-2385)Ccc>Tcc	p.P795S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	795						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAATACATCCCCCACTAAAAG	0.478000													17	14					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124914223	124914223	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:124914223G>A	ENST00000356219.3	-	11	1240	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	NCOR2_ENST00000404621.1_Missense_Mutation_p.S361F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S361F|NCOR2_ENST00000405201.1_Missense_Mutation_p.S362F|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.S362F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	362					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)		GGCCGACATGGACAGCCCACT	0.662000													4	12					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752719	41752719	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:41752719C>T	ENST00000352645.4	+	22	2845	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S863F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	879					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CACATCCAGTCCGAGAAGCAC	0.622000													75	75					0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28326479	28326479	+	Missense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:28326479C>A	ENST00000373871.3	-	12	1315	c.1075G>T	c.(1075-1077)Gac>Tac	p.D359Y	EYA3_ENST00000373864.1_Missense_Mutation_p.D202Y|EYA3_ENST00000545175.1_Missense_Mutation_p.D306Y|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.D233Y|EYA3_ENST00000540618.1_Missense_Mutation_p.D313Y|EYA3_ENST00000373863.3_Missense_Mutation_p.D313Y			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	359					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ACCTCTAAGTCATTGAAAAAT	0.318000													28	55					1.36615e-20	1.38856e-20	1	1	0
VSIG10	54621	broad.mit.edu	37	12	118506341	118506341	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:118506341C>T	ENST00000359236.5	-	8	1684	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	470	Glu-rich.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						tcctcctcctcctcctcctcc	0.463000													3	2					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519426	52519426	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:52519426T>A	ENST00000270649.6	-	5	1969	c.1425A>T	c.(1423-1425)agA>agT	p.R475S	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGTATGACATCTCTCATGTT	0.403000													60	94					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040238	31040238	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:31040238C>T	ENST00000355537.3	+	4	3859	c.3712C>T	c.(3712-3714)Ctt>Ttt	p.L1238F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCCAGGGTCTTCTCCAAGC	0.667000													11	11					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224545	55224545	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:55224545G>A	ENST00000413439.1	+	0	1769																											CAGGGGTCCCGGGTGATGTTG	0.607000													12	18					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41153958	41153958	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:41153958C>T	ENST00000263413.3	-	15	2508	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G	C6_ENST00000337836.5_Silent_p.G748G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	748	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G748G(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCAGGAATTCCCCTGGCATG	0.473000													11	22					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339542	116339542	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:116339542G>A	ENST00000397752.3	+	2	604	c.404G>A	c.(403-405)aGc>aAc	p.S135N	MET_ENST00000436117.2_Missense_Mutation_p.S135N|MET_ENST00000318493.6_Missense_Mutation_p.S135N	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	135	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGCTGTGGCAGCGTCAACAGA	0.468000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				53	200					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21857904	21857904	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:21857904G>A	ENST00000328843.6	+	66	10690	c.10659G>A	c.(10657-10659)acG>acA	p.T3553T	DNAH11_ENST00000409508.3_Silent_p.T3546T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3553	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCGAGGAAACGATAGATCCAG	0.323000									Kartagener syndrome				20	22					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092688	151092688	+	Silent	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:151092688C>A	ENST00000370335.1	+	3	819	c.552C>A	c.(550-552)ggC>ggA	p.G184G	MAGEA4_ENST00000393920.1_Silent_p.G184G|MAGEA4_ENST00000276344.2_Silent_p.G184G|MAGEA4_ENST00000360243.2_Silent_p.G184G|MAGEA4_ENST00000393921.1_Silent_p.G184G|MAGEA4_ENST00000370340.3_Silent_p.G184G|MAGEA4_ENST00000370337.4_Silent_p.G184G			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	184	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCTGGGCCTTTCCTATG	0.542000													50	15					2.89935e-36	2.95406e-36	1	1	0
SLC9A7	84679	broad.mit.edu	37	X	46466476	46466476	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:46466476C>T	ENST00000328306.4	-	17	2114	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	697					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TCCAGCACTTCCTCCGAGCTG	0.602000													17	2					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997394	85997394	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:85997394G>A	ENST00000372105.3	-	2	192	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	57	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGTCCGGGGGGATGGACGCCG	0.667000													31	39					0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14141657	14141657	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:14141657G>A	ENST00000431365.2	+	2	383	c.326G>A	c.(325-327)gGa>gAa	p.G109E	RLN3_ENST00000585987.1_3'UTR	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	109						extracellular region	hormone activity			endometrium(1)|lung(4)	5						AGCTGGCAAGGAACCCCTGGG	0.622000													18	30					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57261476	57261476	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:57261476G>A	ENST00000278426.3	-	8	1216	c.861C>T	c.(859-861)aaC>aaT	p.N287N	SLC43A1_ENST00000528450.1_Silent_p.N287N|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	287					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCTCAGGAAGGTTTTCTGAGG	0.567000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	37					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7550881	7550881	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7550881C>T	ENST00000313599.3	-	7	1765	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D570N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D580N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	570	SRCR 5.					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						ACAATCACATCCTCTCTGTGT	0.398000													45	62					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370816	17370816	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:17370816C>T	ENST00000252597.3	-	5	831	c.658G>A	c.(658-660)Gat>Aat	p.D220N	USHBP1_ENST00000431146.2_Missense_Mutation_p.D156N	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	220							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AAGAGGGAATCCTGCAGCTCT	0.597000													4	22					0	0	1	0	0
SRGN	5552	broad.mit.edu	37	10	70863851	70863851	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:70863851G>A	ENST00000242465.3	+	3	492	c.452G>A	c.(451-453)gGa>gAa	p.G151E	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	151					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						GGTCAACATGGATTAGAAGAG	0.398000													38	62					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25910126	25910126	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:25910126G>A	ENST00000398988.3	+	5	1009	c.564G>A	c.(562-564)tcG>tcA	p.S188S	KSR1_ENST00000319524.6_Silent_p.S325S|KSR1_ENST00000509603.2_Silent_p.S325S|KSR1_ENST00000268763.6_Silent_p.S188S	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	323					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACGTCTCCTCGATGAGGTGAG	0.522000													3	4					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48744965	48744965	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:48744965C>T	ENST00000285238.8	+	12	1562	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	ABCC3_ENST00000427699.1_Silent_p.I494I	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	494	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGAGTGAGATCCTGAACGGCA	0.582000													18	36					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696397	150696397	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:150696397G>A	ENST00000335244.4	-	10	1562	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	SLC36A2_ENST00000450886.1_Missense_Mutation_p.S202F	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	478					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAGTGGTGGAGTTGGAAAA	0.493000													21	45					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545838	81545838	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81545838G>A	ENST00000548058.1	+	7	1971	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	ACSS3_ENST00000548324.1_Missense_Mutation_p.G36E|ACSS3_ENST00000261206.3_Missense_Mutation_p.G353E			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	354						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATCTGCTATGGACCTCTTCTT	0.303000													17	45					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47912453	47912453	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:47912453G>A	ENST00000426837.2	-	15	6231	c.6144C>T	c.(6142-6144)ttC>ttT	p.F2048F	MAP4_ENST00000360240.6_Silent_p.F903F|MAP4_ENST00000264724.11_Silent_p.F638F|MAP4_ENST00000441748.2_Silent_p.F55F|MAP4_ENST00000395734.3_Silent_p.F903F|MAP4_ENST00000383737.4_Silent_p.F631F|MAP4_ENST00000420772.2_Silent_p.F634F			P27816	MAP4_HUMAN	microtubule-associated protein 4	903					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCTTGTCTATGAAAGGAGTTG	0.622000													20	38					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245176	238245176	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:238245176C>T	ENST00000295550.4	-	40	9020		c.e40-1		COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGAACATTTCTGTTAAGACA	0.388000													22	37					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752148	21752148	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:21752148G>A	ENST00000382254.1	-	15	3169	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	CDH12_ENST00000522262.1_Missense_Mutation_p.P655S|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.P695S|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	695					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGAGAGTCTGGTTTTATATCC	0.458000										HNSCC(59;0.17)			21	33					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2349414	2349414	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:2349414G>A	ENST00000301732.5	-	14	2431	c.1731C>T	c.(1729-1731)tcC>tcT	p.S577S	ABCA3_ENST00000382381.3_Silent_p.S519S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	577	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTGTGAGCATGGAGAGGGTGG	0.662000													22	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582922	179582922	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179582922C>T	ENST00000589042.1	-	86	25035	c.24811G>A	c.(24811-24813)Gaa>Aaa	p.E8271K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7954K|TTN_ENST00000342992.6_Missense_Mutation_p.E7027K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7954	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)			TCCACATGTTCCAGAGGTTCA	0.398000													17	26					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33340583	33340583	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:33340583C>T	ENST00000270112.2	+	6	1256	c.896C>T	c.(895-897)tCt>tTt	p.S299F		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	299	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTCCTGCGCTCTCTCCTGGAA	0.527000													22	75					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172241143	172241143	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:172241143C>T	ENST00000241261.2	-	1	154	c.32G>A	c.(31-33)aGc>aAc	p.S11N	TNFSF10_ENST00000420541.2_Missense_Mutation_p.S11N	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	11					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGTCCCAGGCTGGGTCCCCC	0.547000													30	66					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146991928	146991928	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:146991928G>A	ENST00000265272.5	-	20	2820	c.2353C>T	c.(2353-2355)Cgt>Tgt	p.R785C	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R764C|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R743C	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	785						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAAGTCACGAATTCTCTGA	0.299000													9	8					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149520459	149520459	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:149520459C>T	ENST00000378016.2	+	0	13277							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCACGCCTCCCTTTGAGTTC	0.662000													33	179					0	0	1	0	0
STUB1	10273	broad.mit.edu	37	16	731277	731277	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:731277G>A	ENST00000565677.1	+	2	676	c.69G>A	c.(67-69)aaG>aaA	p.K23K	STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000564370.1_Silent_p.K23K|STUB1_ENST00000219548.4_Silent_p.K95K			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	95					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				AGTCTGTGAAGGCGCACTTCT	0.632000													7	21					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12876772	12876772	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:12876772G>A	ENST00000264827.5	-	16	1738	c.1568C>T	c.(1567-1569)gCc>gTc	p.A523V	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.A523V	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	523	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CTCCTGCAGGGCTTTCTGCAG	0.652000											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	41					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682004	100682004	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100682004C>T	ENST00000306151.4	+	3	7371	c.7307C>T	c.(7306-7308)tCa>tTa	p.S2436L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2436	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTACA	0.547000													201	415					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541105	55541105	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55541105C>T	ENST00000361760.1	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64_L65>LI(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGTGCTTTTTCCTTAGTCACT	0.398000													35	47					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282006	140282006	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:140282006C>T	ENST00000458420.3	+	15	2633	c.2443C>T	c.(2443-2445)Cat>Tat	p.H815Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	815					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCAGTCTGTCCATCATCCTGA	0.527000										HNSCC(16;0.037)			44	77					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6588622	6588622	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:6588622G>A	ENST00000321612.6	-	13	1811	c.1661C>T	c.(1660-1662)cCa>cTa	p.P554L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	554					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AACTACCAGTGGAATCATGCT	0.433000													14	28					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194839	18194839	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:18194839G>A	ENST00000314254.3	+	1	456	c.36G>A	c.(34-36)ctG>ctA	p.L12L	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	12						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTACAAAACTGACACCAATCA	0.522000													46	96					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048130	180048130	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:180048130C>T	ENST00000261937.6	-	14	2221	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	FLT4_ENST00000502649.1_Missense_Mutation_p.E715K|FLT4_ENST00000393347.3_Missense_Mutation_p.E715K|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	715	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCAGCCTCTCGTCTTTGTAC	0.657000													17	31					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28225719	28225719	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:28225719C>T	ENST00000305242.5	-	15	2280	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	ARMC4_ENST00000545014.1_Missense_Mutation_p.E255K|ARMC4_ENST00000537576.1_Missense_Mutation_p.E422K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	730							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTAACCGCTCTTTATTGTCA	0.453000													44	88					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101365135	101365135	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:101365135G>A	ENST00000392979.3	+	5	764	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	ANO4_ENST00000538618.1_Missense_Mutation_p.E336K|ANO4_ENST00000392977.3_Missense_Mutation_p.E170K|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	170						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						TGCCCCATGGGAAGTCCTTGG	0.368000										HNSCC(74;0.22)			35	58					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555383	155555383	+	Missense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:155555383C>A	ENST00000295101.2	+	1	573	c.96C>A	c.(94-96)gaC>gaA	p.D32E	KCNJ3_ENST00000544049.1_Missense_Mutation_p.D32E	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	32					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAGGCCAGGACCCTCAGCAGC	0.602000													7	35					8.12818e-05	8.15529e-05	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38691134	38691134	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:38691134G>A	ENST00000449981.2	+	3	521	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	DNAH8_ENST00000359357.3_5'UTR					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						AGAGGCAAGGGAAAGCCGAAG	0.308000													98	18					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039066	29039066	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:29039066T>C	ENST00000257189.4	+	5	526	c.443T>C	c.(442-444)tTg>tCg	p.L148S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	148	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAAAATTTTGGATATTAAT	0.353000													38	26					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719109	48719109	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:48719109G>A	ENST00000294129.2	-	5	822	c.703C>T	c.(703-705)Cca>Tca	p.P235S	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.P228S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.P235S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	235	Pro-rich.|Ser/Thr-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGAGCCTGGTTCAGATGGG	0.657000													8	5					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155237102	155237102	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:155237102C>T	ENST00000357232.3	-	15	3692	c.3693G>A	c.(3691-3693)atG>atA	p.M1231I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1231	Cadherin 10.				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)		GCTGAGTTTTCATTTCATAAT	0.378000													11	34					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68906550	68906550	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:68906550G>A	ENST00000262340.5	-	6	682	c.629C>T	c.(628-630)cCa>cTa	p.P210L		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	210					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TTGCAGTGGTGGGATCTTTAC	0.373000													25	36					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99315192	99315192	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:99315192C>T	ENST00000336374.2	-	5	391	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	130					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAGCAATGATCGTATTCTCTT	0.398000													17	31					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230271	21230271	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:21230271C>T	ENST00000233242.1	-	26	9596	c.9469G>A	c.(9469-9471)Ggc>Agc	p.G3157S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3157					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCTTCAAGCCTGTTTTTTCC	0.343000													25	59					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40102429	40102429	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:40102429C>T	ENST00000181839.4	+	8	3210	c.2605C>T	c.(2605-2607)Ccg>Tcg	p.P869S	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P869S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	869	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTTTAGTCGGCCGTATACTAA	0.383000													104	247					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739228	55739228	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:55739228G>A	ENST00000370830.3	-	1	1134	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	BMP5_ENST00000446683.2_Missense_Mutation_p.H146Y	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	146					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGGTATCATGGAGGCTGGCT	0.448000													82	56					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088221	92088221	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:92088221G>A	ENST00000298047.6	+	1	2960	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G	FAT3_ENST00000525166.1_Silent_p.G831G|FAT3_ENST00000409404.2_Silent_p.G981G|FAT3_ENST00000541502.1_Silent_p.G981G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	981	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTATAATGGGAGATTTGAAA	0.458000										TCGA Ovarian(4;0.039)			3	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436191	179436191	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179436191C>T	ENST00000589042.1	-	326	74892	c.74668G>A	c.(74668-74670)Ggg>Agg	p.G24890R	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G15825R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23249R|TTN_ENST00000342992.6_Missense_Mutation_p.G22322R|TTN_ENST00000342175.6_Missense_Mutation_p.G16017R|TTN_ENST00000359218.5_Missense_Mutation_p.G15950R|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23249	Fibronectin type-III 81.						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)			GTACTCTTCCCATATCTGTTT	0.448000													11	33					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53293738	53293738	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53293738C>T	ENST00000552551.1	-	6	1234	c.802G>A	c.(802-804)Gag>Aag	p.E268K	KRT8_ENST00000546897.1_Missense_Mutation_p.E268K|KRT8_ENST00000293308.6_Missense_Mutation_p.E268K|KRT8_ENST00000552150.1_Missense_Mutation_p.E296K			P05787	K2C8_HUMAN	keratin 8	268	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAATATCCTCGTACTGTGCC	0.587000													18	51					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558339	106558339	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:106558339G>A	ENST00000526355.1	-	8	2603	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S743L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S733L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	712					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S712L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TATTCTCGACGAAGAAAGAGA	0.478000													30	54					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795603	17795603	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:17795603G>A	ENST00000380607.4	+	9	1041	c.921G>A	c.(919-921)ggG>ggA	p.G307G	SH3GL2_ENST00000537391.1_Silent_p.G260G	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	307	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AAAATGAAGGGGAGTTGGGAT	0.483000													11	27					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729643	196729643	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196729643G>A	ENST00000312428.6	-	41	6836	c.6736C>T	c.(6736-6738)Cat>Tat	p.H2246Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2246					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						AAAAGCTCATGAAAATCTTCA	0.398000													23	34					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821662	5821662	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:5821662G>A	ENST00000381095.3	-	5	1684	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	NLGN4X_ENST00000381092.1_Missense_Mutation_p.P353S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P373S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P353S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P353S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	353					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGGATCTGGGGGTCGTCTGGG	0.582000													19	9					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769975	31769975	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:31769975C>T	ENST00000240587.4	-	2	1051	c.724G>A	c.(724-726)Gac>Aac	p.D242N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	242					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCATGGTTGTCGTCGCGGTAA	0.592000													67	135					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493245	33493245	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:33493245G>A	ENST00000254260.3	-	9	1048	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	RHPN2_ENST00000400226.4_Missense_Mutation_p.P187L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	338	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CCAGGAGTAGGGGATGTTCTC	0.622000													23	59					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276718	75276718	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:75276718G>A	ENST00000546196.1	-	2	1848	c.196C>T	c.(196-198)Ccg>Tcg	p.P66S	BCAR1_ENST00000420641.3_Missense_Mutation_p.P113S|BCAR1_ENST00000418647.3_Missense_Mutation_p.P141S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000542031.2_Missense_Mutation_p.P93S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P95S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P113S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P95S|BCAR1_ENST00000162330.5_Missense_Mutation_p.P95S			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	95					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGGAGGCCGGAGGCGCTGGG	0.677000													21	18					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1036119	1036119	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:1036119C>T	ENST00000562958.2	+	5	477	c.444C>T	c.(442-444)tcC>tcT	p.S148S	CNN2_ENST00000565096.2_Intron|CNN2_ENST00000348419.3_Intron|CNN2_ENST00000263097.4_Intron|CNN2_ENST00000606983.1_Intron			Q99439	CNN2_HUMAN	calponin 2	130					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	p.?(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCCTTTCCCTCACCCAGG	0.647000													7	19					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803387	27803387	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:27803387G>A	ENST00000408964.2	+	1	3999	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1316										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCTTCTAGGGAATTAGCAG	0.403000													15	21					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53639397	53639397	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:53639397G>A	ENST00000262135.4	-	24	3684	c.3591C>T	c.(3589-3591)atC>atT	p.I1197I	RPGRIP1L_ENST00000564374.1_Silent_p.I1231I|RPGRIP1L_ENST00000563746.1_Silent_p.I1243I|RPGRIP1L_ENST00000379925.3_Silent_p.I1277I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1277					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CCATACCATCGATATTTTGCT	0.493000													44	71					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123758578	123758578	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:123758578G>A	ENST00000223642.1	-	22	2820	c.2790_splice	c.e22-1	p.P931_splice		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	931					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACACCTTCTGGCTAAAATAAA	0.313000													52	93					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958359	121958359	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:121958359C>T	ENST00000379692.4	-	4	1293	c.767G>A	c.(766-768)gGa>gAa	p.G256E	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	256										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGAAGGAAATCCAAAGTGGGC	0.478000													13	27					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16377026	16377026	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:16377026C>T	ENST00000375679.4	+	11	1095	c.984C>T	c.(982-984)tcC>tcT	p.S328S	CLCNKB_ENST00000375667.3_Silent_p.S159S	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGTACTCCGCTCTGGCCA	0.647000													42	91					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299357	58299357	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:58299357G>A	ENST00000377918.3	+	4	3435	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1137					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGATGCAGAGGAAGTTGTGAG	0.493000													76	156					0	0	1	0	0
RPP21	79897	broad.mit.edu	37	6	30314530	30314530	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:30314530C>T	ENST00000436442.2	+	5	418	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	RPP21_ENST00000428040.2_Silent_p.S159S|RPP21_ENST00000433076.2_Silent_p.S144S|RPP21_ENST00000442966.2_Silent_p.S136S|TRIM39-RPP21_ENST00000513556.1_Silent_p.S397S					ribonuclease P/MRP 21kDa subunit											endometrium(2)|ovary(1)|prostate(1)	4						CAGCCCACTCCATTTCAGACC	0.433000													164	140					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396257	101396257	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:101396257C>T	ENST00000372774.3	-	3	296	c.47G>A	c.(46-48)gGa>gAa	p.G16E	TCEAL6_ENST00000372773.1_Missense_Mutation_p.G16E	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	16	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ttctggctttccctcGTTTTC	0.478000													9	2					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34042401	34042401	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:34042401C>T	ENST00000389232.4	+	57	8383	c.8313C>T	c.(8311-8313)acC>acT	p.T2771T	RYR3_ENST00000415757.3_Silent_p.T2771T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2771	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATATGACACCTTGACTGCCA	0.507000													6	5					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52721287	52721287	+	Missense_Mutation	SNP	G	G	T	rs147047392		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:52721287G>T	ENST00000394799.2	+	3	272	c.62G>T	c.(61-63)aGa>aTa	p.R21I	GNL3_ENST00000460073.1_3'UTR|GNL3_ENST00000418458.1_Missense_Mutation_p.R33I	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	33	Basic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CGAAAATTAAGAAAGGAGGCT	0.388000													11	13					4.68919e-08	4.72283e-08	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21462756	21462756	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:21462756G>A	ENST00000281523.2	-	8	1656	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	380						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATGGGTCCAGGAGCTGGCCGC	0.502000													7	23					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14174406	14174406	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:14174406C>T	ENST00000306077.4	+	6	737	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	161						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GCAAAAACTTCGACCGAGAGA	0.547000													28	49					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7681727	7681727	+	Silent	SNP	C	C	T	rs138204204		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7681727C>T	ENST00000572933.1	+	35	6941	c.5481C>T	c.(5479-5481)gtC>gtT	p.V1827V	DNAH2_ENST00000389173.2_Silent_p.V1827V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1827	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCATTGTGGTCAACTGCTCTG	0.597000													10	23					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877615	130877615	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:130877615G>A	ENST00000357462.5	-	1	567	c.474C>T	c.(472-474)atC>atT	p.I158I	POTEF_ENST00000360967.5_Silent_p.I158I|POTEF_ENST00000409914.2_Silent_p.I158I|POTEF_ENST00000361163.4_Silent_p.I158I			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	158						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGAGCATGACGATGAGATCCT	0.577000													48	22					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217285	150217285	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150217285G>A	ENST00000313543.4	+	2	380	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	75							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGAGCCTGGACACCACCTG	0.557000													20	18					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348136	180348136	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:180348136C>T	ENST00000410066.1	-	6	1136	c.533G>A	c.(532-534)gGa>gAa	p.G178E	ZNF385B_ENST00000336917.5_Missense_Mutation_p.G76E|ZNF385B_ENST00000409692.1_Missense_Mutation_p.G76E|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.G102E	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	178						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			ATGTTTACTTCCTTTGTAGTG	0.453000													24	50					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14602402	14602402	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:14602402C>T	ENST00000274217.3	+	5	579	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	153										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GCCAGGGCATCTCTTTTCCAT	0.403000													17	40					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115535566	115535566	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:115535566C>T	ENST00000354462.3	+	4	380	c.222C>T	c.(220-222)ttC>ttT	p.F74F	PLEKHS1_ENST00000369309.1_Silent_p.F158F|PLEKHS1_ENST00000361048.1_Silent_p.F344F|PLEKHS1_ENST00000369310.3_Silent_p.F324F|PLEKHS1_ENST00000369312.4_Silent_p.F242F					pleckstrin homology domain containing, family S member 1																		TGAACGTTTTCCTTTCTCCTC	0.433000													47	54					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412741	124412741	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124412741C>T	ENST00000306842.2	-	1	834	c.810G>A	c.(808-810)ggG>ggA	p.G270G		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		AGGACACTTTCCCTTGCTCGA	0.433000													23	24					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82875940	82875940	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:82875940G>A	ENST00000265077.3	+	14	10587	c.10022G>A	c.(10021-10023)gGa>gAa	p.G3341E	VCAN_ENST00000342785.4_Missense_Mutation_p.G1587E|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.G2354E|VCAN_ENST00000502527.2_Missense_Mutation_p.G600E|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.G1539E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3341	Sushi.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGGTGCTTAGGAAATGGAAGA	0.408000													35	55					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413594	48413594	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:48413594T>A	ENST00000249598.1	-	2	1433	c.1274A>T	c.(1273-1275)gAg>gTg	p.E425V		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	425					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GCACCCACACTCTGCCACGCT	0.607000													6	13					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190738236	190738236	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:190738236G>A	ENST00000441310.2	+	12	2721	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	PMS1_ENST00000409823.3_Missense_Mutation_p.E791K|PMS1_ENST00000418224.3_Missense_Mutation_p.E654K|PMS1_ENST00000447232.2_Missense_Mutation_p.E668K|PMS1_ENST00000432292.3_Missense_Mutation_p.E654K	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	830					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTCAATTACTGAAAATTACTT	0.269000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					17	22					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73045961	73045961	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73045961G>A	ENST00000604411.1	+	0	33922				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TAAGCTCAAAGAAGGAAGCTG	0.483000													23	15					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866294	139866294	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:139866294C>T	ENST00000370532.2	-	1	429	c.238G>A	c.(238-240)Gat>Aat	p.D80N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	80	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGAAAATCCTTGTCTTCC	0.468000													22	16					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747031	14747031	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:14747031G>A	ENST00000380881.4	-	35	6846	c.6031C>T	c.(6031-6033)Cca>Tca	p.P2011S	FREM1_ENST00000380894.1_Missense_Mutation_p.P546S|FREM1_ENST00000422223.2_Missense_Mutation_p.P2010S|FREM1_ENST00000380880.3_Missense_Mutation_p.P2010S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2010					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGTTCTTTGGAAATGAGGGC	0.448000													3	11					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27840387	27840387	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:27840387C>T	ENST00000318304.8	+	24	2618	c.2335C>T	c.(2335-2337)Ctg>Ttg	p.L779L	PPFIBP1_ENST00000228425.6_Silent_p.L773L|PPFIBP1_ENST00000537927.1_Silent_p.L626L|PPFIBP1_ENST00000542629.1_Silent_p.L748L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	779	SAM 2.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CATCCAGGTCCTGAGGATCAA	0.448000													46	56					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55933851	55933851	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:55933851C>T	ENST00000244728.5	-	22	2481	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G692E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G95E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G695E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	695	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTTTTTTCCTTGAATCCC	0.403000													5	21					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97251387	97251387	+	Splice_Site	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:97251387A>T	ENST00000389672.5	+	11	2424	c.2386_splice	c.e11+1	p.R796_splice	EPHA6_ENST00000502694.1_Splice_Site_p.R188_splice|EPHA6_ENST00000514100.1_Splice_Site_p.R188_splice|EPHA6_ENST00000442602.2_Splice_Site_p.R162_splice	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	701	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTCACCAAAAGTAAGTTACT	0.368000													11	21					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:168100393G>A	ENST00000409195.1	+	9	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000													30	44					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50605624	50605624	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:50605624C>T	ENST00000444124.2	-	4	569	c.369G>A	c.(367-369)ggG>ggA	p.G123G	DDC_ENST00000357936.5_Silent_p.G123G|DDC_ENST00000431062.1_Silent_p.G123G|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.G123G|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	123	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCAGCATCTTCCCGAGCCAGT	0.562000													14	36					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068609	5068609	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5068609C>T	ENST00000380370.1	+	1	854	c.854C>T	c.(853-855)cCa>cTa	p.P285L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGATTATCCCACCCTCTCTC	0.383000													22	40					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481559	159481559	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:159481559C>T	ENST00000389757.3	+	7	898	c.773C>T	c.(772-774)cCc>cTc	p.P258L	PKP4_ENST00000389759.3_Missense_Mutation_p.P258L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	258					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						CCTCTGAACCCCAGTGCATAT	0.582000										HNSCC(62;0.18)			15	52					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262348	61262348	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:61262348G>A	ENST00000344731.5	+	7	803	c.701G>A	c.(700-702)gGg>gAg	p.G234E	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	234					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAAATTCTAGGGATTCCATAT	0.428000													59	46					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75606725	75606725	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75606725C>T	ENST00000294638.5	+	5	987	c.323C>T	c.(322-324)tCc>tTc	p.S108F	LHX8_ENST00000356261.3_Missense_Mutation_p.S98F|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	108	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TGCAGAACCTCCCTAGGAAGG	0.403000													34	65					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30131690	30131690	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:30131690C>T	ENST00000376694.4	+	1	698	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	TRIM15_ENST00000376688.1_Missense_Mutation_p.P77S	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	77					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCCCCTGGGCCCGCTGGGAGA	0.627000													53	11					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236918340	236918340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:236918340C>T	ENST00000366578.4	+	17	2162	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	ACTN2_ENST00000546208.1_Nonsense_Mutation_p.Q160*|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q666*	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	666					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCTCCATCCAGATCACAGG	0.557000													33	73					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63476962	63476962	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:63476962G>A	ENST00000536984.2	+	3	927	c.233G>A	c.(232-234)gGa>gAa	p.G78E	CDH7_ENST00000397968.2_Missense_Mutation_p.G78E|CDH7_ENST00000323011.3_Missense_Mutation_p.G78E			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	78	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTTGATAAAGGAGATGGTTCC	0.373000													27	79					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25383959	25383959	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:25383959C>T	ENST00000405623.1	-	3	1250	c.795G>A	c.(793-795)aaG>aaA	p.K265K	POMC_ENST00000380794.1_Silent_p.K265K|POMC_ENST00000395826.2_Silent_p.K265K|POMC_ENST00000264708.3_Silent_p.K265K			P01189	COLI_HUMAN	proopiomelanocortin	265					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CTCACTCGCCCTTCTTGTAGG	0.647000													8	19					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44073845	44073845	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:44073845C>T	ENST00000344290.5	+	11	1964	c.1642C>T	c.(1642-1644)Ccg>Tcg	p.P548S	MAPT_ENST00000576518.1_Missense_Mutation_p.P144S|MAPT_ENST00000574436.1_Missense_Mutation_p.P213S|MAPT_ENST00000571987.1_Missense_Mutation_p.P530S|MAPT_ENST00000340799.5_Missense_Mutation_p.P184S|MAPT_ENST00000334239.8_Missense_Mutation_p.P155S|MAPT_ENST00000262410.5_Missense_Mutation_p.P530S|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.P213S|MAPT_ENST00000446361.3_Missense_Mutation_p.P155S|MAPT_ENST00000431008.3_Missense_Mutation_p.P213S|MAPT_ENST00000351559.5_Missense_Mutation_p.P213S|MAPT_ENST00000420682.2_Missense_Mutation_p.P184S|MAPT_ENST00000415613.2_Missense_Mutation_p.P548S|MAPT_ENST00000347967.5_Missense_Mutation_p.P119S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	530					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCCGCACCCCGTCCCTTCC	0.677000													11	12					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67039647	67039647	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:67039647G>A	ENST00000315962.4	+	1	517	c.144G>A	c.(142-144)agG>agA	p.R48R	TRIM55_ENST00000350034.4_Silent_p.R48R|TRIM55_ENST00000276573.7_Silent_p.R48R|TRIM55_ENST00000353317.5_Silent_p.R48R	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	48						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACCTGTGTAGGAAATGTGCCA	0.448000													220	55					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860187	16860187	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16860187C>T	ENST00000524140.2	+	6	1152	c.734C>T	c.(733-735)cCg>cTg	p.P245L	NWD1_ENST00000339803.6_Missense_Mutation_p.P110L|NWD1_ENST00000379808.3_Missense_Mutation_p.P245L|NWD1_ENST00000549814.1_Missense_Mutation_p.P245L|NWD1_ENST00000523826.1_Missense_Mutation_p.P39L|NWD1_ENST00000552788.1_Missense_Mutation_p.P245L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	245							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCGCCTGCCGTGGAGCCGC	0.602000													21	31					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247184	142247184	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142247184C>T	ENST00000390361.3	-	0	321																											AGAGACGGATCCCTCAGGCCT	0.572000													33	53					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140165878	140165878	+	Translation_Start_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140165878G>A	ENST00000504120.2	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I	PCDHA1_ENST00000378133.3_Start_Codon_SNP_p.M1I|PCDHA1_ENST00000394633.3_Start_Codon_SNP_p.M1I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTTGCAATGGTGTTTTCTA	0.488000													37	91					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327032	52327032	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:52327032G>A	ENST00000339223.4	+	2	210	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	FPR3_ENST00000595991.1_Missense_Mutation_p.E11K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	11					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCCTCTGAATGAAACTGAGGA	0.493000													16	15					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716716	39716716	+	Missense_Mutation	SNP	G	G	A	rs140694928	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:39716716G>A	ENST00000553728.1	+	4	1151	c.938G>A	c.(937-939)gGa>gAa	p.G313E	MIA2_ENST00000280082.3_Missense_Mutation_p.G313E|MIA2_ENST00000556784.1_Missense_Mutation_p.G312E																							TTTGGTGGAGGATTTACAAGT	0.403000													37	60					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49896855	49896855	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:49896855C>T	ENST00000477224.1	-	11	1880	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	CAMKV_ENST00000463537.1_Silent_p.R399R|CAMKV_ENST00000296471.7_Missense_Mutation_p.D440N|CAMKV_ENST00000466940.1_Missense_Mutation_p.D394N|CAMKV_ENST00000488336.1_Missense_Mutation_p.D437N|CAMKV_ENST00000467248.1_Missense_Mutation_p.D393N			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	468	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTGTGCTGTCCGGCTGGGCC	0.647000													25	37					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394773	233394773	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:233394773C>T	ENST00000258229.8	-	5	1069	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	279						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTGAATTCTCACTCCCCCAC	0.522000													9	22					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539841	55539841	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:55539841C>T	ENST00000220676.1	+	4	3547	c.3399C>T	c.(3397-3399)ctC>ctT	p.L1133L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1133					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGCTTGGCTCTTGGTGCTAA	0.413000													56	19					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160813066	160813066	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:160813066C>T	ENST00000283243.7	-	21	3183	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E993K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	993	C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCCCCTTCTTCAGCACAGAAA	0.433000													32	52					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284481	43284481	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:43284481C>T	ENST00000511537.1	-	0	454					NR_033868.1																						AAGAACAACTCCGTCAGTGGA	0.398000													6	14					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557276	157557276	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:157557276C>T	ENST00000271532.1	-	5	772	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	213	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.E213K(1)|p.E213Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTGTGTTTCACAGCTCAGG	0.498000													58	85					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263174	248263174	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248263174C>T	ENST00000366478.2	+	3	834	c.497C>T	c.(496-498)cCc>cTc	p.P166L	OR2L13_ENST00000358120.2_Missense_Mutation_p.P166L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	166					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)			CTTCATATTCCCTACTGCAGG	0.458000													54	121					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965039	88965039	+	Missense_Mutation	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:88965039A>C	ENST00000333190.4	+	4	3352	c.2743A>C	c.(2743-2745)Act>Cct	p.T915P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	915			T -> I (in dbSNP:rs56948780).			intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAATCAAACACTGCAGAAGG	0.433000										HNSCC(36;0.09)			39	51					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53202469	53202469	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53202469C>T	ENST00000551956.1	-	5	1492		c.e5+1		KRT4_ENST00000293774.4_Splice_Site|KRT4_ENST00000458244.2_Splice_Site			B4DRS2	B4DRS2_HUMAN	keratin 4							keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ATACCACCCACCTTGGTCTGG	0.552000													17	41					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177809	7177809	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7177809C>T	ENST00000406697.1	+	15	2549	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	C1S_ENST00000328916.3_Missense_Mutation_p.P641S|C1S_ENST00000360817.5_Missense_Mutation_p.P641S|C1S_ENST00000402681.3_Missense_Mutation_p.P474S			P09871	C1S_HUMAN	complement component 1, s subcomponent	641	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGTACAGGATCCCAATGACAA	0.532000													56	90					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321518	56321518	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56321518C>T	ENST00000443188.1	-	5	1168	c.458G>A	c.(457-459)gGa>gAa	p.G153E	NLRP11_ENST00000592953.1_Missense_Mutation_p.G54E|NLRP11_ENST00000589824.2_Missense_Mutation_p.G153E|NLRP11_ENST00000589093.1_Missense_Mutation_p.G153E|NLRP11_ENST00000360133.3_Missense_Mutation_p.G153E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	153	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCTCTCTCTCCCATCAGGAA	0.413000													17	24					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3766858	3766858	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:3766858G>A	ENST00000379751.4	-	1	479	c.273C>T	c.(271-273)gcC>gcT	p.A91A		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	91	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCGGCAGGCCGGCGGCGCGGA	0.652000													20	50					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160039797	160039797	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:160039797C>T	ENST00000327245.5	-	18	3635	c.2789G>A	c.(2788-2790)aGa>aAa	p.R930K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	930					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTTAACAGTCTGCAGGAATG	0.483000													28	56					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458470	142458470	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142458470C>T	ENST00000486171.1	+	2	122	c.105C>T	c.(103-105)gtC>gtT	p.V35V	PRSS1_ENST00000311737.7_Silent_p.V35V			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	35	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGAATTCTGTCCCCTACCAGG	0.527000													101	103					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738691	102738691	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:102738691G>A	ENST00000210633.3	+	7	807	c.729G>A	c.(727-729)acG>acA	p.T243T	SEMA4G_ENST00000517724.1_Silent_p.T243T|SEMA4G_ENST00000370250.4_Silent_p.T243T|MRPL43_ENST00000370241.3_3'UTR|SEMA4G_ENST00000519756.1_Intron|MRPL43_ENST00000318325.2_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	243	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ACTTCTTCACGGAGCGTGCCA	0.607000													14	26					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028471	102028471	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:102028471C>T	ENST00000510508.4	+	1	784	c.638C>T	c.(637-639)cCc>cTc	p.P213L	DIO3_ENST00000359323.3_Missense_Mutation_p.P187L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	187					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACGGACTCTCCCTACATCATC	0.637000													40	63					0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455746	62455746	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:62455746G>A	ENST00000317449.4	-	2	712	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	79						integral to membrane				cervix(1)|kidney(1)	2						GGCTGGGCGGGGCTGGAGAGT	0.716000													5	7					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220379	55220379	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:55220379C>T	ENST00000413439.1	+	0	523																											CCTGTGGTTTCTTCCAGGGAC	0.612000													4	6					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135012305	135012305	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:135012305G>A	ENST00000304613.3	+	14	2314	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	KNDC1_ENST00000368572.2_Missense_Mutation_p.A765T|KNDC1_ENST00000368571.2_Missense_Mutation_p.A700T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	765	Pro-rich.				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)		TCCACCCCAGGCCCCAGCAAA	0.736000													3	7					0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49950762	49950762	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:49950762C>T	ENST00000417270.1	-	3	735	c.42G>A	c.(40-42)caG>caA	p.Q14Q	MON1A_ENST00000455683.2_Silent_p.Q103Q|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.Q103Q|MON1A_ENST00000483022.1_5'UTR			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	6							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTCTTCCTCTGCATGTCAG	0.512000													26	29					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534946	96534946	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:96534946C>T	ENST00000371321.3	+	2	382	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	100					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGGCCATTTCCCACTGGCTG	0.498000													37	80					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196879440	196879440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:196879440C>T	ENST00000367416.2	+	6	963	c.826C>T	c.(826-828)Caa>Taa	p.Q276*	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Nonsense_Mutation_p.Q30*	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCCAGAAATTCAACATGGACA	0.333000													7	8					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460166	107460166	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:107460166G>A	ENST00000409382.3	-	2	878	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H90Y|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.H90Y	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	90					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.H90Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGCCCCGCATGAAAGGAACCG	0.627000													7	32					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991364	70991364	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70991364G>A	ENST00000256389.3	-	2	505	c.261C>T	c.(259-261)ttC>ttT	p.F87F	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	37					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CTGGAGAAGTGAAATACTGGG	0.552000													21	33					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567157	4567157	+	Missense_Mutation	SNP	C	C	T	rs145064459	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4567157C>T	ENST00000360213.1	+	1	737	c.737C>T	c.(736-738)tCt>tTt	p.S246F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACATGCGCTTCTCACCTCTGT	0.517000													29	65					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567247	45567247	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:45567247C>T	ENST00000588982.1	-	3	733	c.232G>A	c.(232-234)Gac>Aac	p.D78N	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.D78N|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.D78N|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.D78N|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.D78N			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	78	BTB.					intracellular	nucleic acid binding|zinc ion binding	p.D78N(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGACAAAGTCGATCTCATAG	0.587000													16	44					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166904703	166904703	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:166904703C>T	ENST00000271417.3	-	6	770	c.715G>A	c.(715-717)Ggg>Agg	p.G239R	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G220R|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.G239R|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000525740.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	239						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCTGCTTTCCCTGCTTCATAC	0.582000													6	19					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48335322	48335322	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:48335322C>T	ENST00000435803.1	+	21	9005	c.8981C>T	c.(8980-8982)cCg>cTg	p.P2994L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2994					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGTCCTCGCCGAATCAGCTA	0.393000													16	39					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338648	13338648	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:13338648C>T	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						CAAAGTGATCCTCCACCTTAA	0.483000													21	32					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189329	11189329	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:11189329C>T	ENST00000382435.4	+	1	933	c.714C>T	c.(712-714)ctC>ctT	p.L238L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	238						integral to membrane											TGCCAGGCCTCTTTGTGCTGC	0.607000													3	36					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115401232	115401232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:115401232G>A	ENST00000369522.3	+	6	596	c.356G>A	c.(355-357)tGg>tAg	p.W119*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.W119*	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	119					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAAAAATGGAAAGTAAGT	0.328000													13	47					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12647717	12647717	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12647717G>A	ENST00000425538.1	+	8	1135	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	MYOCD_ENST00000343344.4_Missense_Mutation_p.R312Q|MYOCD_ENST00000395988.1_Missense_Mutation_p.R216Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	312	Gln-rich.				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)		cagcaacaCCGATTCAGCTAC	0.572000													6	8					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1116088	1116088	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:1116088G>A	ENST00000361757.3	-	17	2054	c.1817C>T	c.(1816-1818)tCg>tTg	p.S606L	SBNO2_ENST00000587024.1_Missense_Mutation_p.S596L|SBNO2_ENST00000438103.2_Missense_Mutation_p.S549L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	606					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CTGAATTAGCGACAGGAACAC	0.617000													21	37					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029727	71029727	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:71029727T>A	ENST00000334414.6	-	2	219	c.175A>T	c.(175-177)Aag>Tag	p.K59*	PTPRB_ENST00000551525.1_Nonsense_Mutation_p.K58*|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.K59*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAAGGAGCTTTTCATCCTCA	0.537000													9	14					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936029	4936029	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4936029G>A	ENST00000322013.3	-	1	893	c.865C>T	c.(865-867)Cct>Tct	p.P289S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACAGGAGGAAAGAGAAGA	0.493000													15	19					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967931	106967931	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:106967931C>T	ENST00000369066.3	+	2	2111	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	542							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGTGAGTGTCCATCCAGAGT	0.532000													16	8					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579062	58579062	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58579062C>T	ENST00000506786.1	+	5	1638	c.1084C>T	c.(1084-1086)Cac>Tac	p.H362Y	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.H416Y|ZNF135_ENST00000439855.2_Missense_Mutation_p.H404Y|ZNF135_ENST00000401053.4_Missense_Mutation_p.H428Y|ZNF135_ENST00000313434.5_Missense_Mutation_p.H404Y			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	416					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGAGGACCCACACAGGAGA	0.547000													16	52					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998105	27998105	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:27998105C>T	ENST00000441525.1	-	1	1461	c.1347G>A	c.(1345-1347)cgG>cgA	p.R449R		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	449										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAAACTCACTCCGGGGGCCAT	0.458000													13	1					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69750933	69750933	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:69750933G>A	ENST00000395198.3	-	12	1542	c.1295C>T	c.(1294-1296)tCc>tTc	p.S432F	HERC4_ENST00000373700.4_Missense_Mutation_p.S432F|HERC4_ENST00000412272.2_Missense_Mutation_p.S432F|HERC4_ENST00000277817.6_Missense_Mutation_p.S322F|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	432					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GCAACCAGAGGAAGAAAACGT	0.244000													15	30					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	77010657	77010657	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:77010657G>A	ENST00000257626.7	-	8	619	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		ACATGGATACGAAATTGTTCA	0.294000													16	28					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390960	89390960	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:89390960C>T	ENST00000336596.2	+	5	1251	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	EPHA3_ENST00000452448.2_Silent_p.I342I|EPHA3_ENST00000494014.1_Silent_p.I342I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	342	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTCAGTTATCCTGGACTGGA	0.413000										TSP Lung(6;0.00050)			27	43					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68788632	68788632	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:68788632C>T	ENST00000508048.1	-	7	565	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.R181Q|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R178Q|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	181					cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGGAACAACTCGTTTACCACA	0.413000													24	38					0	0	1	0	0
TRAPPC2L	51693	broad.mit.edu	37	16	88926363	88926363	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:88926363G>A	ENST00000565504.1	+	4	381	c.357G>A	c.(355-357)ggG>ggA	p.G119G	TRAPPC2L_ENST00000301021.3_Silent_p.G119G|TRAPPC2L_ENST00000567312.1_Silent_p.G89G|TRAPPC2L_ENST00000567895.1_Silent_p.G89G|TRAPPC2L_ENST00000561840.1_Silent_p.G109G|TRAPPC2L_ENST00000568583.1_Silent_p.G119G|TRAPPC2L_ENST00000564365.1_Silent_p.G38G			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	119					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		ACAACCCGGGGGACCGCATCC	0.512000													40	65					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39777124	39777124	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:39777124G>A	ENST00000540235.1	-	9	1444	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	KRT17_ENST00000311208.8_Missense_Mutation_p.S323F			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCCTCCAGGGATGCTTTCTG	0.622000													26	29					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984133	85984133	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:85984133G>A	ENST00000372113.4	-	2	853	c.848C>T	c.(847-849)tCc>tTc	p.S283F	LRIT2_ENST00000538192.1_Missense_Mutation_p.S283F	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	283	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCATGCAATGGATGGTGAGGG	0.532000													17	39					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306874	54306874	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54306874G>A	ENST00000545554.1	+	1	1774	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E592K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E592K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	592					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGGAAACAGGAAGGAACAGC	0.458000													10	35					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35247658	35247658	+	Splice_Site	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:35247658A>C	ENST00000381318.3	+	34	4462	c.4173_splice	c.e34-1	p.I1392_splice	ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Splice_Site_p.I1387_splice|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Splice_Site_p.I1392_splice	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1392	DH.				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 vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCCTGTGTAGATCCTGGAAAA	0.592000													24	30					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143515	56143515	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:56143515G>A	ENST00000302270.1	+	1	416	c.416G>A	c.(415-417)gGa>gAa	p.G139E		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					ATGACTCCAGGAATCTGCATT	0.443000													17	54					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50256544	50256544	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:50256544G>A	ENST00000332853.3	-	6	777	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	252						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACTGCGGGAGGAATGTCAGGC	0.527000													19	65					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40947807	40947807	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:40947807C>T	ENST00000313164.9	+	8	1201	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	281	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGGAGCTTTCCCACCTCCCC	0.448000													16	28					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589877	26589877	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:26589877G>A	ENST00000376261.3	+	16	2248	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	GAD2_ENST00000259271.3_Missense_Mutation_p.G582E	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	582					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)	GAACGCCTTGGACAAGATTTA	0.418000													30	45					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51735315	51735315	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:51735315A>G	ENST00000371117.3	-	47	7748	c.7473T>C	c.(7471-7473)tgT>tgC	p.C2491C	PKHD1_ENST00000340994.4_Silent_p.C2491C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2491					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCCTTGGGAACAGTCTGAAC	0.353000													18	79					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703912	18703912	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:18703912G>A	ENST00000251296.1	+	9	1703	c.1320G>A	c.(1318-1320)acG>acA	p.T440T		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	440						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CAAGAGGAACGGAGGACTCTA	0.483000													37	58					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371693	76371693	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:76371693G>T	ENST00000407242.2	-	3	1186	c.944C>A	c.(943-945)tCc>tAc	p.S315Y	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.S315Y|LRRC32_ENST00000404995.1_Missense_Mutation_p.S315Y|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	315						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAGAGCTGGGAAAGGGGGCG	0.617000													5	14					0.0215528	0.0215733	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157873990	157873990	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:157873990C>T	ENST00000389413.3	-	10	1739	c.1636_splice	c.e10+1	p.V546_splice	PTPRN2_ENST00000389418.4_Splice_Site_p.V575_splice|PTPRN2_ENST00000389416.4_Splice_Site_p.V558_splice|PTPRN2_ENST00000409483.1_Splice_Site_p.V537_splice|PTPRN2_ENST00000404321.2_Splice_Site_p.V598_splice	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	575						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACAGCCTCACCTGTGGCCTTC	0.532000													17	67					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570050	22570050	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:22570050C>T	ENST00000510882.2	+	1	256	c.246C>T	c.(244-246)atC>atT	p.I82I	HDGFL1_ENST00000230012.3_Silent_p.I82I			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	82										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TGTGGGAAATCGAGAACAACC	0.652000													13	4					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69681168	69681168	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:69681168C>T	ENST00000349945.1	+	5	1761	c.209C>T	c.(208-210)cCa>cTa	p.P70L	NFAT5_ENST00000567239.1_Missense_Mutation_p.P164L|NFAT5_ENST00000432919.1_Missense_Mutation_p.P164L|NFAT5_ENST00000393742.2_Missense_Mutation_p.P70L|NFAT5_ENST00000354436.2_Missense_Mutation_p.P146L|NFAT5_ENST00000566899.1_Missense_Mutation_p.P70L	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	146	Ser-rich.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TACATCTCACCACCACCTGAG	0.507000													35	54					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1993429	1993429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:1993429C>T	ENST00000382722.5	-	12	1693	c.1331G>A	c.(1330-1332)tGg>tAg	p.W444*	CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.W380*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.W444*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.W444*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.W380*|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	444	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCATGCAATCCACTTCATGCG	0.542000													11	16					0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202128589	202128589	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:202128589G>A	ENST00000367279.4	-	1	530	c.59C>T	c.(58-60)tCt>tTt	p.S20F	PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000544762.1_Intron	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	0						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTGCCTGAAAGACAGGGCCCT	0.637000													18	23					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143386	55143386	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:55143386G>A	ENST00000396331.1	+	6	716	c.358_splice	c.e6-1	p.G120_splice	LILRB1_ENST00000448689.1_Splice_Site_p.G120_splice|LILRB1_ENST00000418536.2_Splice_Site_p.G120_splice|LILRB1_ENST00000324602.7_Splice_Site_p.G120_splice|LILRB1_ENST00000396332.4_Splice_Site_p.G120_splice|LILRB1_ENST00000427581.2_Splice_Site_p.G156_splice|LILRB1_ENST00000396315.1_Splice_Site_p.G120_splice|LILRB1_ENST00000396317.1_Splice_Site_p.G120_splice|LILRB1_ENST00000396321.2_Splice_Site_p.G120_splice|LILRB1_ENST00000434867.2_Splice_Site_p.G120_splice|LILRB1_ENST00000396327.3_Splice_Site_p.G120_splice	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	120	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTCTCCTAGGAGCCTACATC	0.607000										HNSCC(37;0.09)			44	71					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498710	118498710	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:118498710C>T	ENST00000361417.2	+	7	1582	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S	PHLDB1_ENST00000356063.5_Missense_Mutation_p.P391S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	391										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGTCCCTGCTCCCCGAAACAA	0.607000													53	116					0	0	1	0	0
IGFBP6	3489	broad.mit.edu	37	12	53495840	53495840	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53495840C>T	ENST00000548547.1	+	4	888	c.606C>T	c.(604-606)tcC>tcT	p.S202S	IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000301464.3_Silent_p.S204S			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	204	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCCGCTCCTCCCAGGGGCAGC	0.612000													17	37					0	0	1	0	0
MIR520E	574461	broad.mit.edu	37	19	54178988	54178988	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:54178988G>A	ENST00000384867.1	+	0	24					NR_030183.1																						CCCTCAAGATGGAAGCAGTTT	0.433000													14	33					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170151151	170151151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:170151151C>T	ENST00000263816.3	-	5	782	c.497G>A	c.(496-498)tGg>tAg	p.W166*	LRP2_ENST00000443831.1_Nonsense_Mutation_p.W166*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	166	LDL-receptor class A 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCAACTTTCCAATCACACTT	0.393000													22	40					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754666	141754666	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:141754666C>T	ENST00000475668.2	+	27	3326	c.3272C>T	c.(3271-3273)cCa>cTa	p.P1091L	MGAM_ENST00000549489.2_Missense_Mutation_p.P1091L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1091	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAAGAATCCATTTGGGATT	0.488000													30	121					0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102787	13102787	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:13102787G>A	ENST00000228887.1	-	1	531	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.L178F|RP11-392P7.6_ENST00000394742.3_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	178						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATCAGGAAGAGGACATAGACC	0.488000													17	28					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025340	176025340	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:176025340G>A	ENST00000303991.4	-	2	1673	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	499						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCCCCAAGGACCTGGGATC	0.552000													23	43					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67939074	67939074	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:67939074C>T	ENST00000252336.6	+	6	1855	c.1483C>T	c.(1483-1485)Cgt>Tgt	p.R495C	STARD8_ENST00000374599.3_Missense_Mutation_p.R575C|STARD8_ENST00000374597.3_Missense_Mutation_p.R495C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	495					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAGGAAGCTCCGTTGGCATAG	0.562000													12	4					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776681	13776681	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13776681C>T	ENST00000265104.4	-	55	9344	c.9240G>A	c.(9238-9240)caG>caA	p.Q3080Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3080	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATGAAGGTTCTGTCGGACCC	0.468000									Kartagener syndrome				24	32					0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576716	115576716	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:115576716T>A	ENST00000256592.1	+	3	353	c.285T>A	c.(283-285)ttT>ttA	p.F95L	TSHB_ENST00000369517.1_Missense_Mutation_p.F95L	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	95					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CTCCCTATTTTTCCTATCCTG	0.428000													74	129					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51129274	51129274	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51129274C>T	ENST00000338916.4	-	5	1915	c.1281_splice	c.e5-1	p.E428_splice	SYT3_ENST00000600079.1_Splice_Site_p.E428_splice|SYT3_ENST00000593901.1_Splice_Site_p.E428_splice|SYT3_ENST00000544769.1_Splice_Site_p.E428_splice	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	428						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCTGCTTTTTCCTGCAGTTGG	0.547000													13	17					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55033569	55033569	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:55033569C>T	ENST00000371336.3	+	6	2328	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	CASS4_ENST00000360314.3_Silent_p.V709V|CASS4_ENST00000434344.1_Silent_p.V272V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	709					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCAAGCTGGTCATCATGGTGG	0.617000													38	75					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14748562	14748562	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:14748562G>A	ENST00000380881.4	-	32	6451	c.5636C>T	c.(5635-5637)cCc>cTc	p.P1879L	FREM1_ENST00000380894.1_Missense_Mutation_p.P414L|FREM1_ENST00000422223.2_Missense_Mutation_p.P1878L|FREM1_ENST00000380880.3_Missense_Mutation_p.P1878L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1878					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGACCCTGGGGGCAGCAGATG	0.537000													75	149					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55119800	55119800	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:55119800G>A	ENST00000414150.2	+	3	1479	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	MROH7_ENST00000421030.2_Missense_Mutation_p.D401N|MROH7_ENST00000395690.2_Missense_Mutation_p.D401N|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.D401N|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron					maestro heat-like repeat family member 7																		CGCAGGCAAGGACGCCGTGAC	0.597000													7	8					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103182757	103182757	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:103182757C>T	ENST00000375735.2	+	79	11788	c.11644C>T	c.(11644-11646)Cct>Tct	p.P3882S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P3889S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3882	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAACTATATTCCTCAGGTAAG	0.363000													20	44					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428785	139428785	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:139428785C>T	ENST00000272641.3	-	2	608	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	168	III.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ACTTCAAATTCCACCACCTTG	0.458000													8	14					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620638	46620638	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:46620638C>T	ENST00000330070.4	-	2	2030	c.863G>A	c.(862-864)gGg>gAg	p.G288E		NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	288					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TGGCAATGGCCCGGGCTCCAG	0.692000													4	8					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56230884	56230884	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:56230884G>A	ENST00000394182.1	-	4	604	c.605C>T	c.(604-606)cCc>cTc	p.P202L	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.P488L|MMP19_ENST00000548629.1_Missense_Mutation_p.P465L			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	488					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CGTACCTGAGGGAGTGGTATT	0.498000													83	165					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42873925	42873925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:42873925C>A	ENST00000025301.2	+	8	1218	c.1043C>A	c.(1042-1044)tCa>tAa	p.S348*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	348					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATAGAGGATTCAGACTCAGAA	0.348000													9	18					7.48243e-07	7.5289e-07	1	1	0
B4GALT5	9334	broad.mit.edu	37	20	48263558	48263558	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:48263558G>A	ENST00000371711.4	-	3	495	c.308C>T	c.(307-309)cCt>cTt	p.P103L		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	103					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GAAGTCTTCAGGAAGAAATGT	0.438000													41	91					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197535	32197535	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:32197535C>T	ENST00000375250.5	-	3	490	c.249G>A	c.(247-249)caG>caA	p.Q83Q	ARHGAP12_ENST00000344936.2_Silent_p.Q83Q|ARHGAP12_ENST00000311380.4_Silent_p.Q83Q|ARHGAP12_ENST00000396144.4_Silent_p.Q83Q|ARHGAP12_ENST00000375245.4_Silent_p.Q83Q	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	83					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GACCAGCTACCTGCTTAACAG	0.458000													11	30					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41427717	41427717	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:41427717C>T	ENST00000400454.1	-	29	5447	c.4970G>A	c.(4969-4971)cGa>cAa	p.R1657Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1657					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATGTGCATTCGCAGGGTCTG	0.448000													59	116					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090748	9090748	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9090748G>A	ENST00000397910.4	-	1	1270	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	356	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						CTGCTTTGTGGATATTGATGG	0.483000													12	23					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962208	151962208	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:151962208G>A	ENST00000355193.2	-	8	1317	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.H367Y					lysine (K)-specific methyltransferase 2C									p.H367Y(2)									CACATTCCATGATAGTGCTGA	0.448000													49	504					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633403	39633403	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:39633403G>A	ENST00000246639.2	-	7	1315	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	KRT35_ENST00000393989.1_Missense_Mutation_p.P425S			Q92764	KRT35_HUMAN	keratin 35	425	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGAAGACAGGGAAGGCATGAC	0.562000													19	33					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065638	73065638	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73065638G>A	ENST00000429829.1	-	0	6950					NR_001564.2																						GGAAGGGAAAGGAAGACTGGG	0.498000													10	8					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901894	40901894	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:40901894C>T	ENST00000324001.7	-	7	2635	c.2365G>A	c.(2365-2367)Gca>Aca	p.A789T	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	789					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTGTTCTGCCTTGGTGGCC	0.597000													41	76					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274237	103274237	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:103274237G>A	ENST00000233969.2	+	2	646	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	168						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACATTGGCACGATTTTCTGGT	0.488000													97	178					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124190000	124190000	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124190000G>A	ENST00000357438.2	-	1	184	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATATTCCAAGGAACAGGAGG	0.458000													42	53					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066020	73066020	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73066020G>A	ENST00000429829.1	-	0	6568					NR_001564.2																						ACCAGGCCAGGAAAAAGGGCC	0.498000													29	17					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140777335	140777335	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:140777335G>A	ENST00000371372.1	+	3	675	c.530_splice	c.e3+1	p.G177_splice	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Splice_Site_p.G177_splice|CACNA1B_ENST00000371363.1_Splice_Site_p.G177_splice|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Splice_Site_p.G177_splice|CACNA1B_ENST00000371355.4_Splice_Site_p.G177_splice	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	177					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTCCTCACAGGGTAGGCAAGC	0.622000													22	133					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997989	45997989	+	Silent	SNP	G	G	A	rs146872063		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:45997989G>A	ENST00000245923.4	-	3	589	c.354C>T	c.(352-354)tcC>tcT	p.S118S	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.S118S|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	118						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CAGGCTCCGGGGATTGGCTCA	0.697000													22	40					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196801025	196801025	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:196801025G>A	ENST00000320493.5	+	6	977	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.E238K	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	297	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGAATCAGCTGAATTTGTGTG	0.398000													51	27					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801193	185801193	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:185801193G>A	ENST00000302277.6	+	4	1664	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	357						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAGTTGTTAGGAAATAAATCC	0.368000													9	33					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94487012	94487012	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:94487012C>T	ENST00000375708.3	-	9	1962	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E	ROR2_ENST00000375715.1_Silent_p.E448E|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	588	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGTCGGGGGGCTCCAGGGCGG	0.647000													21	10					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25600813	25600813	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:25600813T>A	ENST00000329474.6	+	33	3759	c.3391T>A	c.(3391-3393)Tcc>Acc	p.S1131T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1131					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AACACCTGACTCCTTTGAAGA	0.552000													12	41					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100552570	100552570	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:100552570C>T	ENST00000397112.4	-	0	1600					NR_036632.1															large_intestine(1)|lung(3)	4						GAGCAGTCTCCGGTACCTTCC	0.562000													10	14					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795656	15795656	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:15795656G>A	ENST00000550308.1	+	8	1329	c.949G>A	c.(949-951)Gat>Aat	p.D317N	CYP4F12_ENST00000324632.9_Missense_Mutation_p.D317N	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTCAGATGAGGATATAAGAGC	0.498000													20	47					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630129	11630129	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:11630129C>T	ENST00000423059.3	-	4	1662	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	471	TSP type-1 4.					integral to membrane		p.E471K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGGAGGTTTTCGTTGGCCTGC	0.522000										HNSCC(18;0.044)			9	37					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732133	119732133	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:119732133G>A	ENST00000541757.1	+	7	751	c.371G>A	c.(370-372)gGa>gAa	p.G124E	MARCO_ENST00000327097.4_Missense_Mutation_p.G202E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	202					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G202A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGTCAAGGGAGAGGCGGGT	0.567000													7	18					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187204	98187204	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:98187204C>T	ENST00000370192.3	-	5	445	c.345G>A	c.(343-345)atG>atA	p.M115I	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000306031.5_Missense_Mutation_p.M115I|DPYD_ENST00000423006.2_Missense_Mutation_p.M78I	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	115					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAGAAAATATCATCTTAGCAG	0.333000													21	50					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379428	121379428	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:121379428G>A	ENST00000297848.3	+	46	5366	c.5096G>A	c.(5095-5097)gGa>gAa	p.G1699E	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1604E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1699E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1699	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTATCAAAGGAGAAAAAGGA	0.368000													30	9					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226273727	226273727	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:226273727G>A	ENST00000272907.6	+	2	544	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	NYAP2_ENST00000409269.2_Missense_Mutation_p.R44Q	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	44																	GATATTGCTCGAGAGAATGAT	0.408000													13	33					0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:30795310C>T	ENST00000013222.5	+	3	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.S211F	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000													16	30					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174573	63174573	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:63174573G>A	ENST00000322893.7	-	11	2888	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	874					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTATCCAAACGAAGGTCACTT	0.507000													25	52					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329591	33329591	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:33329591G>A	ENST00000374796.2	-	12	7039	c.4469C>T	c.(4468-4470)tCg>tTg	p.S1490L	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1490L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1490					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGACTTAACGATGTTGGTGC	0.473000													29	42					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57587368	57587368	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:57587368G>C	ENST00000243077.3	+	47	8170	c.7704G>C	c.(7702-7704)aaG>aaC	p.K2568N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2568	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTGCAAGAAGACTTTCCGGC	0.607000													3	38					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210012343	210012343	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:210012343C>T	ENST00000491415.2	+	7	1209	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	384					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGAAGAAAATCATTGTGAGCA	0.502000													31	63					0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23669535	23669535	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:23669535C>T	ENST00000217423.3	-	1	142	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	24						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TATTCTCCTCCTTGGAGCTCG	0.572000													18	44					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515104	56515104	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56515104C>T	ENST00000390649.3	+	2	85	c.85C>T	c.(85-87)Cct>Tct	p.P29S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	29						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCCACAGGTCCTACTTGCTC	0.428000													15	37					0	0	1	0	0
TRGV2	6974	broad.mit.edu	37	7	38402961	38402961	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:38402961G>A	ENST00000426402.2	-	0	158																											GAAGGAAAGGGACCAGATGAA	0.537000													13	20					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112661	81112661	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81112661C>T	ENST00000228644.3	+	3	751	c.599C>T	c.(598-600)tCc>tTc	p.S200F		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	200					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GATAAAAACTCCTTATCCAGC	0.418000													17	57					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461704	50461704	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50461704C>T	ENST00000447370.2	-	8	1577	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	496					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)		ACTGCTGTTCCCCTCCAGCAG	0.701000													6	11					0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20490545	20490545	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:20490545C>T	ENST00000346618.3	+	7	1348	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S	E2F3_ENST00000535432.1_Missense_Mutation_p.P297S	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	428	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTTACTGCCTCCCCTGCTGCA	0.537000													40	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486272	179486272	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179486272G>A	ENST00000589042.1	-	245	45503	c.45279C>T	c.(45277-45279)caC>caT	p.H15093H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.H6028H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.H13452H|TTN_ENST00000342992.6_Silent_p.H12525H|TTN_ENST00000342175.6_Silent_p.H6220H|TTN_ENST00000359218.5_Silent_p.H6153H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13452	Fibronectin type-III 9.						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)			CATCCTCAAGGTGAGCGTTCT	0.418000													13	24					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50157994	50157994	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50157994C>T	ENST00000360565.3	+	9	3609	c.3485C>T	c.(3484-3486)tCc>tTc	p.S1162F		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1162					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCTGGCCCCTCCAGCTACCTG	0.677000													33	55					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141299440	141299440	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141299440T>C	ENST00000389484.3	-	44	8266	c.7295A>G	c.(7294-7296)aAc>aGc	p.N2432S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2432					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGTACTTGTTGGACCGCAG	0.428000										TSP Lung(27;0.18)			35	71					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103206742	103206742	+	Missense_Mutation	SNP	C	C	T	rs114306581	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:103206742C>T	ENST00000424685.2	-	33	5024	c.4865G>A	c.(4864-4866)cGa>cAa	p.R1622Q	RELN_ENST00000343529.5_Missense_Mutation_p.R1622Q|RELN_ENST00000428762.1_Missense_Mutation_p.R1622Q			P78509	RELN_HUMAN	reelin	1622					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTTGGATTCGATACCAGTT	0.378000													29	42					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50805720	50805720	+	Missense_Mutation	SNP	G	G	A	rs80338915		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:50805720G>A	ENST00000263046.4	+	6	1047	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.R285Q			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	285					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGATCTTTGCGAGAAAGGCTA	0.438000													79	110					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588393	247588393	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:247588393C>T	ENST00000366497.2	+	4	2428	c.1648C>T	c.(1648-1650)Cgt>Tgt	p.R550C	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R550C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R550C|NLRP3_ENST00000348069.2_Missense_Mutation_p.R550C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R550C|NLRP3_ENST00000336119.3_Missense_Mutation_p.R550C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	550					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCAGGGAGTCGTTTGAAGCT	0.473000													10	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433331	179433331	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179433331C>T	ENST00000589042.1	-	326	77752	c.77528G>A	c.(77527-77529)aGa>aAa	p.R25843K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16778K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24202K|TTN_ENST00000342992.6_Missense_Mutation_p.R23275K|TTN_ENST00000342175.6_Missense_Mutation_p.R16970K|TTN_ENST00000359218.5_Missense_Mutation_p.R16903K|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24202	Fibronectin type-III 88.						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)			AACATTGATTCTTGTGGTCTG	0.423000													35	72					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538448	39538448	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:39538448G>A	ENST00000394001.1	-	1	207	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	59	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGGCCGGGAGGAGCAGCTGG	0.622000													20	30					0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128429119	128429119	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:128429119C>T	ENST00000465342.2	+	2	2165	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.V336V			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	336						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						ACTCCTCAGTCCCTTTCCCTG	0.587000													11	0					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141421	63141421	+	Missense_Mutation	SNP	C	C	T	rs150640442		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:63141421C>T	ENST00000310969.4	+	3	830	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	SLC22A9_ENST00000279178.3_Silent_p.C239C			Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	0					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGGGAATGTGCCCTTCTGGTA	0.478000													12	43					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10906979	10906979	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:10906979G>A	ENST00000298232.7	-	23	1895	c.1528C>T	c.(1528-1530)Cca>Tca	p.P510S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P528S|TPTE_ENST00000342420.5_Missense_Mutation_p.P490S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	528	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATCTGATGGATAAATTCTC	0.368000													12	74					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100519	17100519	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:17100519G>A	ENST00000443236.1	-	13	1501	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	443						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCTGCCGAGGGAGAGGTAGC	0.597000													19	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595517	179595517	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179595517G>A	ENST00000589042.1	-	61	17967	c.17743C>T	c.(17743-17745)Ctt>Ttt	p.L5915F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L5598F|TTN_ENST00000342992.6_Missense_Mutation_p.L4671F|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5598	Ig-like 40.						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)			GGTATGATAAGATCTATTCAA	0.313000													15	41					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19036100	19036100	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:19036100G>A	ENST00000263196.7	-	7	1106	c.859C>T	c.(859-861)Cct>Tct	p.P287S	DGCR2_ENST00000537045.1_Missense_Mutation_p.P246S|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	287	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCCCCCTTAGGGGTGAAGTAG	0.527000													298	235					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91647655	91647655	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:91647655C>T	ENST00000518868.1	+	11	1546	c.856C>T	c.(856-858)Cct>Tct	p.P286S	C14orf159_ENST00000428926.2_Missense_Mutation_p.P281S|C14orf159_ENST00000412671.2_Missense_Mutation_p.P286S|C14orf159_ENST00000520328.1_Missense_Mutation_p.P269S|C14orf159_ENST00000525393.2_Missense_Mutation_p.P157S|C14orf159_ENST00000523816.1_Missense_Mutation_p.P281S|C14orf159_ENST00000256324.10_Missense_Mutation_p.P286S|C14orf159_ENST00000523771.1_Missense_Mutation_p.P281S|C14orf159_ENST00000522322.1_Missense_Mutation_p.P281S|C14orf159_ENST00000521077.2_Missense_Mutation_p.P286S			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	281						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TTCCCAAGATCCTCTGCACTA	0.498000													12	44					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4131033	4131033	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:4131033C>T	ENST00000465828.1	-	3	475	c.190G>A	c.(190-192)Gac>Aac	p.D64N	ECI2_ENST00000380118.3_Missense_Mutation_p.D94N|ECI2_ENST00000361538.2_Missense_Mutation_p.D64N|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.D64N|C6orf201_ENST00000380175.4_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	94	ACB.				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						TTCCATGCGTCCCATTTGGCC	0.448000													60	206					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43440216	43440216	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:43440216G>A	ENST00000282041.5	-	40	6896	c.6862C>T	c.(6862-6864)Ctt>Ttt	p.L2288F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2288					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGCCCCGAAGGAACTCTGCT	0.567000													30	97					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9172244	9172244	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:9172244G>A	ENST00000328194.3	-	14	2909	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	DENND5A_ENST00000530044.1_Silent_p.S863S|DENND5A_ENST00000527700.1_Silent_p.S206S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	863	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTGAATCAGGGAGATCCTCA	0.433000													16	53					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54320183	54320183	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:54320183C>T	ENST00000231009.2	+	1	103	c.33C>T	c.(31-33)ttC>ttT	p.F11F	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596909.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	11					proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCTGTTTTTCCTAATAGTTG	0.303000													12	23					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75246812	75246812	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:75246812G>A	ENST00000244869.2	+	3	402	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	79	EGF-like.				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TGTTTGCATGGACAGTGCATC	0.373000													52	103					0	0	1	0	0
IGLV5-37	28783	broad.mit.edu	37	22	22782361	22782361	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:22782361G>A	ENST00000390300.2	+	0	364																											ATTTGGCCAAGCAATGCTTCT	0.408000													163	125					0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51507024	51507024	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51507024G>T	ENST00000376832.4	-	4	572	c.539C>A	c.(538-540)cCt>cAt	p.P180H	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Missense_Mutation_p.P180H|KLK9_ENST00000250366.6_Missense_Mutation_p.P180H	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	180	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GATGTGTCCAGGGTATGCCCA	0.572000													3	67					1	1	1	1	0
ADORA2A	135	broad.mit.edu	37	22	24836677	24836677	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:24836677G>A	ENST00000337539.7	+	3	918	c.459G>A	c.(457-459)aaG>aaA	p.K153K	ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	153					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	AGGAGGGCAAGAACCACTCCC	0.572000													226	181					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27492429	27492429	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:27492429G>A	ENST00000356183.4	-	27	4182	c.4167C>T	c.(4165-4167)atC>atT	p.I1389I	GTF3C1_ENST00000561623.1_Silent_p.I1389I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1389						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTGTGTCTGGGATTTCAAGGT	0.483000													31	56					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128363492	128363492	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:128363492A>G	ENST00000389524.4	+	20	2466	c.2413A>G	c.(2413-2415)Aat>Gat	p.N805D	MYO7B_ENST00000428314.1_Missense_Mutation_p.N805D|MYO7B_ENST00000409816.2_Missense_Mutation_p.N805D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	805	IQ 3.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAACAGGAGGAATTTCAAGCT	0.557000													12	17					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51129154	51129154	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51129154C>T	ENST00000338916.4	-	5	2035	c.1402_splice	c.e5+1	p.D468_splice	SYT3_ENST00000600079.1_Splice_Site_p.D468_splice|SYT3_ENST00000593901.1_Splice_Site_p.D468_splice|SYT3_ENST00000544769.1_Splice_Site_p.D468_splice	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	468	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		ggACCCTCACCTGAGAAGCCA	0.647000													4	16					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9739402	9739402	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:9739402G>C	ENST00000296003.4	+	18	1743	c.1621G>C	c.(1621-1623)Gac>Cac	p.D541H	MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	541						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CAGATCAGTGGACCATCCCCT	0.612000													73	125					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566965	136566965	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:136566965G>A	ENST00000264162.2	-	8	2962	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	984	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCCAGTTGGGAAAATCCGAG	0.493000													14	33					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48335321	48335321	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:48335321C>T	ENST00000435803.1	+	21	9004	c.8980C>T	c.(8980-8982)Ccg>Tcg	p.P2994S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2994					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGGTCCTCGCCGAATCAGCT	0.388000													16	39					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807098	143807098	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:143807098G>A	ENST00000408979.2	+	1	492	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T141T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GAGTGTGCACGATCCTGGTTC	0.522000													28	118					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262349	61262349	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:61262349G>A	ENST00000344731.5	+	7	804	c.702G>A	c.(700-702)ggG>ggA	p.G234G	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	234					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAATTCTAGGGATTCCATATA	0.423000													58	46					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149994	34149994	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:34149994G>A	ENST00000346193.3	-	1	453	c.402C>T	c.(400-402)taC>taT	p.Y134Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	134										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCAGATTGGGGTACATGGCCA	0.557000													23	12					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87967415	87967415	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:87967415C>T	ENST00000307808.6	+	2	535	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.P46S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	39						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGAAAAGATTCCCCTTTTTGG	0.403000													46	110					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760009	54760009	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:54760009G>A	ENST00000450632.1	-	4	602	c.525C>T	c.(523-525)ccC>ccT	p.P175P	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.P184P|LILRB5_ENST00000449561.2_Silent_p.P184P			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	184	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGGTCACGGGACCCACAG	0.557000													12	21					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39587713	39587713	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:39587713G>A	ENST00000352251.3	-	11	2509	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S537F	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	559	Ser-rich.																GGCTAAAGGAGACTGTACAGG	0.597000													19	48					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56465910	56465910	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56465910C>T	ENST00000291971.3	+	3	557	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NLRP8_ENST00000590542.1_Silent_p.F162F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	162						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAAAGTTTTTCCCCATATGGG	0.443000													34	53					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101821817	101821817	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:101821817C>T	ENST00000360264.3	+	11	950	c.930C>T	c.(928-930)atC>atT	p.I310I	CUX1_ENST00000437600.4_Silent_p.I308I|CUX1_ENST00000292535.7_Silent_p.I299I|CUX1_ENST00000292538.4_Silent_p.I310I|CUX1_ENST00000425244.2_Silent_p.I264I|CUX1_ENST00000393824.3_Silent_p.I271I|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Silent_p.I299I|CUX1_ENST00000550008.2_Silent_p.I299I|CUX1_ENST00000549414.2_Silent_p.I299I|CUX1_ENST00000547394.2_Silent_p.I294I|CUX1_ENST00000546411.2_Silent_p.I299I	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	299					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCGGGAGATCGCACAGCTGG	0.607000													6	15					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961873	1961873	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:1961873C>T	ENST00000454677.2	-	2	863	c.798G>A	c.(796-798)ggG>ggA	p.G266G	HS3ST6_ENST00000293937.3_Silent_p.G249G|HS3ST6_ENST00000443547.1_Silent_p.G218G			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	218										endometrium(2)|lung(2)	4						CCAGACGCTCCCCGCTGACGA	0.662000													27	35					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105404212	105404212	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:105404212G>A	ENST00000264122.4	-	14	2474	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	CBLB_ENST00000405772.1_Missense_Mutation_p.S718F|CBLB_ENST00000403724.1_Missense_Mutation_p.S718F|CBLB_ENST00000394027.3_Missense_Mutation_p.S740F	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	718	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGAATTCAGGGAAACAGGGTG	0.403000			Mis S		AML								27	57					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75072263	75072263	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:75072263C>T	ENST00000310715.3	-	11	1381	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	TTC18_ENST00000394865.1_Missense_Mutation_p.D421N|TTC18_ENST00000401621.2_Missense_Mutation_p.D421N|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	421							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCATCTATATCCTTTTCTTTC	0.383000													43	83					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61959705	61959705	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:61959705C>T	ENST00000422202.1	+	33	3743	c.3675C>T	c.(3673-3675)tcC>tcT	p.S1225S	COL20A1_ENST00000435874.1_Silent_p.S1225S|COL20A1_ENST00000358894.6_Silent_p.S1212S|COL20A1_ENST00000326996.6_Silent_p.S1244S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1212					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGTTCGACTCCTTCCACGAGA	0.677000													4	13					0	0	1	0	0
ZNF417	147687	broad.mit.edu	37	19	58420091	58420091	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58420091G>A	ENST00000312026.5	-	3	1719	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	ZNF417_ENST00000595559.1_Missense_Mutation_p.P518S|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.P320S	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CACTTATAAGGCTTTTGTCCA	0.403000													22	66					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620588	137620588	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:137620588G>A	ENST00000371817.3	+	6	1273	c.859G>A	c.(859-861)Ggg>Agg	p.G287R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	287	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGAAGACCTAGGGAAGGAGCC	0.612000													50	80					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60559761	60559761	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:60559761G>A	ENST00000308287.1	+	4	423	c.327G>A	c.(325-327)gcG>gcA	p.A109A		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	109						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GGATCTTGGCGATAACAATGA	0.453000													36	75					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348316	89348316	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:89348316G>A	ENST00000301030.4	-	9	5094	c.4634C>T	c.(4633-4635)cCa>cTa	p.P1545L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1545L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1545	Lys-rich.					nucleus		p.P1545Q(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CATCTTCACTGGGTCGCCCTT	0.587000													18	27					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777793	183777793	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:183777793G>A	ENST00000318351.1	+	8	1137	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.G368K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCAGAAGGGAAATAAGGGC	0.642000													6	15					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648286	57648286	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:57648286C>T	ENST00000269834.1	-	4	581	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACCATGGCTCCTTTCCTTGT	0.527000													29	74					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36707615	36707615	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:36707615C>T	ENST00000264659.7	-	15	2962	c.2738G>A	c.(2737-2739)cGa>cAa	p.R913Q	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R947Q|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	785					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTCCCAGTCTCGCTCTGCAGC	0.622000													11	12					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789926	96789926	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:96789926G>A	ENST00000342380.2	-	9	958	c.959C>T	c.(958-960)tCc>tTc	p.S320F		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	320					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGGCTCCTGGATTCCGCCGA	0.657000													12	19					0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14564008	14564008	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:14564008G>A	ENST00000181796.2	-	4	897	c.664C>T	c.(664-666)Cct>Tct	p.P222S	FAM107B_ENST00000478076.1_Missense_Mutation_p.P47S|FAM107B_ENST00000378470.1_Missense_Mutation_p.P47S|FAM107B_ENST00000479731.1_Missense_Mutation_p.P47S|FAM107B_ENST00000378467.4_Missense_Mutation_p.P47S|FAM107B_ENST00000496330.1_Missense_Mutation_p.P47S|FAM107B_ENST00000378465.3_Missense_Mutation_p.P47S|FAM107B_ENST00000378462.1_Missense_Mutation_p.P47S|FAM107B_ENST00000378458.2_Missense_Mutation_p.P47S|FAM107B_ENST00000468747.1_Missense_Mutation_p.P47S	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	47										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGTTCTGAGGAGCAAGACCC	0.358000													14	29					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803231	113803231	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:113803231G>A	ENST00000375559.3	+	8	905	c.865_splice	c.e8-1	p.G289_splice	F10_ENST00000409306.1_Splice_Site_p.G288_splice|F10_ENST00000375551.3_Splice_Site_p.G286_splice	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	289	Peptidase S1.		G -> R (in FA10D; may affect splicing).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCCCAGGGGACCGGAACA	0.517000													79	107					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36242644	36242644	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:36242644C>T	ENST00000540320.1	+	57	9272	c.8738C>T	c.(8737-8739)tCc>tTc	p.S2913F	NBEA_ENST00000379939.2_Missense_Mutation_p.S2910F|NBEA_ENST00000310336.4_Missense_Mutation_p.S2913F|NBEA_ENST00000379922.3_Missense_Mutation_p.S491F|NBEA_ENST00000537702.1_Missense_Mutation_p.S706F|NBEA_ENST00000400445.3_Missense_Mutation_p.S2913F			Q8NFP9	NBEA_HUMAN	neurobeachin	2913						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGGACTTGTCCCATGACCAG	0.498000													16	27					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7683569	7683569	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7683569C>T	ENST00000572933.1	+	37	7277	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	DNAH2_ENST00000389173.2_Silent_p.I1939I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1939	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCAGAAATCATTCTCTTTG	0.468000													52	141					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043970	74043970	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:74043970G>A	ENST00000409561.1	+	3	2741	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	874										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CATCACAGAAGAGCAGAGGCC	0.493000													12	23					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66410093	66410093	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:66410093C>T	ENST00000341567.4	+	3	545	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_017994.4	NP_060464.1			transmembrane protein 248																		GCCCGAGCTTCCACCCAGTCC	0.557000													20	38					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211645	78211645	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:78211645G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GGGCGCCAGGGATAGGGGCTC	0.522000													19	25					0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243771	137243771	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:137243771C>G	ENST00000331858.4	+	1	370	c.205C>G	c.(205-207)Ccc>Gcc	p.P69A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	69					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CGCCGTGCCCCCCTTCGGTCT	0.716000													3	3					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11448055	11448055	+	Silent	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:11448055G>T	ENST00000222120.3	-	2	281	c.21C>A	c.(19-21)acC>acA	p.T7T	RAB3D_ENST00000589655.1_Silent_p.T7T	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	7					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGCCTGCCTGGGTGTCTCCAG	0.552000													43	80					5.82388e-19	5.91089e-19	1	1	0
TTN	7273	broad.mit.edu	37	2	179614378	179614378	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179614378G>A	ENST00000360870.5	-	46	12971	c.12749C>T	c.(12748-12750)cCt>cTt	p.P4250L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	6912							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)			ATAAGTGACAGGCTCCACTGT	0.348000													19	27					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729796	88729796	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:88729796G>A	ENST00000340700.5	-	2	588	c.137C>T	c.(136-138)tCc>tTc	p.S46F	KCNK10_ENST00000312350.5_Missense_Mutation_p.S51F|KCNK10_ENST00000319231.5_Missense_Mutation_p.S51F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	46					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.S46F(1)|p.S51F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCTCGGGAGGAAATGGACAG	0.642000													38	84					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83781803	83781803	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:83781803C>T	ENST00000566620.1	+	11	1919	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	CDH13_ENST00000428848.3_Silent_p.S504S|RP11-298D21.1_ENST00000569165.1_RNA|RP11-298D21.1_ENST00000563981.1_RNA|CDH13_ENST00000268613.10_Silent_p.S590S|RP11-298D21.1_ENST00000570056.1_RNA	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	543	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACCGTGAGTCCCCATTTGTCG	0.458000													46	89					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000503	16000503	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16000503C>T	ENST00000221700.5	-	7	743	c.647_splice	c.e7-1	p.E216_splice	CYP4F2_ENST00000011989.7_Splice_Site_p.E67_splice|CYP4F2_ENST00000592328.1_Splice_Site_p.E216_splice	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	216					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CACTGGGTTTCCTGCAGGATA	0.468000													40	67					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038009	75038009	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75038009C>T	ENST00000326665.5	-	14	3603	c.3385G>A	c.(3385-3387)Gaa>Aaa	p.E1129K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1129	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACAGGTGCTTCGTTCTCAGCA	0.468000													17	30					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135214	46135214	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:46135214G>A	ENST00000371383.2	-	3	1046	c.786C>T	c.(784-786)acC>acT	p.T262T	ENPP5_ENST00000492313.1_5'UTR|ENPP5_ENST00000230565.3_Silent_p.T262T			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	262						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GATCAATCAGGGTATAGTGGT	0.443000													72	120					0	0	1	0	0
MIR331	442903	broad.mit.edu	37	12	95702281	95702281	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:95702281C>T	ENST00000362302.1	+	0	86					NR_029895.1																						CTAGAACCAACCTAAGCTCGC	0.473000													9	13					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97915703	97915703	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:97915703G>A	ENST00000370192.3	-	14	1917	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	606					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATTCAGAAAGGAGCTTTGTCC	0.448000													19	39					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146328	156146328	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:156146328C>T	ENST00000368285.3	+	15	2093	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	SEMA4A_ENST00000368282.1_Missense_Mutation_p.S609F|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S477F|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S477F|SEMA4A_ENST00000355014.2_Missense_Mutation_p.S609F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	609	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TACAATGGCTCCCTCTTGCTG	0.562000													16	40					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6679422	6679422	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:6679422G>A	ENST00000518724.1	-	0	926							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ATTTCTAGAAGGGCTGTCCCA	0.517000													7	2					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051542	17051542	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:17051542C>T	ENST00000418129.2	+	2	791	c.326C>T	c.(325-327)tCc>tTc	p.S109F	PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.S109F|PLCL2_ENST00000432376.1_Missense_Mutation_p.S109F	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	235					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTTGCCAACTCCGCAGATGTT	0.408000													42	69					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55014950	55014950	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:55014950G>A	ENST00000301202.2	+	2	191	c.70_splice	c.e2+1	p.E23_splice	LAIR2_ENST00000351841.2_Splice_Site_p.E23_splice	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	23						extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACACGCAGGAGGGTAAGTCAT	0.572000													25	60					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21139052	21139052	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:21139052C>T	ENST00000261383.3	-	8	1163	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Silent_p.V388V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	388	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTTCTGGATCACATCCCAAA	0.488000													50	75					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672849	10672849	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:10672849G>A	ENST00000302079.6	-	50	7654	c.7655C>T	c.(7654-7656)aCc>aTc	p.T2552I	PIEZO2_ENST00000285141.4_Missense_Mutation_p.T407I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.T572I|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2640I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2615I			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2615						integral to membrane	ion channel activity										CAAAATGATGGTAATATCCAT	0.368000													18	37					0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336434	3336434	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:3336434G>A	ENST00000248384.1	-	1	701	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	234					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GGACCTTGAGGATGGAGGAGA	0.478000													10	25					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174870065	174870065	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:174870065C>T	ENST00000393752.2	-	2	1030	c.38G>A	c.(37-39)gGg>gAg	p.G13E		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	13					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CACCACCAGCCCAGTCCCGTC	0.572000													36	84					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64749606	64749606	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:64749606G>A	ENST00000557772.1	-	1	97	c.98C>T	c.(97-99)cCt>cTt	p.P33L	ESR2_ENST00000555278.1_Missense_Mutation_p.P33L|ESR2_ENST00000542956.1_Missense_Mutation_p.P33L|ESR2_ENST00000341099.4_Missense_Mutation_p.P33L|ESR2_ENST00000358599.5_Missense_Mutation_p.P33L|ESR2_ENST00000353772.3_Missense_Mutation_p.P33L|ESR2_ENST00000553796.1_Missense_Mutation_p.P33L|ESR2_ENST00000267525.6_Missense_Mutation_p.P33L|ESR2_ENST00000357782.2_Missense_Mutation_p.P33L|ESR2_ENST00000554572.1_Missense_Mutation_p.P33L	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	33	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATAGGAGGAAGGTATGTATAT	0.443000													34	57					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87370852	87370852	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:87370852C>T	ENST00000338056.3	+	7	1048	c.637C>T	c.(637-639)Cct>Tct	p.P213S	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.P196S|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.P196S	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	213										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGGCAGTTTTCCTGCTGTAAT	0.274000													13	28					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138647015	138647015	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:138647015G>A	ENST00000298480.5	+	6	614	c.540_splice	c.e6+1	p.Q180_splice	KCNT1_ENST00000263604.3_Splice_Site_p.Q161_splice|KCNT1_ENST00000491806.2_Splice_Site_p.Q147_splice|KCNT1_ENST00000490355.2_Splice_Site_p.Q161_splice|KCNT1_ENST00000488444.2_Splice_Site_p.Q161_splice|KCNT1_ENST00000487664.1_Splice_Site_p.Q132_splice|KCNT1_ENST00000371757.2_Splice_Site_p.Q180_splice|KCNT1_ENST00000486577.2_Splice_Site_p.Q141_splice			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	180						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)		GGGCGATCCAGGTGAGTGCCC	0.597000													16	23					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002249	119002249	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:119002249C>T	ENST00000350777.2	+	4	479	c.416C>T	c.(415-417)tCc>tTc	p.S139F	HINFP_ENST00000527410.1_Missense_Mutation_p.S139F|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	139					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCACAGAATTCCTTCGACAAT	0.537000													29	67					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961872	1961872	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:1961872C>T	ENST00000454677.2	-	2	864	c.799G>A	c.(799-801)Gag>Aag	p.E267K	HS3ST6_ENST00000293937.3_Missense_Mutation_p.E250K|HS3ST6_ENST00000443547.1_Missense_Mutation_p.E219K			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	219										endometrium(2)|lung(2)	4						ACCAGACGCTCCCCGCTGACG	0.667000													27	35					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32039945	32039945	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:32039945G>A	ENST00000375244.3	-	13	5013	c.4812C>T	c.(4810-4812)ttC>ttT	p.F1604F	TNXB_ENST00000375247.2_Silent_p.F1604F			P22105	TENX_HUMAN	tenascin XB	1686	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAAAGGAGTCGAATTCACCCT	0.612000													31	19					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883187	48883187	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:48883187C>T	ENST00000262105.2	+	11	1760	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Silent_p.S517S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	517	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCAGCAAGTCCCAGCTGCTGC	0.557000													15	75					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378384	62378384	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:62378384G>A	ENST00000245663.4	-	5	1819	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P557S|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P557S	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCATCCTCAGGGGCCAGGCCC	0.697000													13	25					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30532830	30532830	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:30532830G>A	ENST00000356798.6	+	31	3537	c.3357G>A	c.(3355-3357)cgG>cgA	p.R1119R	ITGAL_ENST00000433423.2_Silent_p.R353R|ITGAL_ENST00000358164.5_Silent_p.R1035R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1119					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCTTCAAACGGAACCTGAAGG	0.478000													9	42					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67259723	67259723	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:67259723C>T	ENST00000356404.3	-	24	3741	c.3516G>A	c.(3514-3516)gcG>gcA	p.A1172A	PITPNM1_ENST00000436757.2_Silent_p.A1171A|PITPNM1_ENST00000534749.1_Silent_p.A1172A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1172					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGTGCGAGCCCGCTTCCAGCT	0.672000													8	10					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94411922	94411922	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:94411922C>T	ENST00000282020.4	+	12	2249	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	GRID2_ENST00000510992.1_Missense_Mutation_p.S569F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	664					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGAAAGTTCCATCCAGTAA	0.393000													33	37					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128162	147128162	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:147128162C>T	ENST00000282928.4	+	1	992	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	88					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACGTCGGCTCCTATTCCAGC	0.692000													5	8					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682001	100682001	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100682001G>T	ENST00000306151.4	+	3	7368	c.7304G>T	c.(7303-7305)aGt>aTt	p.S2435I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2435	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)					ACTGAAGCCAGTTCATCTCCT	0.547000													212	416					2.69335e-108	2.74949e-108	1	1	0
C16orf80	29105	broad.mit.edu	37	16	58149201	58149201	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:58149201G>A	ENST00000262498.3	-	4	771	c.437C>T	c.(436-438)aCc>aTc	p.T146I	C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN	chromosome 16 open reading frame 80	146					multicellular organismal development					kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GATGTAATTGGTGCCGTATGC	0.552000													58	103					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932104	99932104	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:99932104C>T	ENST00000524871.1	+	10	1431	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	CNTN5_ENST00000528682.1_Missense_Mutation_p.R381C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R381C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R381C|CNTN5_ENST00000418526.2_Missense_Mutation_p.R307C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	381	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATTCCTTTCGTGGACAATT	0.393000													12	23					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83438571	83438571	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:83438571C>T	ENST00000334574.8	-	8	1514	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	FSD2_ENST00000541889.1_Intron			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	445	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ACCCAAAATTCATACTGGGTA	0.458000													25	54					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951641	44951641	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:44951641G>A	ENST00000296125.4	+	11	1455	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	463					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCTGAGAGGGAGCACAGACG	0.478000													13	29					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469803	72469803	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:72469803C>T	ENST00000360141.3	+	2	457	c.169C>T	c.(169-171)Cta>Tta	p.L57L	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	57	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ACAGATTTTCCTATGTGACAA	0.552000													27	34					0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29052083	29052083	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:29052083G>A	ENST00000334056.5	+	6	639	c.450G>A	c.(448-450)ggG>ggA	p.G150G	SPDYA_ENST00000379579.4_Silent_p.G150G|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	150	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGGCTTTAGGGAAAAACTGGA	0.383000													13	25					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135396605	135396605	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:135396605C>T	ENST00000442011.2	+	14	2047	c.1886C>T	c.(1885-1887)aCc>aTc	p.T629I	TGFBI_ENST00000305126.8_Missense_Mutation_p.T629I|TGFBI_ENST00000508076.1_Missense_Mutation_p.T11I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	629	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATGTCATCACCAATGTTCTG	0.483000													12	25					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985978	61985978	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:61985978G>A	ENST00000409186.1	-	5	4359	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	PCDH20_ENST00000409204.4_Silent_p.L752L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	725	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGTACTAACAGATAAGACATA	0.443000													32	58					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37498194	37498194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:37498194C>T	ENST00000377792.3	+	8	1333	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	POLR1E_ENST00000442009.2_Nonsense_Mutation_p.R217*|POLR1E_ENST00000377798.4_Nonsense_Mutation_p.R287*			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	349					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CATCAAATTTCGAGCTCATAG	0.398000													26	34					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172766766	172766766	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:172766766G>A	ENST00000351008.3	-	3	914	c.731C>T	c.(730-732)cCa>cTa	p.P244L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	244					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GGCAAGATCTGGTTTCCTCAT	0.428000													26	65					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50100062	50100062	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:50100062C>T	ENST00000418929.2	+	4	2482	c.2470C>T	c.(2470-2472)Ctt>Ttt	p.L824F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	505							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGTCCACCTCCTTGAGCCAGC	0.731000													11	13					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127686	117127686	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:117127686C>T	ENST00000310357.3	-	3	1203	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.R394R	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	394					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGACGAAGTTCCTTTCTATAG	0.443000													17	23					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143603417	143603417	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:143603417C>T	ENST00000517894.1	+	21	4010	c.3116C>T	c.(3115-3117)gCg>gTg	p.A1039V	BAI1_ENST00000323289.5_Missense_Mutation_p.A1039V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1039					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCTACATGGCGGTGACGGGC	0.662000													7	26					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901754	51901754	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:51901754G>A	ENST00000268919.4	+	1	1516	c.1360G>A	c.(1360-1362)Gga>Aga	p.G454R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	454	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAATGAAAGAGGAGCAGATAC	0.488000													18	24					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8675373	8675373	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:8675373C>T	ENST00000317371.4	-	11	1477	c.252G>A	c.(250-252)ctG>ctA	p.L84L	SSUH2_ENST00000415132.1_Silent_p.L84L|SSUH2_ENST00000341795.3_Silent_p.L84L|SSUH2_ENST00000544814.1_Silent_p.L106L					ssu-2 homolog (C. elegans)																		TCTGCCGCTTCAGCTCCTGGA	0.672000													7	14					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103777	125103777	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:125103777G>A	ENST00000522917.1	+	34	4711	c.4505G>A	c.(4504-4506)gGa>gAa	p.G1502E	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G1502E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1502						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATACAGATAGGAAACCAAGTC	0.453000													30	90					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52546620	52546620	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:52546620G>A	ENST00000262094.5	+	3	695	c.174G>A	c.(172-174)ccG>ccA	p.P58P	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	58					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CACAAGGACCGAATGGATCTT	0.403000													98	100					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25008975	25008975	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:25008975G>A	ENST00000381989.3	-	31	4409	c.4304C>T	c.(4303-4305)cCc>cTc	p.P1435L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1435					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATGAAGCTGGGGAGAATCCAG	0.512000													6	16					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784366	151784366	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:151784366G>A	ENST00000255262.3	-	1	474	c.309C>T	c.(307-309)gtC>gtT	p.V103V	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	103					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACATCTCATAGACCTCCAGGG	0.582000													35	63					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49032865	49032865	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:49032865G>A	ENST00000226432.4	+	11	1579	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	CWH43_ENST00000513409.1_Missense_Mutation_p.E439K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	466					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AACAATTTTGGAGAGTGATGC	0.388000													25	40					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767594	150767594	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150767594C>T	ENST00000485713.1	+	11	2540	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	SLC4A2_ENST00000310317.5_Silent_p.S418S|SLC4A2_ENST00000461735.1_Silent_p.S486S|SLC4A2_ENST00000413384.2_Silent_p.S500S|SLC4A2_ENST00000392826.2_Silent_p.S491S	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	500					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCAAGTCCAAGCACGAGC	0.637000													18	18					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109402	21109402	+	Missense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:21109402C>A	ENST00000320704.3	-	1	448	c.449G>T	c.(448-450)tGc>tTc	p.C150F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCCCACCCAGCAGGCCAAGGC	0.597000													11	22					6.72482e-11	6.79256e-11	1	1	0
OR2A2	442361	broad.mit.edu	37	7	143806751	143806751	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:143806751C>T	ENST00000408979.2	+	1	145	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	26					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)					GGCGATTCTCCTCTGTGGACT	0.512000													61	88					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964887	70964887	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:70964887C>T	ENST00000357250.6	-	23	1735	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	COL9A1_ENST00000320755.7_Missense_Mutation_p.G283E|COL9A1_ENST00000370499.4_Missense_Mutation_p.G283E|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	526	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCAGGAATTCCTCTAGCACC	0.438000													54	54					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196825573G>A	ENST00000312428.6	-	18	2402	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	768	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						TCATAAAGACGAAGATAAGGG	0.403000													30	68					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449554	35449554	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35449554G>A	ENST00000404801.1	-	4	1591	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	ZNF792_ENST00000605484.1_Missense_Mutation_p.S335F	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCAGTTGAAAGATTTCCCACA	0.463000													8	26					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107580566	107580566	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:107580566C>T	ENST00000393561.1	-	23	3885	c.3701G>A	c.(3700-3702)aGt>aAt	p.S1234N	LAMB1_ENST00000222399.6_Missense_Mutation_p.S1210N			P07942	LAMB1_HUMAN	laminin, beta 1	1210	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATCACACCACTGATCTTCAA	0.562000													39	62					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702805	181702805	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:181702805G>A	ENST00000526775.1	+	20	3289	c.3124G>A	c.(3124-3126)Gac>Aac	p.D1042N	CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1061N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D993N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1061N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D668N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1012N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1042N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1061					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCCAACACGGACAAGGCCAC	0.642000													16	13					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945846	66945846	+	Silent	SNP	G	G	A	rs142024712	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:66945846G>A	ENST00000299752.4	-	13	1939	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	CDH16_ENST00000565796.1_Silent_p.F582F|CDH16_ENST00000568632.1_Silent_p.F485F|CDH16_ENST00000394055.3_Silent_p.F582F|CDH16_ENST00000570262.1_Silent_p.F502F	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	582	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGTCAGCAGGAAAGAGCCGG	0.622000													24	40					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154801148	154801148	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:154801148G>A	ENST00000392825.3	+	3	705	c.138G>A	c.(136-138)ttG>ttA	p.L46L	GALNT13_ENST00000409237.1_Silent_p.L46L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	46						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCCTGCATTGAGGGGTAAGT	0.403000													41	74					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620310	7620310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:7620310C>T	ENST00000486284.1	+	8	1991	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	GRM7_ENST00000402647.2_Nonsense_Mutation_p.R573*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.R573*|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Nonsense_Mutation_p.R573*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.R573*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	573					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAATGAAAATCGAACCGGATG	0.522000													35	83					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2514543	2514543	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:2514543C>T	ENST00000483320.1	+	9	1288	c.675C>T	c.(673-675)ctC>ctT	p.L225L	C16orf59_ENST00000569496.1_3'UTR|C16orf59_ENST00000361837.4_Silent_p.L392L|C16orf59_ENST00000563531.1_3'UTR			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	392										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGAACTCCTCCCCCTGGTAA	0.706000													18	16					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832440	44832440	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:44832440C>T	ENST00000354340.4	-	4	1921	c.1870G>A	c.(1870-1872)Gtc>Atc	p.V624I	ZNF112_ENST00000536500.1_Missense_Mutation_p.V647I|ZNF112_ENST00000337401.4_Missense_Mutation_p.V630I	NM_013380.3	NP_037512.3			zinc finger protein 112																		CCAGTGTGGACTCTCTGATGG	0.463000													64	108					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729308	22729308	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:22729308G>A	ENST00000503442.1	+	0	149				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTTTCAAATGAAGATGGAGA	0.408000													48	68					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942924	11942924	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:11942924C>T	ENST00000304060.5	+	4	1097	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAAAAATCTCTATGAATGTA	0.388000													33	60					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434348	35434348	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35434348G>A	ENST00000439785.1	+	5	925	c.481G>A	c.(481-483)Gga>Aga	p.G161R	ZNF30_ENST00000303586.7_Missense_Mutation_p.G161R|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.G160R|ZNF30_ENST00000426813.2_Missense_Mutation_p.G79R	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTTTAGTAATGGACATCAACT	0.378000													14	25					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21106004	21106004	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:21106004G>A	ENST00000255882.6	-	26	3113	c.3027C>T	c.(3025-3027)acC>acT	p.T1009T	PI4KA_ENST00000572273.1_Silent_p.T951T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	951					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGTCCAGCATGGTCTTCAGCA	0.602000													18	75					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34512051	34512051	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:34512051G>A	ENST00000374037.3	-	2	596	c.182C>T	c.(181-183)tCc>tTc	p.S61F	SPDEF_ENST00000544425.1_Missense_Mutation_p.S61F	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	61					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GTCAAAGTAGGAGAGGTAGAA	0.677000													46	35					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29225431	29225431	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:29225431G>A	ENST00000379558.4	+	5	808	c.457G>A	c.(457-459)Gga>Aga	p.G153R	FAM179A_ENST00000403861.2_Missense_Mutation_p.G153R	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	153							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGCCCCCAAGGAGTTCCCCT	0.617000													11	18					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124391388	124391388	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:124391388C>T	ENST00000338354.3	+	47	6083	c.5977C>T	c.(5977-5979)Cct>Tct	p.P1993S	DMBT1_ENST00000359586.6_Missense_Mutation_p.P713S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P1983S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P1983S|DMBT1_ENST00000368909.3_Missense_Mutation_p.P1993S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1365S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1365S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1993					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTATCGACACCTGGTAAGTC	0.493000													12	21					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189191	124189191	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124189191C>T	ENST00000357438.2	-	1	993	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TCATCTTCTTCAGTGCATTTT	0.393000													23	45					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202589065	202589065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:202589065C>T	ENST00000264276.6	-	21	3837	c.3465G>A	c.(3463-3465)tgG>tgA	p.W1155*	ALS2_ENST00000457679.2_Nonsense_Mutation_p.W467*	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1155					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TATCCATTACCCACTGGCCAA	0.408000													31	53					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7417270	7417270	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7417270C>T	ENST00000322644.6	+	29	6086	c.5687C>T	c.(5686-5688)tCc>tTc	p.S1896F		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1896	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				cctacttattccccaacctct	0.557000													31	41					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398201	89398201	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:89398201C>T	ENST00000439576.2	+	12	2759	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	ACAN_ENST00000561243.1_Silent_p.P795P|ACAN_ENST00000352105.7_Silent_p.P795P|ACAN_ENST00000559004.1_Silent_p.P795P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	795					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCCATTCCCCTCAGAGGAGC	0.602000													5	14					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598119	28598119	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28598119G>A	ENST00000434452.1	-	9	1335	c.1181C>T	c.(1180-1182)aCc>aTc	p.T394I	DSC3_ENST00000360428.4_Missense_Mutation_p.T394I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	394	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTTTAAAATGGTAAAATTGAC	0.313000													26	75					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76501369	76501369	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:76501369C>T	ENST00000307431.8	+	11	1986	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S538F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S462F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S486F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	535	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S534Y(1)|p.S510Y(1)|p.S462Y(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCAGGGGTCCCTTGGGAAC	0.453000													9	9					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74276032	74276032	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:74276032G>A	ENST00000295897.4	+	6	708	c.619G>A	c.(619-621)Gat>Aat	p.D207N	ALB_ENST00000503124.1_Missense_Mutation_p.D57N|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.D207N|ALB_ENST00000401494.3_Missense_Mutation_p.D92N|ALB_ENST00000415165.2_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	207	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TTTGTAGCTCGATGAACTTCG	0.383000													15	32					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835116	172835116	+	Missense_Mutation	SNP	G	G	A	rs144595913		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:172835116G>A	ENST00000351008.3	-	2	589	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	136					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTCATAGCGAACACCCATT	0.418000													25	68					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329637	75329637	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:75329637C>T	ENST00000556489.2	-	1	900	c.901G>A	c.(901-903)Gga>Aga	p.G301R	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000445876.1_Missense_Mutation_p.G301R	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	301					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GATAAATTTCCTACTGGGACC	0.552000													22	73					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3447795	3447795	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:3447795C>T	ENST00000382774.3	+	10	1244	c.1129C>T	c.(1129-1131)Ccg>Tcg	p.P377S	HGFAC_ENST00000511533.1_Missense_Mutation_p.P384S	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	377					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCAACTGTCACCGGATCTCCT	0.667000													8	9					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589695	140589695	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140589695G>A	ENST00000239450.2	+	1	1405	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E69K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		406	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGGAAACAGAGAGACCGCT	0.498000													14	44					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40627436	40627436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:40627436C>A	ENST00000397536.2	-	7	933	c.898G>T	c.(898-900)Gga>Tga	p.G300*	C15orf52_ENST00000559313.1_Nonsense_Mutation_p.G510*			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	510										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TGGCTGCCTCCTCTCGTGGGC	0.682000													4	106					4.096e-09	4.13329e-09	1	1	0
SLC22A10	387775	broad.mit.edu	37	11	63069934	63069934	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:63069934C>T	ENST00000332793.6	+	7	1206	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	402						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACACTAAATCATATGGGCCG	0.463000													16	46					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29754757	29754757	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:29754757G>A	ENST00000357586.2	-	5	669	c.483C>T	c.(481-483)ttC>ttT	p.F161F	AP1B1_ENST00000405198.1_Silent_p.F161F|AP1B1_ENST00000356015.2_Silent_p.F161F|AP1B1_ENST00000415447.1_Silent_p.F161F|AP1B1_ENST00000432560.2_Silent_p.F161F|AP1B1_ENST00000317368.7_Silent_p.F161F|AP1B1_ENST00000402502.1_Silent_p.F161F	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	161					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGTGTCCAGGAAGCCCTGGT	0.592000													15	84					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5332977	5332977	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:5332977C>T	ENST00000282908.5	+	4	713	c.291C>T	c.(289-291)ttC>ttT	p.F97F	STK32B_ENST00000512636.1_Silent_p.F50F|STK32B_ENST00000510398.1_Silent_p.F50F	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	97	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AGGACATGTTCATGGTGGTGG	0.552000													33	43					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692503	20692503	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20692503C>T	ENST00000315519.2	+	1	713	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S212Y(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCTGCTCCTTCCACTGAGCTT	0.498000													9	22					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60786732	60786732	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:60786732C>T	ENST00000313421.7	+	13	2135	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	CD6_ENST00000452451.2_Missense_Mutation_p.P574L|CD6_ENST00000352009.5_Missense_Mutation_p.P583L|CD6_ENST00000344028.5_Missense_Mutation_p.P618L|CD6_ENST00000346437.4_Missense_Mutation_p.P577L	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	650					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ACAGGGTCCCCCAGCCCTCAG	0.637000													7	17					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761118	121761118	+	Missense_Mutation	SNP	G	G	A	rs142918972	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:121761118G>A	ENST00000504884.2	+	3	202	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	SNCAIP_ENST00000261367.7_Silent_p.A405A|SNCAIP_ENST00000379533.2_Silent_p.A405A|SNCAIP_ENST00000503116.2_Silent_p.A405A|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261368.8_Silent_p.A358A|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATATTGCGGCGTCACAGGGAC	0.458000													48	73					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24988464	24988464	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:24988464G>A	ENST00000537502.1	-	12	3286	c.1755C>T	c.(1753-1755)ccC>ccT	p.P585P	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Silent_p.P668P|ACSS1_ENST00000542618.1_Silent_p.P547P|ACSS1_ENST00000484396.1_5'UTR			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	668					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGATGATGCTGGGGTCCTCCA	0.582000													43	74					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288684	107288684	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:107288684C>T	ENST00000277216.3	-	1	806	c.807G>A	c.(805-807)ggG>ggA	p.G269G		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGTTGTCTTTCCCAAGGAGGT	0.423000													17	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179538395	179538395	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179538395G>A	ENST00000589042.1	-	152	34975	c.34751C>T	c.(34750-34752)cCt>cTt	p.P11584L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11210L|TTN_ENST00000342992.6_Missense_Mutation_p.P10283L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11383	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGGAACAGGAGTAGGTGC	0.353000													15	36					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33689595	33689595	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:33689595G>A	ENST00000269187.5	-	10	2442	c.2229C>T	c.(2227-2229)tcC>tcT	p.S743S	SLC39A6_ENST00000590986.1_Silent_p.S743S	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	743						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GTTCAAATATGGAAATAAGTA	0.358000													41	59					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2976739	2976739	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:2976739C>T	ENST00000396946.4	-	9	1676	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	425					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCAGGCCTCCCGCCGCACC	0.607000			Mis		DLBCL								20	24					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16456476	16456476	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:16456476A>G	ENST00000395824.1	-	6	1597	c.980T>C	c.(979-981)cTa>cCa	p.L327P	ZNF287_ENST00000395825.3_Missense_Mutation_p.L327P			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTGTACAATTAGGTTTGAATG	0.303000													17	20					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33954146	33954146	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33954146C>T	ENST00000361328.3	+	3	652	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Missense_Mutation_p.P167S	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	167					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)				GCCAGTGGATCCCTGGCCTGA	0.522000													10	31					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157504560	157504560	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:157504560G>A	ENST00000361835.3	-	8	1682	c.1525C>T	c.(1525-1527)Cat>Tat	p.H509Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.H509Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.H509Y|FCRL5_ENST00000368191.3_Missense_Mutation_p.H424Y|FCRL5_ENST00000368189.3_Missense_Mutation_p.H509Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	509	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATGTCCTCATGATAAAACTGG	0.512000													11	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582923	179582923	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179582923C>T	ENST00000589042.1	-	86	25034	c.24810G>A	c.(24808-24810)ctG>ctA	p.L8270L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.L7953L|TTN_ENST00000342992.6_Silent_p.L7026L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7953	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)			CCACATGTTCCAGAGGTTCAA	0.398000													18	26					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171687691	171687691	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:171687691G>C	ENST00000358196.3	+	5	1086	c.536G>C	c.(535-537)gGg>gCg	p.G179A	GAD1_ENST00000344257.5_Missense_Mutation_p.G179A|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.G179A	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	179					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTGAAGTATGGGGTTCGCACA	0.537000													26	93					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111030	7111030	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:7111030G>A	ENST00000306904.5	+	1	866	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	227	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGACTACCGCGAACCCCGGGG	0.706000													4	9					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133708	47133708	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:47133708C>T	ENST00000422732.2	-	0	435					NR_033957.1																						AGAACCACTTCGACCTCTTTG	0.468000													9	67					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73094203	73094203	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:73094203C>T	ENST00000450736.2	+	3	685	c.270C>T	c.(268-270)gcC>gcT	p.A90A	SLC16A5_ENST00000329783.4_Silent_p.A90A|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Silent_p.A90A|SLC16A5_ENST00000538213.2_Silent_p.A130A			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	90					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCGTGCTGGCCAGCCTGGGCA	0.597000													64	59					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858458	43858458	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:43858458C>T	ENST00000389420.3	-	10	1444	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R482Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	482	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding	p.R482Q(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCATCATATCGTGATCCAGG	0.383000													28	45					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612104	53612104	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:53612104G>A	ENST00000455735.2	-	7	1658	c.1338C>T	c.(1336-1338)agC>agT	p.S446S	ZNF415_ENST00000448501.1_Silent_p.S446S|ZNF415_ENST00000440291.1_Silent_p.S385S|ZNF415_ENST00000500065.4_Silent_p.S398S|ZNF415_ENST00000421033.1_Silent_p.S410S|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.S168S|ZNF415_ENST00000243643.4_Silent_p.S398S			Q09FC8	ZN415_HUMAN	zinc finger protein 415	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GCCTTGCAAGGCTTGAAGTCT	0.418000													21	41					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890217	228890217	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:228890217G>A	ENST00000392056.3	-	5	380	c.334C>T	c.(334-336)Cca>Tca	p.P112S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P112S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	112						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATAAGTTTTGGAAGATCTGGT	0.358000													23	42					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149206376	149206376	+	Silent	SNP	C	C	T	rs149468899		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:149206376C>T	ENST00000309241.5	+	3	425	c.393C>T	c.(391-393)ccC>ccT	p.P131P	PPARGC1B_ENST00000394320.3_Silent_p.P131P|PPARGC1B_ENST00000360453.4_Silent_p.P131P|PPARGC1B_ENST00000403750.1_Silent_p.P106P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	131					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGCCTGCCCCCTCATCTGCAC	0.617000													28	50					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47252065	47252065	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:47252065C>T	ENST00000296861.2	-	3	1245	c.852G>A	c.(850-852)ggG>ggA	p.G284G		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	284					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CGTCTTCCTTCCCCCTTGCTG	0.537000													151	112					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155206188	155206188	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:155206188G>A	ENST00000428024.2	-	7	1313	c.811C>T	c.(811-813)Cca>Tca	p.P271S	GBA_ENST00000368373.3_Missense_Mutation_p.P358S|GBA_ENST00000536770.1_Missense_Mutation_p.P245S|GBA_ENST00000427500.2_Missense_Mutation_p.P309S|GBA_ENST00000327247.5_Missense_Mutation_p.P358S	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	358					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GCTTTGGCTGGAGCCAGAAAG	0.537000									Gaucher disease type I				24	31					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962758	94962758	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:94962758C>T	ENST00000341228.2	-	4	1652	c.857G>A	c.(856-858)gGa>gAa	p.G286E	SERPINA12_ENST00000556881.1_Missense_Mutation_p.G286E	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	286					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CACCTGCAATCCCTTCTCCAA	0.483000													42	82					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34611578	34611578	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:34611578C>T	ENST00000373973.3	+	11	1497	c.1324C>T	c.(1324-1326)Ctg>Ttg	p.L442L	CNBD2_ENST00000349339.1_Silent_p.L438L|CNBD2_ENST00000538900.1_Intron					cyclic nucleotide binding domain containing 2																		ACCCTTGATCCTGATGAGCCT	0.453000													41	48					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325980	31325980	+	Missense_Mutation	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:31325980A>C	ENST00000269197.5	+	12	6168	c.6168A>C	c.(6166-6168)caA>caC	p.Q2056H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2056	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCAAAAACAACCTCCAGTTA	0.532000													20	20					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33935215	33935215	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:33935215T>A	ENST00000262325.7	+	5	887	c.334T>A	c.(334-336)Tgc>Agc	p.C112S	AP2B1_ENST00000589344.1_Missense_Mutation_p.C112S|AP2B1_ENST00000537622.2_Missense_Mutation_p.C112S|AP2B1_ENST00000312678.8_Missense_Mutation_p.C112S|AP2B1_ENST00000592545.1_Intron|AP2B1_ENST00000538556.1_Missense_Mutation_p.C55S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	112					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACCATGGGGTGCATCCGGGT	0.478000													13	37					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807749	15807749	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:15807749G>A	ENST00000550308.1	+	13	1809	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CYP4F12_ENST00000324632.9_Missense_Mutation_p.E477K	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CGCCATGGCGGAGATGAAAGT	0.622000													5	17					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104458468	104458468	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:104458468G>A	ENST00000229330.4	+	1	234	c.130G>A	c.(130-132)Ggc>Agc	p.G44S		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	44					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGAAATGAGGGCATCGCGGA	0.706000													8	25					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509470	63509470	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:63509470C>T	ENST00000389100.4	+	4	389	c.317C>T	c.(316-318)tCc>tTc	p.S106F	RNF180_ENST00000296615.6_Missense_Mutation_p.S106F|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	106						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCAAAATGTTCCTGTGGCCAG	0.478000													74	128					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954470	119954470	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:119954470G>A	ENST00000327554.2	+	8	1391	c.926G>A	c.(925-927)aGg>aAg	p.R309K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	309										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GATGCCCGGAGGACAGTCACA	0.473000													11	35					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206977	142206977	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142206977G>A	ENST00000426318.2	-	0	34																											TCCAGGGCAGGATCTTGTGTC	0.552000													13	39					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69380947	69380947	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:69380947C>T	ENST00000337103.4	+	3	1887	c.295C>T	c.(295-297)Cca>Tca	p.P99S	C8orf34_ENST00000348340.2_Missense_Mutation_p.P124S|C8orf34_ENST00000518698.1_Missense_Mutation_p.P210S|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Missense_Mutation_p.P124S			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	124					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGTAGAGCATCCAAAGTGGAA	0.398000													67	21					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043428	56043428	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:56043428C>T	ENST00000313033.2	+	1	400	c.314C>T	c.(313-315)tCa>tTa	p.S105L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAATCTATTTCATTTCTTGGA	0.368000													33	78					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618054	618054	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:618054C>T	ENST00000358353.3	-	15	2340	c.2018G>A	c.(2017-2019)gGg>gAg	p.G673E	CDHR5_ENST00000397542.2_Missense_Mutation_p.G673E|CDHR5_ENST00000349570.7_Missense_Mutation_p.G479E			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	673					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACCCAGCACCCCGCCCAGGGC	0.657000													4	21					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38537972	38537972	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38537972C>T	ENST00000287675.5	+	1	210	c.114C>T	c.(112-114)ttC>ttT	p.F38F	EXOG_ENST00000422077.2_Silent_p.F38F|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	38						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						CCCTGCAGTTCTTCCGGAGTC	0.672000											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	28					0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107381055	107381055	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:107381055C>T	ENST00000372232.3	+	8	728	c.569C>T	c.(568-570)cCc>cTc	p.P190L	ATG4A_ENST00000372254.3_Missense_Mutation_p.P166L|ATG4A_ENST00000545696.1_Missense_Mutation_p.P113L|ATG4A_ENST00000345734.3_Missense_Mutation_p.P190L	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	190					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CGTGTCCTTCCCTTGAGTGCT	0.468000													49	27					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204313555	204313555	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:204313555G>A	ENST00000319170.5	-	11	1717	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	RAPH1_ENST00000374489.2_Missense_Mutation_p.P500L|RAPH1_ENST00000453034.1_Missense_Mutation_p.P525L|RAPH1_ENST00000423104.1_Missense_Mutation_p.P500L|RAPH1_ENST00000374493.3_Missense_Mutation_p.P525L|RAPH1_ENST00000419464.1_Missense_Mutation_p.P473L|RAPH1_ENST00000418114.1_Missense_Mutation_p.P473L|RAPH1_ENST00000308091.4_Missense_Mutation_p.P525L|RAPH1_ENST00000439222.1_Missense_Mutation_p.P498L|RAPH1_ENST00000374488.2_Missense_Mutation_p.P498L|RAPH1_ENST00000457812.1_Missense_Mutation_p.P473L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	473	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGATTTGTGGATGCTGCAA	0.378000													9	43					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96180938	96180938	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:96180938C>T	ENST00000343702.4	-	2	812	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	NTN4_ENST00000538383.1_Missense_Mutation_p.E85K|NTN4_ENST00000553059.1_Missense_Mutation_p.E122K|NTN4_ENST00000344911.4_Missense_Mutation_p.E85K	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	122	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATTCAGCTTCCAGGTCTAAC	0.537000													18	28					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79679607	79679607	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:79679607C>T	ENST00000261205.4	+	5	864	c.207C>T	c.(205-207)gtC>gtT	p.V69V	SYT1_ENST00000552744.1_Silent_p.V69V|SYT1_ENST00000393240.3_Silent_p.V69V|SYT1_ENST00000457153.2_Silent_p.V69V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	69					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TAGTCGCAGTCCTTTTAGTCC	0.398000													23	44					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45026797	45026797	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:45026797G>A	ENST00000454753.1	-	0	895							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGACAGAATGGAGTCAAGGAG	0.537000													10	21					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881697	38881697	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:38881697G>A	ENST00000274276.3	+	4	651	c.249G>A	c.(247-249)ggG>ggA	p.G83G	OSMR_ENST00000502536.1_Silent_p.G83G	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	83					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCTTTTAGGGGAATTACAGCA	0.423000													26	36					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126726730	126726730	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:126726730C>T	ENST00000251772.4	+	8	2086	c.2017C>T	c.(2017-2019)Ctg>Ttg	p.L673L	PLXNA1_ENST00000393409.2_Silent_p.L696L			Q9UIW2	PLXA1_HUMAN	plexin A1	696					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGCGCCTTCCTGGAGGGCCG	0.602000													7	36					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110183	106110183	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:106110183C>T	ENST00000390545.2	-	0	434																											CTTCGTGGCTCACGTCCACCA	0.602000													46	90					0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33442887	33442887	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:33442887G>A	ENST00000297991.4	-	4	535	c.455C>T	c.(454-456)tCt>tTt	p.S152F	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	152					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CAAGTGTCCAGAGGGGTAGGT	0.552000													63	105					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119249	9119249	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:9119249C>T	ENST00000382496.5	-	15	2451	c.1786G>A	c.(1786-1788)Gga>Aga	p.G596R		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	596	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTCCAGCCTCCGTTCCTGAGG	0.627000													5	10					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64921587	64921587	+	Silent	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:64921587A>T	ENST00000555709.1	+	26	3099	c.2712A>T	c.(2710-2712)gtA>gtT	p.V904V	MTHFD1_ENST00000556284.1_3'UTR|MTHFD1_ENST00000545908.1_Silent_p.V960V|ZBTB25_ENST00000555424.1_Intron|MTHFD1_ENST00000216605.7_Silent_p.V960V|ZBTB25_ENST00000555220.1_Intron	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	904	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACCCCTTAGTAGGAACGGTAA	0.537000													37	63					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68124983	68124983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:68124983C>T	ENST00000380035.2	+	7	2759	c.2701C>T	c.(2701-2703)Cga>Tga	p.R901*	SKOR1_ENST00000554054.1_Nonsense_Mutation_p.R873*|SKOR1_ENST00000389002.1_Nonsense_Mutation_p.R857*|SKOR1_ENST00000554240.1_Nonsense_Mutation_p.R862*|SKOR1_ENST00000341418.5_Nonsense_Mutation_p.R804*			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	901					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ATTGGCTTATCGAGAAGAAAT	0.517000											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	50					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239650	142239650	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142239650C>T	ENST00000390363.2	-	0	276																											AAGAATGTTTCCTTTTGCTCT	0.488000													14	89					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48157688	48157688	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:48157688C>T	ENST00000418331.2	+	9	2065	c.1713C>T	c.(1711-1713)taC>taT	p.Y571Y		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	571	Fibronectin type-III 6.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTATGTCTACCATTTAGTCA	0.512000													13	35					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140165879	140165879	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140165879G>A	ENST00000504120.2	+	1	4	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	PCDHA1_ENST00000378133.3_Missense_Mutation_p.V2M|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V2M	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCAATGGTGTTTTCTAG	0.483000													37	90					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050544	32050544	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:32050544C>T	ENST00000271064.7	+	7	840	c.764C>T	c.(763-765)tCg>tTg	p.S255L	TINAGL1_ENST00000457433.2_Missense_Mutation_p.S224L|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	255					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCTGTCCTGTCGCCCCAGAAC	0.627000													24	41					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36124729	36124729	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:36124729G>A	ENST00000540320.1	+	42	7235	c.6701G>A	c.(6700-6702)cGa>cAa	p.R2234Q	NBEA_ENST00000379939.2_Missense_Mutation_p.R2231Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R2234Q|NBEA_ENST00000537702.1_Missense_Mutation_p.R27Q|NBEA_ENST00000400445.3_Missense_Mutation_p.R2234Q			Q8NFP9	NBEA_HUMAN	neurobeachin	2234						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGGCAAACCGAAGTAAGTCC	0.343000													7	16					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313631	79313631	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:79313631C>T	ENST00000305089.3	-	4	264		c.e4-1			NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta						cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GGCAATAGAGCTGTTGGAGAA	0.498000													36	52					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11400788	11400788	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:11400788G>A	ENST00000259089.4	+	2	647	c.55G>A	c.(55-57)Gac>Aac	p.D19N	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	19					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAAAGAGAAGGACAAGGGCCA	0.607000													15	10					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4794954	4794954	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:4794954G>A	ENST00000328914.4	+	4	990	c.990G>A	c.(988-990)ggG>ggA	p.G330G	FOXK1_ENST00000446823.1_Silent_p.G167G	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	330					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCCTGAGCGGGATCTACGCCC	0.642000													36	40					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630464	203630464	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:203630464C>T	ENST00000303116.6	+	8	1757	c.1015C>T	c.(1015-1017)Cca>Tca	p.P339S	FAM117B_ENST00000392238.2_Missense_Mutation_p.P583S	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	583										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ACCACCAGAACCAATTGAGGA	0.512000													12	19					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182171	140182171	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140182171C>T	ENST00000522353.2	+	1	1389	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.F463F|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGTGTTCGTGAAGGAGA	0.662000													58	77					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293756	33293756	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:33293756C>T	ENST00000280979.4	+	13	6907	c.6737C>T	c.(6736-6738)cCt>cTt	p.P2246L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2246					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGTTTACTCCTTCAAAGCTT	0.438000													10	22					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685634	51685634	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:51685634G>A	ENST00000267012.4	-	10	1317	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	BIN2_ENST00000452142.2_Missense_Mutation_p.P387L|BIN2_ENST00000544402.1_Missense_Mutation_p.P393L|BIN2_ENST00000604560.1_Missense_Mutation_p.P392L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	419	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGCTCTGGGTGGAGGAGGCCT	0.607000													22	25					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1967762	1967762	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:1967762C>T	ENST00000382722.5	-	20	2351	c.1989G>A	c.(1987-1989)ggG>ggA	p.G663G	CACNA2D4_ENST00000585708.1_Silent_p.G599G|CACNA2D4_ENST00000586184.1_Silent_p.G663G|CACNA2D4_ENST00000587995.1_Silent_p.G638G|CACNA2D4_ENST00000588077.1_Silent_p.G599G|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585732.1_Silent_p.G524G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	663						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGACGTGTTCCCCAGAAGGA	0.587000													12	50					0	0	1	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6990791	6990791	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:6990791G>A	ENST00000600751.1	-	0	66					NR_024075.1																						AGCAGGACCAGGAGGAACCTG	0.498000													14	51					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141116507	141116507	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141116507G>A	ENST00000389484.3	-	73	12111	c.11140C>T	c.(11140-11142)Ctt>Ttt	p.L3714F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3714	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L3714I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGGACAAAGAAATTTGACT	0.368000										TSP Lung(27;0.18)			16	39					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8198186	8198186	+	Missense_Mutation	SNP	G	G	C	rs17847180		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:8198186G>C	ENST00000402384.3	-	7	942	c.676C>G	c.(676-678)Ctc>Gtc	p.L226V	ICA1_ENST00000401396.1_Missense_Mutation_p.L214V|ICA1_ENST00000407906.1_Missense_Mutation_p.L226V|ICA1_ENST00000265577.7_Missense_Mutation_p.L225V|ICA1_ENST00000396675.3_Missense_Mutation_p.L226V|ICA1_ENST00000422063.2_Missense_Mutation_p.L226V|ICA1_ENST00000406470.2_Missense_Mutation_p.L226V			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	226	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGAGACAAGAGATTGCATCTG	0.373000													32	40					0	0	1	0	0
GBAP1	2630	broad.mit.edu	37	1	155186322	155186322	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:155186322G>A	ENST00000486869.1	-	0	746					NR_002188.2																						GGCACTGGAAGGGGTATCCAC	0.552000													18	27					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13786245	13786245	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:13786245A>G	ENST00000380567.1	+	22	3282	c.2410A>G	c.(2410-2412)Aat>Gat	p.N804D	OFD1_ENST00000340096.6_Missense_Mutation_p.N944D|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.N904D			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	944	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATGAGTAATCAAGAAAT	0.323000													12	7					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18719980	18719980	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:18719980G>A	ENST00000433979.1	+	28	3993	c.3877G>A	c.(3877-3879)Gaa>Aaa	p.E1293K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1334K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1293K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1293	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGTATCACATGAAGTTACAAA	0.299000													21	31					0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092319	40092319	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:40092319G>A	ENST00000372852.3	-	5	1166	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	HEYL_ENST00000535435.1_Missense_Mutation_p.P255S	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	283	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGACCAGGGGGTGTTGGGGAG	0.682000													3	5					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61844939	61844939	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:61844939G>A	ENST00000280772.1	-	31	4012	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	ANK3_ENST00000373827.2_Missense_Mutation_p.S1268F|ANK3_ENST00000355288.2_Missense_Mutation_p.S408F|ANK3_ENST00000503366.1_Missense_Mutation_p.S1275F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1274					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTTGTAAAGGAGACACAATC	0.388000													16	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457292	179457292	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179457292G>A	ENST00000589042.1	-	301	59664	c.59440C>T	c.(59440-59442)Cca>Tca	p.P19814S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10749S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18173S|TTN_ENST00000342992.6_Missense_Mutation_p.P17246S|TTN_ENST00000342175.6_Missense_Mutation_p.P10941S|TTN_ENST00000359218.5_Missense_Mutation_p.P10874S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18173	Fibronectin type-III 43.						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)			TTTGGGAATGGCACTCCTTTG	0.408000													40	103					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55047556	55047556	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:55047556C>T	ENST00000330807.5	-	5	704	c.567G>A	c.(565-567)aaG>aaA	p.K189K	ALAS2_ENST00000396198.3_Silent_p.K176K|ALAS2_ENST00000335854.4_Silent_p.K152K	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	189					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CGGACACATCCTTTGAGGCCA	0.517000													22	11					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426639	10426639	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10426639C>T	ENST00000245503.5	-	38	5947	c.5563G>A	c.(5563-5565)Gaa>Aaa	p.E1855K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1855K|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1855					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TAAGTGAGTTCCTTCACTCGC	0.458000													22	70					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879677	149879677	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:149879677G>A	ENST00000369146.3	-	9	1951	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	SV2A_ENST00000369145.1_Silent_p.F487F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	487					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCTCCCCGGGGAACACTTTGG	0.517000													62	97					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4254582	4254582	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4254582C>T	ENST00000399609.3	-	2	127	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SRL_ENST00000537996.1_5'UTR	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	498	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.E39K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGGGTCTTCTCGATGTGGGAG	0.572000													29	49					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749661	234749661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:234749661G>A	ENST00000411486.2	-	8	1830	c.1765C>T	c.(1765-1767)Caa>Taa	p.Q589*	HJURP_ENST00000441687.1_Nonsense_Mutation_p.Q504*|HJURP_ENST00000432087.1_Nonsense_Mutation_p.Q535*	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	589					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.Q589*(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CAATACTTTTGATGAAGCTTG	0.413000													21	45					0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35262980	35262980	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:35262980G>A	ENST00000262866.4	-	3	526	c.104C>T	c.(103-105)gCc>gTc	p.A35V	SLA2_ENST00000360672.2_Missense_Mutation_p.A35V	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	35	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CACGGCTGTGGCCTTGCTTCT	0.612000													5	14					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20362025	20362025	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:20362025A>G	ENST00000396134.2	-	2	158	c.35T>C	c.(34-36)gTg>gCg	p.V12A	UMOD_ENST00000396142.2_Missense_Mutation_p.V12A|UMOD_ENST00000302509.4_Missense_Mutation_p.V12A|UMOD_ENST00000424589.1_Missense_Mutation_p.V12A|UMOD_ENST00000396138.4_Missense_Mutation_p.V61A|UMOD_ENST00000570689.1_Missense_Mutation_p.V12A	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	12					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCCACCACCACCATCAGCAT	0.517000													15	30					0	0	1	0	0
ATF1	466	broad.mit.edu	37	12	51213539	51213539	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:51213539C>T	ENST00000262053.3	+	7	815	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F	ATF1_ENST00000539132.1_Missense_Mutation_p.L130F	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	265					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						TTTGAAGGATCTTTATTCCAA	0.284000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								10	23					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102900995	102900995	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:102900995C>T	ENST00000359520.7	+	9	2067	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	TECPR2_ENST00000558678.1_Missense_Mutation_p.P614L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	614							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACACAGTTACCCTTCCAAGAA	0.552000													14	18					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686434	181686434	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:181686434C>T	ENST00000526775.1	+	11	1686	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	CACNA1E_ENST00000367573.2_Silent_p.L507L|CACNA1E_ENST00000358338.5_Silent_p.L458L|CACNA1E_ENST00000367570.1_Silent_p.L507L|CACNA1E_ENST00000367567.4_Silent_p.L114L|CACNA1E_ENST00000357570.5_Silent_p.L458L|CACNA1E_ENST00000360108.3_Silent_p.L507L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	507					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCACCCACCTCCTCTGTAAGT	0.547000													16	45					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71887755	71887755	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:71887755C>T	ENST00000258104.3	+	44	5137	c.4860C>T	c.(4858-4860)ccC>ccT	p.P1620P	DYSF_ENST00000429174.2_Silent_p.P1641P|DYSF_ENST00000413539.2_Silent_p.P1651P|DYSF_ENST00000410020.3_Silent_p.P1659P|DYSF_ENST00000409582.3_Silent_p.P1658P|DYSF_ENST00000409744.1_Silent_p.P1628P|DYSF_ENST00000410041.1_Silent_p.P1638P|DYSF_ENST00000394120.2_Silent_p.P1621P|DYSF_ENST00000409366.1_Silent_p.P1642P|DYSF_ENST00000409762.1_Silent_p.P1637P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Silent_p.P1652P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1620	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTACATCCCCTGCACGCTGG	0.498000													27	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605956	179605956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179605956G>A	ENST00000589042.1	-	48	12228	c.12004C>T	c.(12004-12006)Cag>Tag	p.Q4002*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q3639*|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q3685*|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q3831*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q3764*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3685							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)			TCTTCCCTCTGAGGGTCATTG	0.438000													19	41					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596626	24596626	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:24596626C>T	ENST00000535378.1	-	4	891	c.249G>A	c.(247-249)aaG>aaA	p.K83K	KIAA0319_ENST00000378214.3_Silent_p.K92K|KIAA0319_ENST00000537886.1_Silent_p.K92K|KIAA0319_ENST00000430948.2_Silent_p.K47K|KIAA0319_ENST00000543707.1_Silent_p.K92K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	92	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGGGGCCCATCTTCTTGGGCT	0.602000													23	74					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183300	167183300	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:167183300G>A	ENST00000476257.1	-	5	938	c.640C>T	c.(640-642)Cca>Tca	p.P214S	SERPINI2_ENST00000264677.4_Missense_Mutation_p.P214S|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P214S|SERPINI2_ENST00000471111.1_Missense_Mutation_p.P214S			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	214					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P214S(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTCATCATTGGAATTTTGACA	0.318000													8	27					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68170430	68170430	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:68170430G>A	ENST00000262215.3	-	16	2720	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	ARFGEF1_ENST00000520381.1_Silent_p.F231F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	777	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.F777F(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGGCTGAAACGAAGTCTTTTC	0.383000													43	12					0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30578348	30578348	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:30578348G>A	ENST00000378962.3	-	3	447	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	42										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGAGGAATAGGAAAGGGTAGC	0.453000													63	18					0	0	1	0	0
EDF1	8721	broad.mit.edu	37	9	139756759	139756759	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:139756759C>T	ENST00000224073.1	-	5	451	c.424G>A	c.(424-426)Gag>Aag	p.E142K	EDF1_ENST00000371649.1_3'UTR	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	142					endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGCCCCTTCTCGATGGGCTTT	0.612000													57	107					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209788748	209788748	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:209788748C>T	ENST00000391911.1	-	22	3776	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	LAMB3_ENST00000356082.4_Missense_Mutation_p.M1129I|LAMB3_ENST00000367030.3_Missense_Mutation_p.M1129I	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1129	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTCCAACTCCATGTCTGAGG	0.587000													26	36					0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56397910	56397910	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:56397910C>T	ENST00000394109.3	+	3	1461	c.737C>T	c.(736-738)tCc>tTc	p.S246F	SUOX_ENST00000356124.4_Missense_Mutation_p.S246F|SUOX_ENST00000266971.3_Missense_Mutation_p.S246F|SUOX_ENST00000394115.2_Missense_Mutation_p.S246F|SUOX_ENST00000548274.1_Missense_Mutation_p.S246F|SUOX_ENST00000551841.2_Intron			P51687	SUOX_HUMAN	sulfite oxidase	246	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTGTCTCTTTCCCTGGATGAC	0.517000													18	49					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001897	177001897	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:177001897G>A	ENST00000367654.2	-	3	573	c.560C>T	c.(559-561)cCg>cTg	p.P187L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.P187L|ASTN1_ENST00000361833.2_Missense_Mutation_p.P187L|ASTN1_ENST00000367657.3_Missense_Mutation_p.P187L			O14525	ASTN1_HUMAN	astrotactin 1	187					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGGGGCTGCGGGACCCGGCG	0.612000													20	31					0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30985180	30985180	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:30985180A>G	ENST00000354694.6	-	2	208	c.102T>C	c.(100-102)ttT>ttC	p.F34F	PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402284.3_Silent_p.F34F|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000335214.6_Silent_p.F34F	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	34	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ATATTCACCTAAAGTCAGCCA	0.517000													5	25					0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86163066	86163066	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:86163066C>T	ENST00000321764.3	+	2	437	c.135C>T	c.(133-135)ctC>ctT	p.L45L	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	45					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.L45L(1)		large_intestine(1)|lung(6)	7						ACTCTTCCCTCCGACCACTTA	0.408000													104	92					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21147717	21147717	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:21147717G>A	ENST00000261383.3	-	6	813	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	DNAH3_ENST00000415178.1_Silent_p.L272L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	272	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGGGCTCCAGGAAGGGACTC	0.517000													38	84					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103898686	103898686	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:103898686C>T	ENST00000278070.2	+	4	579	c.540C>T	c.(538-540)atC>atT	p.I180I	PPRC1_ENST00000413464.2_Silent_p.I180I	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTGACCTCATCACCCCAGTTG	0.547000													24	31					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457492	107457492	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:107457492G>A	ENST00000318763.5	+	1	833	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TAATTGTGCTGAGGGAAGAAA	0.388000													34	21					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104459995	104459995	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:104459995T>G	ENST00000229330.4	+	2	318	c.214T>G	c.(214-216)Tgt>Ggt	p.C72G		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	72					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCCTCCAGGCTGTGCTGCCCA	0.398000													57	89					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5139180	5139180	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:5139180G>A	ENST00000427587.4	-	7	888	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	FAM86A_ENST00000587133.1_Missense_Mutation_p.R213W|FAM86A_ENST00000458008.4_Missense_Mutation_p.R240W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	274										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TCAGGAGCCCGCTGGTGCTCC	0.637000													4	80					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206784	58206784	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:58206784G>A	ENST00000302572.2	-	1	862	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCAACATGGGAATGACTATG	0.423000													17	29					0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529414	40529414	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:40529414C>T	ENST00000447116.2	+	6	1840	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ZNF619_ENST00000432264.2_Silent_p.F471F|ZNF619_ENST00000429348.2_Silent_p.F471F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.F511F|ZNF619_ENST00000522736.1_Silent_p.F462F|ZNF619_ENST00000456778.1_Silent_p.F427F|ZNF619_ENST00000314686.5_Silent_p.F455F	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	511					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ATGCAAGTTTCATCCAGCATC	0.498000													21	29					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160034	132160034	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:132160034T>G	ENST00000511190.1	-	6	2684	c.2215A>C	c.(2215-2217)Act>Cct	p.T739P	USP26_ENST00000406273.1_Missense_Mutation_p.T739P|USP26_ENST00000370832.1_Missense_Mutation_p.T739P	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	739					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CACTGCTGAGTCTGTTCAGAC	0.418000													36	13					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58946342	58946342	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58946342G>A	ENST00000254166.3	-	3	869	c.469C>T	c.(469-471)Ctt>Ttt	p.L157F		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGCTGGTGAAGGTTTGCATTC	0.498000													20	51					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334253	77334253	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:77334253G>A	ENST00000282849.5	-	17	2999	c.2581C>T	c.(2581-2583)Ccc>Tcc	p.P861S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	861	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGACCTTGGGAAGTGCATAC	0.478000													30	47					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151674	73151674	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:73151674G>A	ENST00000377110.2	-	25	4562	c.4319C>T	c.(4318-4320)cCt>cTt	p.P1440L	TRPM3_ENST00000358082.3_Missense_Mutation_p.P1302L|TRPM3_ENST00000377106.1_Missense_Mutation_p.P1312L|TRPM3_ENST00000423814.3_Missense_Mutation_p.P1467L|TRPM3_ENST00000408909.2_Missense_Mutation_p.P1299L|TRPM3_ENST00000396280.5_Missense_Mutation_p.P1289L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Missense_Mutation_p.P1299L|TRPM3_ENST00000396292.4_Missense_Mutation_p.P1312L|TRPM3_ENST00000377105.1_Missense_Mutation_p.P1299L|TRPM3_ENST00000357533.2_Missense_Mutation_p.P1444L|TRPM3_ENST00000360823.2_Missense_Mutation_p.P1302L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1465						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTACTTGAAGGGGCTGTGGA	0.502000													27	53					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843639	4843639	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4843639G>A	ENST00000322110.5	+	1	1089	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	342					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCATTTATGAATAAGTGCT	0.348000													7	25					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153699493	153699493	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:153699493C>T	ENST00000369682.3	+	31	5377	c.5202C>T	c.(5200-5202)ttC>ttT	p.F1734F		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1734					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCGCAGTTCGTGTTCGACA	0.607000													52	16					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14602410	14602410	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:14602410C>T	ENST00000274217.3	+	5	587	c.467C>T	c.(466-468)cCa>cTa	p.P156L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	156										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					ATCTCTTTTCCATCATGGATG	0.408000													22	39					0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48820004	48820004	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:48820004G>A	ENST00000218176.3	-	6	3079	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	KCND1_ENST00000376477.1_Silent_p.F217F	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	594						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						TGGCAGCCACGAAGTCCCGGC	0.617000													8	6					0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77769936	77769936	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:77769936C>T	ENST00000381714.3	+	8	1083	c.655C>T	c.(655-657)Cct>Tct	p.P219S	HMG20A_ENST00000336216.4_Missense_Mutation_p.P219S	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	219					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTTTGACATCCCTATATTTAC	0.333000													17	28					0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812716	31812716	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:31812716C>T	ENST00000334067.3	+	1	120	c.71C>T	c.(70-72)tCc>tTc	p.S24F		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	24						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TATCCAGTTTCCACTTATAAT	0.458000													23	36					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2526745	2526745	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:2526745C>T	ENST00000288709.6	-	16	1767	c.1527G>A	c.(1525-1527)atG>atA	p.M509I	MMEL1_ENST00000378412.3_Missense_Mutation_p.M518I|MMEL1_ENST00000502556.1_Missense_Mutation_p.M361I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	518					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCGCCTGTTCATCTCCTCCA	0.652000													16	36					0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36055365	36055365	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:36055365C>T	ENST00000409652.3	+	3	1030	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	252					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CTTGGCCACTCTCTCAAAGGA	0.532000													26	74					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111130	81111130	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81111130G>A	ENST00000228644.3	+	1	440	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	96	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.L96L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGAGGCGCCTGAAGAAGGTCA	0.602000													13	28					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203765	23203765	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:23203765C>T	ENST00000300061.2	+	4	854	c.711C>T	c.(709-711)atC>atT	p.I237I		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	237					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACATGAACATCATGGCACAGG	0.493000													29	53					0	0	1	0	0
HSF4	3299	broad.mit.edu	37	16	67199648	67199648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:67199648G>T	ENST00000264009.8	+	5	1224	c.259G>T	c.(259-261)Gag>Tag	p.E87*	HSF4_ENST00000584272.1_Nonsense_Mutation_p.E87*|RP11-5A19.5_ENST00000580114.1_3'UTR|HSF4_ENST00000521374.1_Nonsense_Mutation_p.E87*|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Nonsense_Mutation_p.E87*	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	87					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGTGAGCATCGAGCAGGGCGG	0.731000													11	10					2.32078e-09	2.34304e-09	1	1	0
PRB2	653247	broad.mit.edu	37	12	11546771	11546771	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:11546771G>C	ENST00000389362.4	-	3	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612000													8	240					0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32099612	32099612	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:32099612A>G	ENST00000327423.6	-	6	6113	c.5924T>C	c.(5923-5925)gTt>gCt	p.V1975A	PRR14L_ENST00000397493.2_Missense_Mutation_p.V1975A|PRR14L_ENST00000434485.1_Missense_Mutation_p.V1975A	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1975										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CAATCCACGAACCTGGAACTC	0.547000													30	96					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87614357	87614357	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:87614357G>A	ENST00000327946.7	-	8	1214	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	377						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ACCCCAGTGAGGCCAGTGATG	0.493000										Multiple Myeloma(13;0.14)			18	46					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519830	58519830	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:58519830G>A	ENST00000302819.5	-	4	657	c.366C>T	c.(364-366)ttC>ttT	p.F122F	ACOX2_ENST00000459701.2_Silent_p.F122F	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	122					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GGGCTCTCACGAAGACTCTGT	0.527000													15	48					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33477897	33477897	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:33477897C>T	ENST00000404816.2	+	11	2506	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L	LTBP1_ENST00000407925.1_Missense_Mutation_p.P392L|LTBP1_ENST00000402934.1_Missense_Mutation_p.P392L|LTBP1_ENST00000390003.4_Missense_Mutation_p.P392L|LTBP1_ENST00000404525.1_Missense_Mutation_p.P392L|LTBP1_ENST00000354476.3_Missense_Mutation_p.P718L|LTBP1_ENST00000418533.2_Missense_Mutation_p.P392L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	718	TB 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAGAAATGTCCCCTTCCAGGC	0.542000													48	78					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416329	187416329	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:187416329A>G	ENST00000358241.1	-	2	1063	c.635T>C	c.(634-636)gTt>gCt	p.V212A		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	212					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CAGGTAAACAACGAGCAGGCA	0.577000													11	16					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389873	150389873	+	Missense_Mutation	SNP	G	G	A	rs150902506	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150389873G>A	ENST00000223293.5	+	3	593	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	167						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGATAACAAAGCCCTAAGCAA	0.498000													59	57					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109615	98109615	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:98109615C>T	ENST00000383695.1	+	1	106	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TGCCATCTATCTGATCACCAT	0.403000													62	129					0	0	1	0	0
PYDC2	152138	broad.mit.edu	37	3	191179085	191179085	+	Missense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:191179085C>A	ENST00000518817.1	+	1	134	c.134C>A	c.(133-135)aCa>aAa	p.T45K		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	45	DAPIN.					cytoplasm|nucleus		p.T45R(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GTCCCCCAGACAGAGGTAGAC	0.532000													32	65					5.91797e-21	6.01798e-21	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106974288	106974288	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:106974288C>T	ENST00000369701.3	+	18	2691	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	SORCS3_ENST00000369699.4_Missense_Mutation_p.R108W	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	822						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAAAGCCCCTCGGGGCCTCCA	0.572000													15	26					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73376484	73376484	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:73376484G>A	ENST00000377101.1	-	8	1194	c.846C>T	c.(844-846)ctC>ctT	p.L282L	TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000360823.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1000						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAAAATGTGGAGACAGCTGG	0.458000													18	34					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166901678	166901678	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:166901678C>T	ENST00000423058.2	-	10	1554	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	SCN1A_ENST00000375405.3_Missense_Mutation_p.E513K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E513K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E513K|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	513						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTTCTCTTCCCCACCAGAC	0.433000													50	132					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47646828	47646828	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:47646828C>T	ENST00000398742.2	+	3	274	c.225C>T	c.(223-225)atC>atT	p.I75I	GPR111_ENST00000507065.1_Silent_p.I75I|GPR111_ENST00000296862.1_Silent_p.I143I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGCACAAGATCACTGACACCT	0.443000													57	42					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274262	68274262	+	Missense_Mutation	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:68274262A>C	ENST00000347230.4	-	5	877	c.739T>G	c.(739-741)Tgc>Ggc	p.C247G	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.C247G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	247					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCGGTCCTGCAGGCCTCTAGT	0.632000													7	20					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975326	37975326	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:37975326C>T	ENST00000330173.1	+	5	1331	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	ZNF570_ENST00000586475.1_Missense_Mutation_p.H324Y|ZNF570_ENST00000388801.3_Missense_Mutation_p.H65Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGGATTCATACTGGAGA	0.393000													22	52					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020494	5020494	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5020494C>T	ENST00000321543.1	+	1	282	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCAGAGATCCAGGCAAGTG	0.478000													34	89					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50845224	50845224	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:50845224C>T	ENST00000359139.3	+	4	728	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	PPP6R2_ENST00000395741.3_Missense_Mutation_p.H112Y|PPP6R2_ENST00000216061.5_Missense_Mutation_p.H112Y|PPP6R2_ENST00000395744.3_Missense_Mutation_p.H112Y	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	112						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTTCTTGGACCATGAGCCGCC	0.532000													88	293					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23873577	23873577	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:23873577G>A	ENST00000405093.3	-	8	733	c.663C>T	c.(661-663)atC>atT	p.I221I	MYH6_ENST00000356287.3_Silent_p.I221I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	221	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.I221I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGCCTGGATGATCTGGTCCT	0.612000													44	77					0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68772326	68772326	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:68772326C>T	ENST00000303795.4	+	8	1339	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	390					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TAGGAAGAATCCTGTTCATTT	0.408000													23	52					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49937233	49937233	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:49937233G>A	ENST00000257981.6	+	5	1015	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	252					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGCACAGCACGGGAGCCCAGT	0.662000													25	28					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499494	179499494	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179499494T>A	ENST00000589042.1	-	229	42331	c.42107A>T	c.(42106-42108)tAc>tTc	p.Y14036F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y4971F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y12395F|TTN_ENST00000342992.6_Missense_Mutation_p.Y11468F|TTN_ENST00000342175.6_Missense_Mutation_p.Y5163F|TTN_ENST00000359218.5_Missense_Mutation_p.Y5096F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12395	Fibronectin type-III 1.						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)			AAGGGCCTGGTAGAGGACTTC	0.413000													46	55					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87671632	87671632	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:87671632C>T	ENST00000436978.1	+	18	3140	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	PTPN13_ENST00000511467.1_Missense_Mutation_p.S887L|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Missense_Mutation_p.S887L|PTPN13_ENST00000411767.2_Missense_Mutation_p.S887L	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)	887						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.S887L(2)		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)		GAGAGAGCTTCGTTTAGGAGC	0.413000													46	109					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086771	39086771	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:39086771G>A	ENST00000400482.3	-	3	1278	c.689C>T	c.(688-690)tCc>tTc	p.S230F	KCNJ6_ENST00000288309.6_Missense_Mutation_p.S230F	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	230					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CACAATGTGGGAATTCCTAAG	0.532000													17	42					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002450	98002450	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:98002450G>A	ENST00000355273.2	+	1	719	c.719G>A	c.(718-720)aGg>aAg	p.R240K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAGGCGTAAGGAAAGCCTTT	0.408000													11	16					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924520	70924520	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70924520C>G	ENST00000603540.1	+	2	562	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	ADAM21_ENST00000267499.3_Missense_Mutation_p.Q102E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	102					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTGGAGGATCAGCTCTTCAT	0.507000													14	108					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22155674	22155674	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:22155674A>G	ENST00000389398.5	+	26	2795	c.2699A>G	c.(2698-2700)cAc>cGc	p.H900R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	900						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCCGCCAAACACTGCAGCATC	0.468000													9	30					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:55539327G>A	ENST00000220676.1	+	4	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000													54	27					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651266	96651266	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:96651266C>T	ENST00000302103.5	+	3	561	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	79					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GACCTTTGACCTTACATCCTG	0.433000													30	23					0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90320321	90320321	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:90320321C>T	ENST00000341735.3	+	1	733	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	245					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CGACACGGATCCCTGGGCAAC	0.701000													7	10					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107102665	107102665	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:107102665C>T	ENST00000369046.4	+	8	1014	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	304					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGCTGCTGACCTCTTTGAGTC	0.403000													28	23					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107595973	107595973	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:107595973C>T	ENST00000393561.1	-	19	3049	c.2865G>A	c.(2863-2865)agG>agA	p.R955R	LAMB1_ENST00000222399.6_Silent_p.R931R			P07942	LAMB1_HUMAN	laminin, beta 1	931	Laminin EGF-like 9.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTAGCAGCTCCTGGCAAACT	0.532000													16	29					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50450395	50450395	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:50450395G>A	ENST00000331340.3	+	5	734	c.579G>A	c.(577-579)agG>agA	p.R193R	IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Silent_p.R106R|IKZF1_ENST00000359197.5_Silent_p.R193R|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Silent_p.R193R|IKZF1_ENST00000357364.4_Silent_p.R193R|IKZF1_ENST00000343574.5_Silent_p.R106R|IKZF1_ENST00000439701.1_Silent_p.R193R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	193	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCACCTGAGGACGCACTCCG	0.657000			"""D,T"""	BCL6	"""ALL, DLBCL"""								8	13					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67404995	67404995	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:67404995G>A	ENST00000329956.6	+	9	1363	c.1344G>A	c.(1342-1344)cgG>cgA	p.R448R	LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Silent_p.R327R|LRRC36_ENST00000563189.1_Silent_p.R327R|LRRC36_ENST00000290940.7_Silent_p.R180R	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	448										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTCCTCTGCGGACACTGCTGT	0.463000													19	35					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066540	67066540	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:67066540G>A	ENST00000315962.4	+	9	1868	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.E499K|TRIM55_ENST00000353317.5_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	499						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GAGTGGTAAGGAAACTAGTGC	0.562000													63	24					0	0	1	0	0
SAMD13	148418	broad.mit.edu	37	1	84768944	84768944	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:84768944G>A	ENST00000370673.3	+	2	261	c.69G>A	c.(67-69)aaG>aaA	p.K23K	SAMD13_ENST00000370668.3_Silent_p.K9K|SAMD13_ENST00000370670.2_Silent_p.K9K|SAMD13_ENST00000370671.3_Silent_p.K29K|SAMD13_ENST00000370669.1_Silent_p.K9K|SAMD13_ENST00000394834.3_Silent_p.K9K	NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	29										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		TGGAAAACAAGGAAAATGGCT	0.398000													10	16					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28821586	28821586	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:28821586G>A	ENST00000422425.2	+	34	2444	c.2400G>A	c.(2398-2400)acG>acA	p.T800T	PLB1_ENST00000327757.5_Silent_p.T811T	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	811	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAATGACACGAATGCATTCC	0.542000													43	118					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409743	13409743	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:13409743C>T	ENST00000360228.5	-	19	2703	c.2704G>A	c.(2704-2706)Gac>Aac	p.D902N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D903N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	903					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGTGGTGGTCCGACTCGCGG	0.776000													7	10					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043234	35043234	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:35043234A>G	ENST00000312292.5	+	2	655	c.608A>G	c.(607-609)cAc>cGc	p.H203R	C9orf131_ENST00000354479.5_Missense_Mutation_p.H130R|C9orf131_ENST00000421362.2_Missense_Mutation_p.H155R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	203										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCCTCTCTGCACAGCGAGTCC	0.537000													17	58					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160260340	160260340	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160260340G>A	ENST00000241704.7	-	32	3786	c.3557C>T	c.(3556-3558)cCa>cTa	p.P1186L	COPA_ENST00000368069.3_Missense_Mutation_p.P1195L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1186					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCACTGAGTGGACACTTTTC	0.463000													34	49					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49696509	49696509	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:49696509G>A	ENST00000433368.2	-	8	810	c.741C>T	c.(739-741)acC>acT	p.T247T	CRISP3_ENST00000371159.4_Silent_p.T255T|CRISP3_ENST00000263045.4_Silent_p.T237T|CRISP3_ENST00000423399.2_Silent_p.T134T|CRISP3_ENST00000393666.1_Silent_p.T224T	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	224					innate immune response	proteinaceous extracellular matrix|specific granule		p.T224T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GATGTTTACAGGTTAATGTGA	0.378000													37	98					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025799	79025799	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:79025799G>A	ENST00000446378.2	+	2	1242	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	404						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCTTCACCAGGAACTGCAGCT	0.453000													12	16					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048127	105048127	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:105048127G>A	ENST00000369849.4	+	3	1250	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	401	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAAACTGCTGGAAGGCGAGGA	0.468000													30	58					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34028938	34028938	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:34028938C>T	ENST00000382065.3	-	4	1327	c.621G>A	c.(619-621)ggG>ggA	p.G207G	C1QTNF3_ENST00000231338.7_Silent_p.G134G|C1QTNF3_ENST00000513065.1_5'UTR	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	134	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TGAAGATAATCCCACTGTTCT	0.403000													12	29					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352118	15352118	+	RNA	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:15352118C>G	ENST00000344693.5	-	0	640					NR_027270.1																						CCTTGTGGATCTTCTGCAGTT	0.642000													4	15					0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12666399	12666399	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:12666399T>G	ENST00000297029.5	+	8	1273	c.1172T>G	c.(1171-1173)gTg>gGg	p.V391G	SCIN_ENST00000445618.2_Missense_Mutation_p.V144G|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Missense_Mutation_p.V144G	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	391	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CACAATATGGTGGATGATGGT	0.433000													6	9					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64738852	64738852	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:64738852G>A	ENST00000413366.3	+	13	1524	c.1498G>A	c.(1498-1500)Ggg>Agg	p.G500R		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	500	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GACCTTCTGTGGGACTCCAGA	0.483000													11	39					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70986244	70986244	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70986244C>T	ENST00000334414.6	-	7	1642	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	PTPRB_ENST00000551525.1_Missense_Mutation_p.G532E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315E|PTPRB_ENST00000261266.5_Missense_Mutation_p.G315E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	315	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCACATTTCCAGGAGGTCT	0.413000													8	11					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94120290	94120290	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:94120290G>A	ENST00000553484.1	+	39	6538	c.6384G>A	c.(6382-6384)ggG>ggA	p.G2128G	UNC79_ENST00000256339.4_Silent_p.G1929G|UNC79_ENST00000393151.2_Silent_p.G2106G|UNC79_ENST00000555664.1_Silent_p.G2067G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2106						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTCCAGATGGGACTTTTTTAC	0.483000													54	111					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596291	48596291	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:48596291T>C	ENST00000310248.2	-	1	879	c.785A>G	c.(784-786)aAc>aGc	p.N262S		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GCTGTGGGGGTTCATGTAAGA	0.493000													9	26					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55890037C>T	ENST00000313472.3	+	1	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000													81	157					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137772724	137772724	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:137772724C>T	ENST00000350339.2	+	1	71	c.57C>T	c.(55-57)ttC>ttT	p.F19F	FCN2_ENST00000291744.6_Silent_p.F19F	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	19					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TGCTCTCTTTCCTGGGCATGG	0.612000													8	11					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264143	46264143	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:46264143C>T	ENST00000372004.3	+	11	1406	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	NCOA3_ENST00000341724.6_Missense_Mutation_p.S407L|NCOA3_ENST00000371998.3_Missense_Mutation_p.S397L|NCOA3_ENST00000371997.3_Missense_Mutation_p.S407L	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	397					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCAACAGTTCGGTAGGCGGC	0.502000													26	31					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21098365	21098365	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:21098365C>T	ENST00000261383.3	-	19	2681	c.2682G>A	c.(2680-2682)ctG>ctA	p.L894L	DNAH3_ENST00000415178.1_Silent_p.L894L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	894	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTCAGCATTCAGTAAGAAGA	0.468000													31	59					0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74912474	74912474	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:74912474C>T	ENST00000395066.3	+	3	1182	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CLK3_ENST00000348245.3_Missense_Mutation_p.R93W|CLK3_ENST00000352989.5_Missense_Mutation_p.R93W|CLK3_ENST00000345005.4_Missense_Mutation_p.R93W	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	241	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TCGTCATCGTCGGCGATCGCG	0.627000													62	109					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155655416	155655416	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:155655416C>T	ENST00000496455.1	+	16	2352	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S	GMPS_ENST00000295920.7_Missense_Mutation_p.P574S	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	673					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TAAGAAGATTCCTGGTATTTC	0.383000			T	MLL	AML								12	36					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070575	32070575	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:32070575G>A	ENST00000566806.1	-	0	499																											CTGGGGCTGAGGTGAAGAAGC	0.587000													13	42					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886880	55886880	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55886880C>T	ENST00000379662.1	+	1	734	c.734C>T	c.(733-735)tCt>tTt	p.S245F	RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.S240F|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCTACCTGTTCTTCACATATT	0.348000													16	29					0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69487993	69487993	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:69487993G>A	ENST00000279147.4	-	2	254	c.147C>T	c.(145-147)atC>atT	p.I49I	ORAOV1_ENST00000535657.1_Silent_p.I49I|ORAOV1_ENST00000536870.1_Intron|ORAOV1_ENST00000539414.1_Silent_p.I49I|ORAOV1_ENST00000542341.1_Silent_p.I49I	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	49										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CCTCAGACCCGATTTTGGCTC	0.463000													31	51					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090316	31090316	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:31090316C>T	ENST00000394979.2	+	1	3094	c.2671C>T	c.(2671-2673)Cct>Tct	p.P891S	ZNF646_ENST00000300850.5_Missense_Mutation_p.P891S			O15015	ZN646_HUMAN	zinc finger protein 646	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CATGATCTTCCCTGGGCGGGC	0.642000													17	20					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631397	9631397	+	Missense_Mutation	SNP	C	C	T	rs76912039		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:9631397C>T	ENST00000570827.2	+	15	2603	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	USP43_ENST00000285199.6_Missense_Mutation_p.S821F|USP43_ENST00000570475.1_Missense_Mutation_p.S816F			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	821					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TCCTTTGGATCCAAGGAGAAA	0.577000													7	12					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6043355	6043355	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:6043355G>A	ENST00000265849.7	-	4	424	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	PMS2_ENST00000382321.4_Missense_Mutation_p.R107W|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R107W	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	107					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCTTCCCCCCGAAAGCCAAAA	0.403000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				19	32					0	0	1	0	0
ZNF561	93134	broad.mit.edu	37	19	9721101	9721101	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9721101C>T	ENST00000302851.3	-	6	1599	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	ZNF561_ENST00000424629.1_Silent_p.L343L|ZNF561_ENST00000354661.4_Silent_p.L276L|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L343F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TATGAGTTTTCAAATGTTTAC	0.408000													35	72					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843419	38843419	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:38843419C>T	ENST00000359357.3	+	51	7276	c.7022C>T	c.(7021-7023)tCc>tTc	p.S2341F	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2558F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2305F					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						GGCGGTGTTTCCTGTGTCGAA	0.338000													13	67					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000860	41000860	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:41000860T>G	ENST00000399564.4	-	38	4720	c.4270A>C	c.(4270-4272)Att>Ctt	p.I1424L	MROH2B_ENST00000506092.2_Missense_Mutation_p.I979L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCAAAAAAAATCTTCCACCTT	0.458000													3	5					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101598822	101598822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:101598822C>T	ENST00000335681.5	+	16	1897	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*	NPAS2_ENST00000542504.1_Nonsense_Mutation_p.Q603*	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	538					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCTGGTCCAGGACTCCAA	0.627000													7	21					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992432	42992432	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:42992432C>T	ENST00000253408.5	-	1	488	c.423G>A	c.(421-423)agG>agA	p.R141R	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.R141R|GFAP_ENST00000435360.2_Silent_p.R141R	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	141	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CCAGATTGTCCCTCTCAACCT	0.637000													10	28					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833197	6833197	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:6833197C>T	ENST00000304076.2	+	16	1605	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	VAV1_ENST00000599806.1_Missense_Mutation_p.S449F|VAV1_ENST00000602142.1_Missense_Mutation_p.S504F|VAV1_ENST00000596764.1_Missense_Mutation_p.S472F|VAV1_ENST00000539284.1_Missense_Mutation_p.S407F	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	504	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCCAGCTCCAACATCTAT	0.433000													10	25					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466513	74466513	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:74466513G>A	ENST00000394019.2	-	21	2665	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	SLC4A5_ENST00000377632.1_Silent_p.S756S|SLC4A5_ENST00000359484.4_Silent_p.S692S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Silent_p.S756S|SLC4A5_ENST00000357822.5_Silent_p.S756S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.S756S|SLC4A5_ENST00000358683.4_Silent_p.S692S|SLC4A5_ENST00000346834.4_Silent_p.S756S	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	756						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCAGGGTCATGGAGTATGTCC	0.532000													24	43					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279916	47279916	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47279916G>A	ENST00000271153.4	+	7	844	c.808G>A	c.(808-810)Gat>Aat	p.D270N	CYP4B1_ENST00000371923.4_Missense_Mutation_p.D271N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D256N|CYP4B1_ENST00000452782.2_Missense_Mutation_p.D108N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	270					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGCCCTGCAGGATGAGAAGGT	0.577000													28	24					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106121872	106121872	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:106121872T>G	ENST00000369704.3	+	3	517	c.383T>G	c.(382-384)gTg>gGg	p.V128G	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	128										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGGAAATAGTGAACCTGACC	0.463000													5	15					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61537154	61537154	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:61537154A>G	ENST00000370371.4	-	6	2028	c.1673T>C	c.(1672-1674)gTt>gCt	p.V558A	DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000370368.1_Missense_Mutation_p.V558A|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000354665.4_Missense_Mutation_p.V558A	NM_022105.4	NP_071388.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	0					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CAAAGCTGCAACTCCCAGTCC	0.562000													24	44					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720152	160720152	+	Silent	SNP	C	C	T	rs144271994		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160720152C>T	ENST00000368043.3	+	4	745	c.708C>T	c.(706-708)ctC>ctT	p.L236L	SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.L129L|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L236L|SLAMF7_ENST00000458104.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	236					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGTGCCCCTCCTGCTCAGTC	0.502000													57	124					0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979437	124979437	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:124979437G>A	ENST00000368417.1	+	4	439	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	NKAIN2_ENST00000368416.1_Missense_Mutation_p.A127T|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.A112T	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	127						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CCCAGACTGGGCCCCAGAAGA	0.507000													29	19					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209800749	209800749	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:209800749G>A	ENST00000391911.1	-	11	1853	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	LAMB3_ENST00000356082.4_Silent_p.S488S|LAMB3_ENST00000367030.3_Silent_p.S488S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	488	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GTGGGCTGAGGGAGTTGTGCG	0.657000											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	28					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609794	142609794	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142609794C>T	ENST00000265310.1	-	13	1990	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	548					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.D548N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AAGTCCACGTCGTAGTTGGCA	0.507000													32	132					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119273766	119273766	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:119273766G>A	ENST00000296498.3	-	1	392	c.110C>T	c.(109-111)cCc>cTc	p.P37L		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	37	Pro-rich.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACCCGCAGGGGGCGAATGGCG	0.697000													4	8					0	0	1	0	0
CSRP1	1465	broad.mit.edu	37	1	201465403	201465403	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:201465403C>G	ENST00000367306.1	-	3	392	c.29G>C	c.(28-30)tGt>tCt	p.C10S	CSRP1_ENST00000533432.1_Missense_Mutation_p.C10S|CSRP1_ENST00000532460.1_Missense_Mutation_p.C10S|CSRP1_ENST00000531916.1_Missense_Mutation_p.C10S|CSRP1_ENST00000340006.2_Missense_Mutation_p.C10S|CSRP1_ENST00000526723.1_Missense_Mutation_p.C10S|CSRP1_ENST00000458271.2_5'UTR			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	10	LIM zinc-binding 1.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						ACACACCCCACATTTCTTGCC	0.493000													38	92					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099283	169099283	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:169099283C>T	ENST00000494292.1	-	2	164	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	23							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAAGGTATTTCAGGGTAGTTG	0.433000													8	14					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891225	11891225	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:11891225C>T	ENST00000357901.4	+	4	688	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ZNF441_ENST00000454339.2_Missense_Mutation_p.R129C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCGTATATGTAA	0.398000													23	57					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285260	58285260	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:58285260G>A	ENST00000249750.4	-	6	1334	c.567C>T	c.(565-567)ccC>ccT	p.P189P	ALDH1A2_ENST00000537372.1_Silent_p.P168P|ALDH1A2_ENST00000347587.3_Silent_p.P189P|ALDH1A2_ENST00000558231.1_Silent_p.P160P|ALDH1A2_ENST00000559517.1_Silent_p.P93P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	189					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACATCAGCAGGGGGAAGTTCC	0.413000													14	28					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158970531	158970531	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:158970531G>A	ENST00000485419.1	+	3	259	c.90G>A	c.(88-90)atG>atA	p.M30I	IQCJ_ENST00000451172.1_Missense_Mutation_p.M30I|IQCJ_ENST00000482126.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000397832.2_Missense_Mutation_p.M30I|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000481796.1_Intron	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGCTGGCCATGGATGCAGAGA	0.333000													12	20					0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19699555	19699555	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:19699555G>A	ENST00000395544.4	-	19	2349	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	ULK2_ENST00000361658.2_Missense_Mutation_p.S617F	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	617					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TAACAGGTTGGAAGATGCTTG	0.413000													23	33					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28808689	28808689	+	Missense_Mutation	SNP	G	G	A	rs150817073		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:28808689G>A	ENST00000422425.2	+	25	1806	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	PLB1_ENST00000329020.6_Missense_Mutation_p.E287K|PLB1_ENST00000327757.5_Missense_Mutation_p.E599K	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	599	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TACCCTCATCGAATTCAACAA	0.463000													21	48					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207430	58207430	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:58207430G>A	ENST00000377918.3	+	1	776	c.750G>A	c.(748-750)gtG>gtA	p.V250V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	250	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTACTTGGTGGAACTGCCCG	0.582000													22	38					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41590762	41590762	+	Silent	SNP	G	G	C	rs150512730		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:41590762G>C	ENST00000262415.3	+	17	2607	c.2535G>C	c.(2533-2535)tcG>tcC	p.S845S	DHX8_ENST00000540306.1_Silent_p.S845S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	845	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CAGAGACATCGCTGACTATTG	0.512000													41	82					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233882	28233882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:28233882G>A	ENST00000305242.5	-	11	1488	c.1396C>T	c.(1396-1398)Caa>Taa	p.Q466*	ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q158*|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	466							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTAGCTGTTTGATTTCCTCCC	0.448000													22	47					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70735934	70735934	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70735934G>A	ENST00000551483.1	+	3	4334	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	CNOT2_ENST00000418359.3_Missense_Mutation_p.R409Q|CNOT2_ENST00000229195.3_Missense_Mutation_p.R409Q			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	409					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCACCTTGTCGACCTCAAGAC	0.328000													33	74					0	0	1	0	0
TRGV8	6982	broad.mit.edu	37	7	38370206	38370206	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:38370206C>T	ENST00000390343.2	-	0	205																											CCCAGTTGGCCTGGTGACTGA	0.483000													22	42					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918765	16918765	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16918765G>A	ENST00000524140.2	+	18	4523	c.4105G>A	c.(4105-4107)Ggg>Agg	p.G1369R	NWD1_ENST00000339803.6_Missense_Mutation_p.G1234R|NWD1_ENST00000379808.3_Missense_Mutation_p.G1369R|NWD1_ENST00000549814.1_Missense_Mutation_p.G1327R|NWD1_ENST00000523826.1_Missense_Mutation_p.G1163R|NWD1_ENST00000552788.1_Missense_Mutation_p.G1369R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1369							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGACCAATGGGGACCTCTT	0.562000													55	113					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104139016	104139016	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:104139016G>A	ENST00000388887.2	+	57	6301	c.6097G>A	c.(6097-6099)Gaa>Aaa	p.E2033K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2033					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGCCTCTGTGAAACGGGGTG	0.602000													7	26					0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16729619	16729619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:16729619G>T	ENST00000246081.2	+	2	267	c.223G>T	c.(223-225)Gaa>Taa	p.E75*		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	75	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GCTGGTAAAAGAAAATGGAGC	0.393000													9	20					0.00621372	0.00622258	1	1	0
BRD3	8019	broad.mit.edu	37	9	136913436	136913436	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:136913436G>A	ENST00000303407.7	-	6	1040	c.855C>T	c.(853-855)ccC>ccT	p.P285P	BRD3_ENST00000357885.2_Silent_p.P285P|BRD3_ENST00000371834.2_Silent_p.P285P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	285						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GAGGCTTGATGGGGCGGCCAC	0.677000			T	C15orf55	lethal midline carcinoma of young people								16	31					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243362492	243362492	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:243362492A>G	ENST00000366542.1	-	7	552	c.501T>C	c.(499-501)atT>atC	p.I167I	CEP170_ENST00000366543.1_Silent_p.I167I|CEP170_ENST00000366544.1_Silent_p.I167I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	167						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCATAGCAGAAATATCTGGAA	0.423000													7	22					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576965	28576965	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28576965C>T	ENST00000434452.1	-	15	2439	c.2285G>A	c.(2284-2286)gGt>gAt	p.G762D	DSC3_ENST00000360428.4_Missense_Mutation_p.G762D	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	762					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACCACAAAAACCTTGGCTAGA	0.413000													10	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616249	179616249	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179616249C>T	ENST00000360870.5	-	46	11100	c.10878G>A	c.(10876-10878)agG>agA	p.R3626R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9475	Ig-like 22.						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)			TATCTTCTCCCCTTTCAACTA	0.368000													27	76					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50148193	50148193	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:50148193C>T	ENST00000347869.3	+	17	1620	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	482	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TATTATGACCCCAACTCGCAA	0.398000													28	43					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346525	70346525	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:70346525C>T	ENST00000305107.6	-	6	1460	c.1414G>A	c.(1414-1416)Gga>Aga	p.G472R	UGT2B4_ENST00000381096.3_Missense_Mutation_p.G336R|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	472					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGCTTGGCTCCTTTATGGCGC	0.483000													51	89					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53238373	53238373	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:53238373C>T	ENST00000359499.4	-	5	572	c.561G>A	c.(559-561)aaG>aaA	p.K187K	KRT78_ENST00000304620.4_Silent_p.K297K			Q8N1N4	K2C78_HUMAN	keratin 78	297	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCCTCAGCCTTGCTGCTCC	0.612000													38	64					0	0	1	0	0
MVK	4598	broad.mit.edu	37	12	110017717	110017717	+	Missense_Mutation	SNP	C	C	T	rs104895370		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:110017717C>T	ENST00000228510.3	+	4	413	c.337C>T	c.(337-339)Ctt>Ttt	p.L113F	MVK_ENST00000392727.3_Missense_Mutation_p.L113F|MVK_ENST00000539575.1_Missense_Mutation_p.L113F|MVK_ENST00000541384.1_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000535044.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	113					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GCTGGCCTTTCTTTACTTATA	0.547000													13	26					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587315	55587315	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55587315G>A	ENST00000333976.4	+	1	230	c.210G>A	c.(208-210)gtG>gtA	p.V70V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTCCTTTGTGGATTTCTGCT	0.408000													71	171					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				77	45					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037545	32037545	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:32037545G>A	ENST00000375244.3	-	15	5573	c.5372C>T	c.(5371-5373)tCc>tTc	p.S1791F	TNXB_ENST00000375247.2_Missense_Mutation_p.S1791F			P22105	TENX_HUMAN	tenascin XB	1873	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.S1878F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGCCCACGGAGTTCTGGGT	0.617000													11	24					0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151162562	151162562	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:151162562G>A	ENST00000354473.4	-	1	72	c.36C>T	c.(34-36)acC>acT	p.T12T	VPS72_ENST00000496809.1_Intron	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	12					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTCCCAGCGGTCTTCCGGG	0.632000													38	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612356	179612356	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179612356C>T	ENST00000360870.5	-	46	14993	c.14771G>A	c.(14770-14772)aGa>aAa	p.R4924K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1051	Ig-like 29.						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)			TGCCTGGTCTCTGGTGTCTTT	0.443000													27	38					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1257820	1257820	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:1257820C>T	ENST00000348261.5	+	15	3362	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	CACNA1H_ENST00000358590.4_Silent_p.F1038F|CACNA1H_ENST00000565831.1_Silent_p.F1038F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1038					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGGTCCACTTCGAGGAGGACT	0.632000													5	8					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126726729	126726729	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:126726729C>T	ENST00000251772.4	+	8	2085	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	PLXNA1_ENST00000393409.2_Silent_p.F695F			Q9UIW2	PLXA1_HUMAN	plexin A1	695					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGCGCCTTCCTGGAGGGCC	0.602000													7	37					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067151	190067151	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:190067151A>G	ENST00000367462.3	-	8	2529	c.2298T>C	c.(2296-2298)agT>agC	p.S766S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.S664S	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		766						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTTATGGTTAACTACATAATT	0.373000													46	32					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67328566	67328566	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:67328566C>T	ENST00000304372.5	-	11	1562	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	503						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AAAGCTTCTTCATTTTCAGAT	0.493000													23	60					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838865	16838865	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:16838865G>A	ENST00000355661.3	-	11	1358	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P450S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P450S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	450					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGTCCAAGGGAAGACTGAGG	0.572000													20	23					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924458	24924458	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:24924458G>A	ENST00000329468.2	+	1	3918	c.3444G>A	c.(3442-3444)agG>agA	p.R1148R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CATATGTTAGGAGACATGTCT	0.433000													28	70					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24896075	24896075	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:24896075G>A	ENST00000326010.5	+	2	449	c.104_splice	c.e2-1	p.R35_splice	UPB1_ENST00000413389.2_Intron|UPB1_ENST00000382760.2_Splice_Site_p.R35_splice	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	35					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)					GCCCATCTAGGAAGCTTGATC	0.488000													28	95					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347201	57347201	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:57347201G>A	ENST00000361249.3	+	5	644	c.548G>A	c.(547-549)gGg>gAg	p.G183E		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	183	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTATACAATGGGGAATGGAGG	0.463000													29	78					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114299467	114299467	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:114299467T>G	ENST00000408937.3	+	13	1974	c.1600T>G	c.(1600-1602)Tat>Gat	p.Y534D	FOXP2_ENST00000403559.4_Missense_Mutation_p.Y526D|FOXP2_ENST00000393494.2_Missense_Mutation_p.Y509D|FOXP2_ENST00000393489.3_Missense_Mutation_p.Y417D|FOXP2_ENST00000393498.2_Missense_Mutation_p.Y488D|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.Y509D|FOXP2_ENST00000393491.3_Intron	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	509					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCCATTTACTTATGCAACTCT	0.299000													24	112					0	0	1	0	0
SERTAD3	29946	broad.mit.edu	37	19	40947780	40947780	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:40947780G>A	ENST00000322354.3	-	2	704	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	SERTAD3_ENST00000392028.4_Missense_Mutation_p.R70C	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	70	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCCAGGCGAAGTGCAGCC	0.657000													5	13					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438184	85438184	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:85438184C>T	ENST00000394573.1	+	6	493	c.291C>T	c.(289-291)ttC>ttT	p.F97F	SLC28A1_ENST00000286749.3_Silent_p.F97F|SLC28A1_ENST00000537703.1_Silent_p.F19F|SLC28A1_ENST00000338602.2_Silent_p.F97F|SLC28A1_ENST00000538177.1_Silent_p.F97F|SLC28A1_ENST00000537216.1_Silent_p.F97F|SLC28A1_ENST00000537624.1_Silent_p.F97F	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	97					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTCTGCCTTCCTGCTGGTGG	0.642000													24	39					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32413596	32413596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:32413596G>A	ENST00000332351.3	-	9	1638	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	WT1_ENST00000530998.1_Nonsense_Mutation_p.Q223*|WT1_ENST00000379079.2_Nonsense_Mutation_p.Q240*|WT1_ENST00000448076.3_Nonsense_Mutation_p.Q452*	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	384					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTTTTACACTGGAATGGTTTC	0.512000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				69	94					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045502	35045502	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:35045502G>A	ENST00000312292.5	+	2	2923	c.2876G>A	c.(2875-2877)gGg>gAg	p.G959E	C9orf131_ENST00000354479.5_Missense_Mutation_p.G886E|C9orf131_ENST00000421362.2_Missense_Mutation_p.G911E	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	959										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CATAGAAGAGGGACTGCAAGG	0.537000													36	69					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1280382	1280382	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:1280382G>A	ENST00000310581.5	-	4	1898	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	TERT_ENST00000334602.6_Missense_Mutation_p.P614L|TERT_ENST00000296820.5_Missense_Mutation_p.P614L|TERT_ENST00000508104.2_Missense_Mutation_p.P614L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	614	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGCAGGGCGGGCCTGGCTTC	0.627000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				31	48					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327730	52327730	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:52327730C>T	ENST00000339223.4	+	2	908	c.729C>T	c.(727-729)ttC>ttT	p.F243F	FPR3_ENST00000595991.1_Silent_p.F243F	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	243					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACGTGTCTTCGCTGCTGTGG	0.448000													9	16					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564645	66564645	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:66564645G>A	ENST00000360242.5	+	6	1360	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D415N|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D415N|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D415N	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	415										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTCACAAATTGATCTGCAAGA	0.408000													55	188					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133475801	133475801	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:133475801G>A	ENST00000402696.3	+	7	1303	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	TF_ENST00000264998.3_Missense_Mutation_p.R146Q	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	273	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GTCGTGGCCCGAAGTATGGGC	0.592000													40	58					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													5	145					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111945034	111945034	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:111945034G>A	ENST00000374566.3	-	24	2979	c.2462C>T	c.(2461-2463)aCt>aTt	p.T821I		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	821						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTGGTGAAAGTATCAGGAAA	0.423000													38	97					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101520721	101520721	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:101520721C>T	ENST00000422132.1	+	2	933	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	NXPE3_ENST00000491511.1_Missense_Mutation_p.P246S|NXPE3_ENST00000477909.1_Missense_Mutation_p.P246S|NXPE3_ENST00000273347.5_Missense_Mutation_p.P246S					neurexophilin and PC-esterase domain family, member 3																		CACTGGGGAGCCCTGGTTCTG	0.493000													25	51					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165772482	165772482	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:165772482G>A	ENST00000303735.4	-	6	715	c.383_splice	c.e6-1	p.P129_splice	SLC38A11_ENST00000409058.1_Splice_Site_p.P182_splice|SLC38A11_ENST00000409662.1_Splice_Site_p.P151_splice|SLC38A11_ENST00000409149.3_Splice_Site_p.P151_splice|SLC38A11_ENST00000493887.1_5'UTR	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	151					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TCTGTTTTTGGTCTAGAAGAA	0.358000													40	81					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150704308	150704308	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150704308G>A	ENST00000297494.3	+	17	2413	c.2056G>A	c.(2056-2058)Gac>Aac	p.D686N	NOS3_ENST00000461406.1_Missense_Mutation_p.D480N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	686	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D686Y(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGGCCAGGGCGACGAGCTGTG	0.716000													15	69					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402346	47402346	+	Missense_Mutation	SNP	C	C	T	rs144065752		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47402346C>T	ENST00000310638.4	-	4	531	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	CYP4A11_ENST00000371905.1_Missense_Mutation_p.R167Q|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.R63Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R167Q	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	167					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CAGCATCACTCGTACAGAGTC	0.562000													41	25					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51773085	51773085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:51773085G>A	ENST00000543196.2	-	2	686	c.481C>T	c.(481-483)Cga>Tga	p.R161*	GALNT6_ENST00000356317.3_Nonsense_Mutation_p.R161*			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	161					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCAGGTGGTCGGGTGTCTGGC	0.567000													19	8					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50555621	50555621	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:50555621G>T	ENST00000262794.5	+	9	1378	c.1295G>T	c.(1294-1296)tGt>tTt	p.C432F	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.C432F|MOV10L1_ENST00000540615.1_Missense_Mutation_p.C412F|MOV10L1_ENST00000545383.1_Missense_Mutation_p.C432F	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	432					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTTTTGCTCTGTTTTTCCGAT	0.388000													21	79					0.00127121	0.00127363	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247751934	247751934	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:247751934C>T	ENST00000320065.1	+	1	273	c.273C>T	c.(271-273)ccC>ccT	p.P91P	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	91					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)			TGTGGGAACCCATGAAAACTA	0.517000													29	48					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017418	9017418	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9017418G>A	ENST00000397910.4	-	26	38109	c.37906C>T	c.(37906-37908)Ctg>Ttg	p.L12636L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12638	SEA 4.				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						AGCTGGCTCAGCTCCCAGTAT	0.572000													51	104					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56029286	56029286	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:56029286C>T	ENST00000244728.5	-	9	1703	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	COL21A1_ENST00000370819.1_Missense_Mutation_p.D433N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D436N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	436					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAACCTACATCACTGGGACCA	0.403000													9	3					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72175941	72175941	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:72175941G>A	ENST00000356056.5	-	28	5864	c.5392C>T	c.(5392-5394)Cca>Tca	p.P1798S	MYO9A_ENST00000424560.1_Missense_Mutation_p.P1869S|MYO9A_ENST00000564571.1_Missense_Mutation_p.P1798S|MYO9A_ENST00000444904.1_Missense_Mutation_p.P1779S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1798	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACCATCTGGAAACTGATGA	0.423000													28	42					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26918806	26918806	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:26918806G>A	ENST00000321765.5	-	4	1679	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	449					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GAAGCTGGCGGGAGAGAACCT	0.552000													3	79					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53694281	53694281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:53694281C>T	ENST00000288139.3	+	5	863	c.745C>T	c.(745-747)Cga>Tga	p.R249*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.R249*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.R249*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	249					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCGACCACTTCGACTAGTGTC	0.488000													11	29					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132466781	132466781	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:132466781C>T	ENST00000333577.4	+	6	1904	c.1795C>T	c.(1795-1797)Cca>Tca	p.P599S	EP400_ENST00000330386.6_Missense_Mutation_p.P563S|EP400_ENST00000332482.4_Missense_Mutation_p.P526S|EP400_ENST00000389561.2_Missense_Mutation_p.P563S|EP400_ENST00000389562.2_Missense_Mutation_p.P562S			Q96L91	EP400_HUMAN	E1A binding protein p400	599					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGGCTGCCCCCAGCCGGTGT	0.662000													21	28					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444338	150444338	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:150444338C>T	ENST00000401000.4	+	10	2901	c.2836C>T	c.(2836-2838)Cgt>Tgt	p.R946C	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R972C|RPRD2_ENST00000539519.1_Intron			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	972	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTCCCACATCGTTCCCTTTT	0.577000													133	212					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53573162	53573162	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:53573162G>A	ENST00000025008.5	-	12	2206	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	RB1CC1_ENST00000539297.1_Silent_p.S561S|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.S561S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	561					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATACACAAAAGGAAGGGGGCC	0.318000													13	51					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000977	142000977	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142000977C>T	ENST00000455382.2	+	0	143																											AACCTGAAGTCACCCAGACTC	0.418000													5	21					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185232278	185232278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:185232278C>T	ENST00000296252.4	-	8	1155	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*	LIPH_ENST00000424591.2_Nonsense_Mutation_p.W304*	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	338					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATTCTTGTTCCATGTTATAA	0.393000													18	51					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170515	77170515	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:77170515C>T	ENST00000253506.5	+	2	609	c.240C>T	c.(238-240)atC>atT	p.I80I	NFATC1_ENST00000329101.4_Silent_p.I67I|NFATC1_ENST00000427363.2_Silent_p.I80I|NFATC1_ENST00000542384.1_Silent_p.I80I|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.I80I|NFATC1_ENST00000592223.1_Silent_p.I67I|NFATC1_ENST00000591814.1_Silent_p.I80I|NFATC1_ENST00000318065.5_Silent_p.I67I|NFATC1_ENST00000586434.1_Silent_p.I67I|NFATC1_ENST00000545796.1_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	80					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGGGCATCATCCCGCCGGCGG	0.711000													56	47					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32598603	32598603	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:32598603G>A	ENST00000318709.4	+	10	963	c.742G>A	c.(742-744)Gat>Aat	p.D248N	AVL9_ENST00000409301.1_Missense_Mutation_p.D248N|AVL9_ENST00000404479.1_Missense_Mutation_p.D248N	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	248						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TATGTCTGAAGATGGTGGGCT	0.408000													41	64					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812737	131812737	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:131812737C>T	ENST00000286355.5	-	15	5087	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E868K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	999					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTATTCATTTCAGTCTGAGAG	0.448000										HNSCC(32;0.087)			103	34					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167021941	167021941	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:167021941C>T	ENST00000061240.2	+	21	3602	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F	TLL1_ENST00000507499.1_Silent_p.F1008F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	985	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TAATTCATTTCCACACTGATG	0.328000													38	38					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11300494	11300494	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:11300494G>A	ENST00000361445.4	-	11	1728	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	551					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTGGCGAAGGGGTTTGTGCAT	0.582000													34	41					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964332	123964332	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:123964332G>A	ENST00000314393.4	+	3	1417	c.582G>A	c.(580-582)gcG>gcA	p.A194A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	194						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AACCAAAAGCGGATGCCAAGA	0.572000													34	115					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142148162	142148162	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:142148162C>T	ENST00000519811.1	+	3	497	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	DENND3_ENST00000262585.2_Missense_Mutation_p.H63Y|DENND3_ENST00000424248.1_Missense_Mutation_p.H63Y|DENND3_ENST00000518347.1_Missense_Mutation_p.H143Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	63	DENN.		S -> N (in dbSNP:rs307761).							breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATTGCGTCCACTTCCTGGT	0.582000													18	4					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71497599	71497599	+	Missense_Mutation	SNP	A	A	G	rs121908109		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:71497599A>G	ENST00000396073.3	+	4	438	c.157A>G	c.(157-159)Aaa>Gaa	p.K53E		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	53					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTTAGCAGTAAAAGTGAGGA	0.393000													76	133					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133917055	133917055	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:133917055G>A	ENST00000361069.4	+	7	1448	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	439	Laminin EGF-like 4.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGGCAGCCTGGACACCTGTGA	0.542000													12	29					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908522	103908522	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:103908522A>G	ENST00000302259.3	+	1	1215	c.972A>G	c.(970-972)caA>caG	p.Q324Q	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	324					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTGAGGATCAACCCATGGATA	0.453000													37	80					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158654964	158654964	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158654964C>T	ENST00000368148.3	-	2	378	c.198G>A	c.(196-198)ggG>ggA	p.G66G	SPTA1_ENST00000368147.3_Silent_p.G66G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	66					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)					TGATCCACTtccccagatcat	0.453000													14	24					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850880	13850880	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13850880G>A	ENST00000265104.4	-	31	5099	c.4995C>T	c.(4993-4995)atC>atT	p.I1665I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1665	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCGAGTCATGATCTTCACCC	0.463000									Kartagener syndrome				19	59					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532757	31532757	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:31532757G>A	ENST00000215885.3	-	6	1480	c.1228C>T	c.(1228-1230)Cca>Tca	p.P410S		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	410					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCTCGGGTGGGCTGTGGAGC	0.622000													62	77					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282627	69282627	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:69282627G>A	ENST00000338352.2	+	1	287	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	85										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GATGAATCTGGAAAACCGGCC	0.567000													7	2					0	0	1	0	0
RAB21	23011	broad.mit.edu	37	12	72175847	72175847	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:72175847C>T	ENST00000261263.3	+	5	684	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	143					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						AGACATGTTTCCATTCAAGAA	0.323000													35	51					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120833254	120833254	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:120833254C>T	ENST00000527524.2	+	18	2417	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	GRIK4_ENST00000438375.2_Silent_p.I710I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	710					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGGAGGGAATCGCCAGGGTGT	0.527000													24	40					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84539574	84539574	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:84539574C>G	ENST00000286744.5	+	9	1047	c.823C>G	c.(823-825)Caa>Gaa	p.Q275E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q275E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	275						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAAAACACTTCAAGGAAGCAA	0.333000													8	20					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33591399	33591399	+	Missense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:33591399C>A	ENST00000299977.4	+	4	1484	c.1336C>A	c.(1336-1338)Cag>Aag	p.Q446K	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	446					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TCTAATTTCCCAGAACAACAC	0.453000													22	46					2.4375e-19	2.4763e-19	1	1	0
DNM3	26052	broad.mit.edu	37	1	171958126	171958126	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:171958126G>A	ENST00000358155.4	+	4	603	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	DNM3_ENST00000520906.1_Missense_Mutation_p.V143M|DNM3_ENST00000367733.2_Missense_Mutation_p.V143M|DNM3_ENST00000367731.1_Missense_Mutation_p.V143M|DNM3_ENST00000355305.5_Missense_Mutation_p.V143M	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	143					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATAACTAAAGTGCCTGTGGG	0.393000													6	9					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39794419	39794419	+	Silent	SNP	C	C	T	rs149803392		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:39794419C>T	ENST00000373272.2	+	16	2157	c.1752C>T	c.(1750-1752)ctC>ctT	p.L584L	PLCG1_ENST00000244007.3_Silent_p.L584L|PLCG1_ENST00000373271.1_Silent_p.L584L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	584	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCTCCTTCCTCGTGCGAGAGA	0.582000													17	41					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	124008183	124008183	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:124008183C>T	ENST00000369005.1	+	20	8758	c.8418C>T	c.(8416-8418)gtC>gtT	p.V2806V	TACC2_ENST00000358010.1_Silent_p.V952V|TACC2_ENST00000260733.3_Silent_p.V884V|TACC2_ENST00000369001.1_Silent_p.V433V|TACC2_ENST00000515273.1_Silent_p.V2733V|TACC2_ENST00000515603.1_Silent_p.V2684V|TACC2_ENST00000369004.3_Silent_p.V866V|TACC2_ENST00000368999.1_Silent_p.V896V|TACC2_ENST00000513429.1_Silent_p.V952V|TACC2_ENST00000369000.1_Silent_p.V429V|TACC2_ENST00000360561.3_Silent_p.V854V|TACC2_ENST00000334433.3_Silent_p.V2806V|TACC2_ENST00000453444.2_Silent_p.V2733V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2806						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAAGTCAGTCTCCCACCAGA	0.587000													41	65					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216256831	216256831	+	Silent	SNP	G	G	A	rs147371835	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216256831G>A	ENST00000366943.2	-	26	5651	c.5265C>T	c.(5263-5265)ttC>ttT	p.F1755F	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Silent_p.F1755F|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1755	Laminin G-like 2.				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)		TGTTATAAACGAAAAGAAGCA	0.299000										HNSCC(13;0.011)			36	63					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32039967	32039967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:32039967C>T	ENST00000375244.3	-	13	4991	c.4790G>A	c.(4789-4791)tGg>tAg	p.W1597*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.W1597*			P22105	TENX_HUMAN	tenascin XB	1679	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGACTGTCCATGAGAGGCC	0.632000													41	14					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656921	8656921	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:8656921G>A	ENST00000270328.4	-	13	1920	c.1654C>T	c.(1654-1656)Ccg>Tcg	p.P552S	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P552S|ADAMTS10_ENST00000595838.1_Silent_p.G42G			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	552	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGAGTCCACGGCCCCCAGGCT	0.682000													13	18					0	0	1	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6990792	6990792	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:6990792G>A	ENST00000600751.1	-	0	65					NR_024075.1																						GCAGGACCAGGAGGAACCTGC	0.498000													15	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442623	179442623	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179442623G>A	ENST00000589042.1	-	323	68754	c.68530C>T	c.(68530-68532)Cct>Tct	p.P22844S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13779S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21203S|TTN_ENST00000342992.6_Missense_Mutation_p.P20276S|TTN_ENST00000342175.6_Missense_Mutation_p.P13971S|TTN_ENST00000359218.5_Missense_Mutation_p.P13904S|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21203	Ig-like 117.						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)			TTTCCAGGAGGATCTAAAACA	0.348000													10	14					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101295532	101295532	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:101295532C>T	ENST00000538618.1	+	4	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F	ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						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						GTCAGGCATTCCTCACTCCCA	0.517000										HNSCC(74;0.22)			35	54					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87145973	87145973	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:87145973G>A	ENST00000265724.3	-	25	3353	c.2936C>T	c.(2935-2937)tCa>tTa	p.S979L	ABCB1_ENST00000543898.1_Missense_Mutation_p.S915L|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	979	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GACAACAGCTGAAAATACTCT	0.403000													14	32					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44108098	44108098	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:44108098C>T	ENST00000420999.1	-	6	1006	c.923G>A	c.(922-924)gGt>gAt	p.G308D		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	308	DM10 2.						calcium ion binding	p.G308D(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TATAAAGTCACCATATGAATT	0.398000													13	5					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814899	13814899	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13814899G>A	ENST00000265104.4	-	43	7149	c.7045C>T	c.(7045-7047)Ctg>Ttg	p.L2349L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2349	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2349L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAATTCAGATTTTCAATC	0.393000									Kartagener syndrome				13	39					0	0	1	0	0
RSU1P2	100133308	broad.mit.edu	37	10	45602072	45602072	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:45602072G>A	ENST00000423875.1	-	0	1364																											ACCTAGTTCTGGGCGTAGAAC	0.433000													15	23					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150925668	150925668	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:150925668G>A	ENST00000261800.5	-	9	5032	c.5020C>T	c.(5020-5022)Cct>Tct	p.P1674S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1674	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACCAACAGGGATTGATTCA	0.453000													22	42					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997498	118997498	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:118997498C>T	ENST00000328252.3	+	7	2683	c.2314C>T	c.(2314-2316)Cct>Tct	p.P772S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	772					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACACACGGTTCCTCCAGCCTG	0.562000													25	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9002624	9002624	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9002624G>A	ENST00000397910.4	-	51	40395	c.40192C>T	c.(40192-40194)Cgt>Tgt	p.R13398C	MUC16_ENST00000380951.5_Missense_Mutation_p.R39C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13400	SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R13398C(1)|p.R83C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCAGGACGATGGGTGCAG	0.572000													30	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642656	179642656	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179642656G>A	ENST00000589042.1	-	25	4479	c.4255C>T	c.(4255-4257)Cct>Tct	p.P1419S	TTN_ENST00000460472.2_Missense_Mutation_p.P1373S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P1419S|TTN_ENST00000591111.1_Missense_Mutation_p.P1419S|TTN_ENST00000342992.6_Missense_Mutation_p.P1419S|TTN_ENST00000342175.6_Missense_Mutation_p.P1373S|TTN_ENST00000359218.5_Missense_Mutation_p.P1373S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1419	ZIS5.						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)			ATCCGTGCAGGAGACATGCGT	0.498000													16	21					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737528	248737528	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248737528C>T	ENST00000328782.2	-	1	552	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			TCAGGATTTTCCTAGACTGGC	0.527000													24	36					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32091182	32091182	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:32091182G>A	ENST00000438447.1	+	20	8016	c.7628G>A	c.(7627-7629)gGa>gAa	p.G2543E	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2543E			O15018	PDZD2_HUMAN	PDZ domain containing 2	2543					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGTCCAGGAGGAAGTGGCCCT	0.577000													20	28					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146080637	146080637	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:146080637G>A	ENST00000394413.3	-	2	709	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R47W|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R105W|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R53W|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R113W|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R47W|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R36W|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R50W|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R36W|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R47W			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	47					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTACAACCCGACCCCCCTTG	0.438000													208	324					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132655	52132655	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:52132655C>T	ENST00000222107.4	-	3	794	c.656G>A	c.(655-657)gGa>gAa	p.G219E	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G219E|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G219E|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G219E|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G219E			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	219	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CACCTGAGCTCCTTGGCGTTT	0.632000													30	63					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100443754	100443754	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100443754G>A	ENST00000514652.1	+	3	579	c.225G>A	c.(223-225)agG>agA	p.R75R	C4orf17_ENST00000326581.4_Silent_p.R75R|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	75										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AGAAGAACAGGATACCATTTG	0.483000													21	61					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133961522	133961522	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:133961522G>A	ENST00000298622.4	+	13	1954	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGACCAAAACGAGCTGCTGGA	0.547000													6	12					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36570342	36570342	+	Silent	SNP	G	G	A	rs144959929	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:36570342G>A	ENST00000273183.3	+	10	1275	c.975G>A	c.(973-975)ggG>ggA	p.G325G	STAC_ENST00000457375.2_Silent_p.G264G	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	325	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCTTTCAGGGGAAAATTCAAG	0.338000													3	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089000	9089000	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9089000T>A	ENST00000397910.4	-	1	3018	c.2815A>T	c.(2815-2817)Ata>Tta	p.I939L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	939	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						AGGTGAGATATTTTAGGAAGA	0.483000													27	32					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38816422	38816422	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:38816422T>G	ENST00000476049.1	-	3	304	c.263A>C	c.(262-264)cAg>cCg	p.Q88P	KRT222_ENST00000394052.3_Missense_Mutation_p.Q88P			Q8N1A0	KT222_HUMAN	keratin 222	88						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CTGGTAATGCTGCTCGCTGGC	0.433000													30	49					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53834367	53834367	+	Missense_Mutation	SNP	G	G	A	rs148898845		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:53834367G>A	ENST00000288139.3	+	42	5193	c.5075G>A	c.(5074-5076)cGa>cAa	p.R1692Q	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1657Q|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R51Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1672Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1672					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAAACAAAACGAGAAGAAGAA	0.468000													21	50					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849579	73849579	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:73849579G>A	ENST00000523207.1	+	3	2577	c.1989G>A	c.(1987-1989)agG>agA	p.R663R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	663					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)			CTGCTGCCAGGGATGGCACGC	0.552000													50	6					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38690577	38690577	+	Silent	SNP	C	C	T	rs140456976		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:38690577C>T	ENST00000261438.5	+	3	734	c.429C>T	c.(427-429)ccC>ccT	p.P143P	KLF3_ENST00000514033.1_Silent_p.P143P	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	143	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GGATCCTGCCCGTCATCCAGC	0.617000													23	31					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4685851	4685851	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:4685851C>T	ENST00000354582.6	+	8	907	c.557C>T	c.(556-558)cCc>cTc	p.P186L	ITPR1_ENST00000443694.2_Missense_Mutation_p.P186L|ITPR1_ENST00000544951.1_Missense_Mutation_p.P186L|ITPR1_ENST00000357086.4_Missense_Mutation_p.P186L|ITPR1_ENST00000302640.8_Missense_Mutation_p.P186L|ITPR1_ENST00000423119.2_Missense_Mutation_p.P186L|ITPR1_ENST00000456211.2_Missense_Mutation_p.P186L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	186	MIR 2.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTTCTGAACCCCGTCAATGCT	0.502000													3	10					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120270644	120270644	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:120270644G>A	ENST00000392521.2	-	7	739	c.684C>T	c.(682-684)ctC>ctT	p.L228L	CIT_ENST00000261833.7_Silent_p.L228L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	228	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCGGTCAACGAGAATGTTCT	0.418000													54	69					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75704305	75704305	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75704305G>A	ENST00000370855.5	-	10	662	c.549C>T	c.(547-549)ttC>ttT	p.F183F	SLC44A5_ENST00000370859.3_Silent_p.F183F|SLC44A5_ENST00000535611.1_Silent_p.F53F	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	183						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGAAGTCAGGGAAACATCTCT	0.333000													13	37					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631980	32631980	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:32631980G>A	ENST00000242310.4	-	1	3687	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1200					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCTCACAGCGAACATACTCT	0.428000													50	77					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174851	106174851	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:106174851C>T	ENST00000390547.2	-	0	151																											TGGGAAGTTTCTGGCGGTCAC	0.652000													18	30					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984695	85984695	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:85984695G>A	ENST00000372113.4	-	2	291	c.286C>T	c.(286-288)Cta>Tta	p.L96L	LRIT2_ENST00000538192.1_Silent_p.L96L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	96						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGGGCTCCTAGGTGGATCACA	0.507000													45	64					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526224	189526224	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:189526224C>T	ENST00000264731.3	+	4	577	c.488C>T	c.(487-489)cCc>cTc	p.P163L	TP63_ENST00000382063.4_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.P163L|TP63_ENST00000392460.3_Missense_Mutation_p.P163L|TP63_ENST00000456148.1_Missense_Mutation_p.P69L|TP63_ENST00000392463.2_Missense_Mutation_p.P69L|TP63_ENST00000437221.1_Missense_Mutation_p.P69L|TP63_ENST00000392461.3_Missense_Mutation_p.P69L|TP63_ENST00000440651.2_Missense_Mutation_p.P163L|TP63_ENST00000354600.5_Missense_Mutation_p.P69L|TP63_ENST00000418709.2_Missense_Mutation_p.P163L|TP63_ENST00000449992.1_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	163					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTCCATCACCCGCCATCCCC	0.632000										HNSCC(45;0.13)			24	39					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				76	46					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158233857	158233857	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:158233857G>A	ENST00000296526.7	+	4	821	c.496G>A	c.(496-498)Gat>Aat	p.D166N	GRIA2_ENST00000393815.2_Missense_Mutation_p.D119N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D119N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D166N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D119N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	166					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGCTGTGCTGGATTCTGCTGC	0.383000													16	32					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902874	16902874	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:16902874G>A	ENST00000430580.2	-	19	2894	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	NBPF1_ENST00000432949.1_Silent_p.L127L|NBPF1_ENST00000287968.8_Silent_p.L34L	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	669						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGAGGGCCTGGAGATGCTGAT	0.547000													35	607					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93180777	93180777	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:93180777A>G	ENST00000393218.2	-	7	761	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L	LGMN_ENST00000334869.4_Missense_Mutation_p.F142L|LGMN_ENST00000557434.1_Missense_Mutation_p.F142L|LGMN_ENST00000555699.1_Missense_Mutation_p.F142L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	142					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)		AAGTAAATGAACACGTGATCC	0.398000											OREG0022880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	29					0	0	1	0	0
TOMM22	56993	broad.mit.edu	37	22	39078419	39078419	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:39078419C>T	ENST00000216034.4	+	2	240	c.209C>T	c.(208-210)tCc>tTc	p.S70F		NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	70					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					TTTGATCTTTCCCTCTTTGTG	0.567000													30	100					0	0	1	0	0
TRAV34	28648	broad.mit.edu	37	14	22675745	22675745	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:22675745C>T	ENST00000390461.2	+	0	69																											GAACAGGGGTCAGTAGCCAAG	0.438000													5	5					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166098	193166098	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:193166098C>T	ENST00000342695.4	-	18	2371	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L	ATP13A4_ENST00000392443.3_Silent_p.L664L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	683					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAGAAATATCAGGTCTGATT	0.408000													27	42					0	0	1	0	0
BEX5	340542	broad.mit.edu	37	X	101408958	101408958	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:101408958G>A	ENST00000543160.1	-	3	581	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	BEX5_ENST00000333643.3_Missense_Mutation_p.L94F	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	94						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCCCCTATAAGAATGCGCAGA	0.423000													32	17					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815108	106815108	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:106815108C>T	ENST00000407775.2	+	8	3048	c.2798C>T	c.(2797-2799)tCa>tTa	p.S933L	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S801L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S664L|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S801L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	933					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AACTTATTTTCATCCCACCTA	0.423000													16	7					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112991476	112991476	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:112991476C>T	ENST00000495514.1	+	7	1591	c.887C>T	c.(886-888)aCc>aTc	p.T296I	BOC_ENST00000273395.4_Missense_Mutation_p.T296I|BOC_ENST00000355385.3_Missense_Mutation_p.T296I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	296	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GACTCAGGCACCTACCGCTGC	0.607000													29	30					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433306	140433306	+	Missense_Mutation	SNP	C	C	T	rs143394864	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140433306C>T	ENST00000306549.3	+	1	2328	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		751					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCCTTATCTCGGCCTTGTCC	0.408000													23	40					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76676406	76676406	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:76676406G>A	ENST00000589297.1	-	13	1499	c.807C>T	c.(805-807)atC>atT	p.I269I	CYTH1_ENST00000585509.1_Silent_p.I269I|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000361101.4_Silent_p.I328I|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Silent_p.I328I|CYTH1_ENST00000591455.1_Silent_p.I327I			Q15438	CYH1_HUMAN	cytohesin 1	328	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TATTGTCGGGGATATAAAGCT	0.498000													15	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569389	179569389	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179569389C>T	ENST00000589042.1	-	105	30034	c.29810G>A	c.(29809-29811)gGa>gAa	p.G9937E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9620E|TTN_ENST00000342992.6_Missense_Mutation_p.G8693E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9620	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTCAGTTCCTTTGTACCA	0.343000													3	8					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9043442	9043442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9043442C>T	ENST00000397910.4	-	6	36290	c.36087G>A	c.(36085-36087)tgG>tgA	p.W12029*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12031	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						TGGTGGAGATCCAGGACCGAT	0.522000													4	5					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209163498	209163498	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:209163498C>T	ENST00000264380.4	+	8	1203	c.1045C>T	c.(1045-1047)Ctt>Ttt	p.L349F	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.L252F|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.L263F|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.L349F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	349					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACGCAAAATTCTTCTGGTACT	0.423000													16	30					0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118074365	118074365	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:118074365G>A	ENST00000292067.7	-	5	961	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	AMICA1_ENST00000356289.5_Missense_Mutation_p.R184C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R145C|AMICA1_ENST00000533261.1_Missense_Mutation_p.R173C	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	184	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.R174G(1)|p.R174C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTAGTAACGAAATACAATC	0.502000													21	52					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58946343	58946343	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:58946343G>A	ENST00000254166.3	-	3	868	c.468C>T	c.(466-468)aaC>aaT	p.N156N		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	156						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTGGTGAAGGTTTGCATTCA	0.498000													21	51					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7011475	7011475	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:7011475T>A	ENST00000389658.3	-	25	3604	c.3511A>T	c.(3511-3513)Acg>Tcg	p.T1171S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1171	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCCCAGCGTTACCTAAACC	0.502000													3	3					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934819	113934819	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:113934819G>A	ENST00000335953.4	+	2	1177	c.797G>A	c.(796-798)gGa>gAa	p.G266E	ZBTB16_ENST00000392996.2_Missense_Mutation_p.G266E	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	266					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCATCTCAGGAGGGATGGGG	0.637000													7	17					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38141900	38141900	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38141900G>A	ENST00000308059.6	+	19	2869	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E950K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E950K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	950					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCTGGAGGTGGAAAATGGTGC	0.502000													24	56					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785830	140785830	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:140785830G>A	ENST00000370515.3	-	2	419	c.86C>T	c.(85-87)tCg>tTg	p.S29L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											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)					GTACCCACTCGAGGTCTCCGG	0.478000													31	77					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234637795	234637795	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:234637795C>T	ENST00000482026.1	+	1	42	c.23C>T	c.(22-24)cCc>cTc	p.P8L	UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTCCAGGTTCCCCTGCCGTGG	0.577000											OREG0003835	type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	49					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130893	45130893	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:45130893G>A	ENST00000457685.2	-	6	2294	c.971C>T	c.(970-972)tCg>tTg	p.S324L	ZNF334_ENST00000593880.1_Missense_Mutation_p.S385L|ZNF334_ENST00000347606.4_Missense_Mutation_p.S362L			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AACAAGATACGATTTCTTGCT	0.453000													61	110					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718657	117718657	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:117718657A>G	ENST00000317775.6	-	8	2082	c.1397T>C	c.(1396-1398)aTa>aCa	p.I466T	NOS1_ENST00000338101.4_Missense_Mutation_p.I466T|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	466					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)	CTGGGGGAATATGGTGATGGC	0.622000													14	40					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927690	95927690	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:95927690G>A	ENST00000258499.3	-	2	631	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	USP44_ENST00000537435.2_Missense_Mutation_p.R115C|USP44_ENST00000393091.2_Missense_Mutation_p.R115C|USP44_ENST00000552440.1_Missense_Mutation_p.R115C	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	115					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCCCACTACGAGTTGTGCAG	0.398000													19	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437307	179437307	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179437307C>T	ENST00000589042.1	-	326	73776	c.73552G>A	c.(73552-73554)Gat>Aat	p.D24518N	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15453N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D22877N|TTN_ENST00000342992.6_Missense_Mutation_p.D21950N|TTN_ENST00000342175.6_Missense_Mutation_p.D15645N|TTN_ENST00000359218.5_Missense_Mutation_p.D15578N|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22877	Fibronectin type-III 78.						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)			CCTGGTGTATCGAGAACTCTA	0.418000													23	32					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57925811	57925811	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:57925811G>A	ENST00000574161.1	+	8	924	c.804_splice	c.e8-1	p.E269_splice	POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Splice_Site_p.E238_splice|GCOM1_ENST00000380560.2_Splice_Site_p.E200_splice|MYZAP_ENST00000267853.5_Splice_Site_p.E269_splice|GCOM1_ENST00000380568.3_Splice_Site_p.E269_splice|GCOM1_ENST00000396180.1_Splice_Site_p.E238_splice|MYZAP_ENST00000380565.4_Splice_Site_p.E269_splice|GCOM1_ENST00000380569.2_Splice_Site_p.E269_splice|GCOM1_ENST00000572390.1_Splice_Site_p.E269_splice|GCOM1_ENST00000587652.1_Splice_Site_p.E269_splice	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		269					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TCTTTTGCAGGAAGAAACCAA	0.463000													19	48					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93073020	93073020	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:93073020T>C	ENST00000359558.2	-	11	1099	c.800A>G	c.(799-801)aAc>aGc	p.N267S	CALCR_ENST00000426151.1_Missense_Mutation_p.N233S|CALCR_ENST00000421592.1_Missense_Mutation_p.N249S|CALCR_ENST00000394441.1_Missense_Mutation_p.N233S|CALCR_ENST00000360249.4_Missense_Mutation_p.N249S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	249					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CCAGAAATAGTTGCAGGCCAT	0.443000													35	49					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926718	157926718	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:157926718G>A	ENST00000389413.3	-	9	1310	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L	PTPRN2_ENST00000389418.4_Silent_p.L403L|PTPRN2_ENST00000389416.4_Silent_p.L386L|PTPRN2_ENST00000409483.1_Silent_p.L365L|PTPRN2_ENST00000404321.2_Silent_p.L426L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	403						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGTCCTGCAGGAGGCCCCCG	0.587000													48	33					0	0	1	0	0
TM4SF4	7104	broad.mit.edu	37	3	149216612	149216612	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:149216612A>G	ENST00000305354.4	+	4	1409	c.505A>G	c.(505-507)Atc>Gtc	p.I169V		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	169						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CGTAGGAGGAATCCAGATGGT	0.552000													21	47					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113637798	113637798	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:113637798T>A	ENST00000374431.3	-	5	1381	c.998A>T	c.(997-999)aAc>aTc	p.N333I	LPAR1_ENST00000358883.4_Missense_Mutation_p.N333I|LPAR1_ENST00000541779.1_Missense_Mutation_p.N334I|LPAR1_ENST00000538760.1_Missense_Mutation_p.N334I|LPAR1_ENST00000374430.2_Missense_Mutation_p.N333I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	333					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCCGGTGGGGTTCTCACTGCG	0.552000													16	58					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316128	125316128	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:125316128C>T	ENST00000373688.2	+	1	738	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCACTGTTCCCCTCCTGCTG	0.502000													50	117					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72046288	72046288	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:72046288C>T	ENST00000265381.4	-	13	2691	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	823					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCCTGTACATCGCGGCTGGCA	0.602000													29	70					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115812134	115812134	+	Missense_Mutation	SNP	G	G	A	rs142182003		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:115812134G>A	ENST00000374227.3	-	2	178	c.151C>T	c.(151-153)Cct>Tct	p.P51S	ZFP37_ENST00000553380.1_Missense_Mutation_p.P66S|ZFP37_ENST00000555206.1_Missense_Mutation_p.P52S			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	51	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTCTGAGCAGGATCCAGTTGC	0.413000													27	46					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235009	100235009	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100235009G>A	ENST00000305046.8	-	6	864	c.797C>T	c.(796-798)tCg>tTg	p.S266L	ADH1B_ENST00000394887.3_Missense_Mutation_p.S226L			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	266					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.S266L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000													61	118					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669617	234669617	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:234669617C>T	ENST00000360418.3	+	1	684	c.684C>T	c.(682-684)tcC>tcT	p.S228S	UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000305208.5_Silent_p.S228S|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron			P22309	UD11_HUMAN		228					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGGTTTATTCCCCGTATGCAA	0.493000													42	98					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111431705	111431705	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:111431705T>A	ENST00000535254.1	-	2	190	c.123A>T	c.(121-123)aaA>aaT	p.K41N	BUB1_ENST00000409311.1_Missense_Mutation_p.K61N|BUB1_ENST00000302759.6_Missense_Mutation_p.K61N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	61	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CATTGTGGTATTTCTTCTTAT	0.264000													11	19					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934958	28934958	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28934958G>A	ENST00000257192.4	+	15	3011	c.2799G>A	c.(2797-2799)atG>atA	p.M933I	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.M292I|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	933					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTTCCGGCATGATAGGTAGTC	0.478000													184	137					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31644754	31644754	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:31644754C>T	ENST00000333611.4	+	1	367	c.53_splice	c.e1+1	p.R18_splice	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Intron|LIMK2_ENST00000340552.4_Splice_Site_p.R18_splice|LIMK2_ENST00000331728.4_Intron	NM_016733.2	NP_057952.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	39	LIM zinc-binding 1.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGACCTGTTTCGGTGAGTTGG	0.542000													57	147					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7714948	7714948	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:7714948G>A	ENST00000340209.4	+	10	1220	c.923G>A	c.(922-924)gGa>gAa	p.G308E	RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G303E|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G260E|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G346E|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G346E|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G276E|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G303E|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G320E			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	303					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TACCAGGATGGATTTTATGGT	0.443000													66	136					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	799338	799338	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:799338G>T	ENST00000347755.5	-	16	2843	c.2702C>A	c.(2701-2703)gCt>gAt	p.A901D	PIDD_ENST00000411829.2_Missense_Mutation_p.A884D	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	901					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GGGCTGTGGAGCCGAGGAGCC	0.667000													3	25					1	1	1	1	0
ENPP4	22875	broad.mit.edu	37	6	46107842	46107842	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:46107842G>A	ENST00000321037.4	+	2	752	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAAACAATTCGAACCCACCAG	0.388000													31	133					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475250	17475250	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:17475250G>A	ENST00000377873.3	-	8	1506	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	BFSP1_ENST00000377868.2_Silent_p.I364I|BFSP1_ENST00000544874.1_Silent_p.I350I|BFSP1_ENST00000536626.1_Silent_p.I350I	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	489	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTTTAGCTGTGATGGAGGAGA	0.557000													16	30					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11384921	11384921	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:11384921G>A	ENST00000304623.8	-	7	1222	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.P345S|CTNND2_ENST00000511377.1_Missense_Mutation_p.P254S|CTNND2_ENST00000458100.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	345					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGTGGATGGGCGAGGAGGAG	0.677000													6	12					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167823649	167823649	+	Silent	SNP	G	G	A	rs143102400	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:167823649G>A	ENST00000367848.1	-	18	2471	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	ADCY10_ENST00000367851.4_Silent_p.L750L|ADCY10_ENST00000545172.1_Silent_p.L597L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	750					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTTGGAAAACGAGTACCTCAT	0.443000													36	59					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694037	84694037	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:84694037G>A	ENST00000286744.5	+	27	4729	c.4505G>A	c.(4504-4506)gGa>gAa	p.G1502E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1502E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1502	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCGGTGAAGGATACCACAGT	0.517000													22	36					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227464	75227464	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:75227464G>A	ENST00000342232.4	-	2	811	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	257	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGCCAAAGCTGATCGTGGAGT	0.562000													63	14					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906435	164906435	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:164906435G>A	ENST00000475390.1	-	2	2627	c.2184C>T	c.(2182-2184)tcC>tcT	p.S728S	SLITRK3_ENST00000241274.3_Silent_p.S728S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	728						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTCTGGAGAGGAAAGAGTTG	0.572000										HNSCC(40;0.11)			14	26					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103124	168103124	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:168103124G>A	ENST00000409195.1	+	9	5311	c.5222G>A	c.(5221-5223)gGa>gAa	p.G1741E	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1519E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1741E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1566					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGAGAGAGGAAATGTTCAG	0.368000													16	28					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21200013	21200013	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:21200013C>T	ENST00000381541.3	+	8	1062	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.L333F|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.L286F																							GAAAAGCATCCTTACCAATCC	0.274000													4	24					0	0	1	0	0
GALE	2582	broad.mit.edu	37	1	24122730	24122730	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:24122730C>T	ENST00000374497.3	-	11	990	c.899G>A	c.(898-900)cGg>cAg	p.R300Q		NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	300					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ATCACCTTCCCGCCGTGCCAC	0.622000													21	43					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299667	31299667	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:31299667G>A	ENST00000265071.2	+	5	1005	c.740G>A	c.(739-741)gGa>gAa	p.G247E	CDH6_ENST00000514738.1_Missense_Mutation_p.G192E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	247	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATGGGAGGATTATCTGGG	0.478000													34	68					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038120	62038120	+	Silent	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:62038120G>C	ENST00000354587.3	-	17	2696	c.2520C>G	c.(2518-2520)ccC>ccG	p.P840P	KCNQ2_ENST00000344462.3_Silent_p.P828P|KCNQ2_ENST00000360480.3_Silent_p.P804P|KCNQ2_ENST00000370224.1_Silent_p.P840P|KCNQ2_ENST00000430658.1_Silent_p.P801P|KCNQ2_ENST00000359689.1_Silent_p.P832P|KCNQ2_ENST00000357249.2_Silent_p.P814P|KCNQ2_ENST00000370226.1_Silent_p.P802P|KCNQ2_ENST00000359125.2_Silent_p.P832P			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	832					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGCAATGTAGGGCCTGACTT	0.652000													8	20					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36277934	36277934	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:36277934G>A	ENST00000007510.4	+	20	2706	c.2562G>A	c.(2560-2562)caG>caA	p.Q854Q	ARHGAP33_ENST00000378944.5_Silent_p.Q718Q|ARHGAP33_ENST00000314737.5_Silent_p.Q693Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	854					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCTGCCAGCAGGAGATGTGCA	0.701000													4	5					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850786	13850786	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13850786C>T	ENST00000265104.4	-	31	5193	c.5089G>A	c.(5089-5091)Gaa>Aaa	p.E1697K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1697	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGCATATTTCCAACTGGTCC	0.493000									Kartagener syndrome				11	27					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866196	139866196	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:139866196C>T	ENST00000370532.2	-	1	527	c.336G>A	c.(334-336)ttG>ttA	p.L112L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	112	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CTATAGCTTCCAAAAAATCCG	0.448000													29	12					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22033807	22033807	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:22033807C>T	ENST00000306385.5	+	3	1084	c.414C>T	c.(412-414)gtC>gtT	p.V138V	BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000397816.3_Silent_p.V138V|BMP1_ENST00000354870.5_Silent_p.V138V|BMP1_ENST00000397814.3_Silent_p.V138V|BMP1_ENST00000306349.8_Silent_p.V138V	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	138	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCCCTTTGTCATTGGGGGAA	0.647000													13	11					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049535	11049535	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:11049535G>A	ENST00000470054.1	-	0	573									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACATTCCATGATAGTGCTGA	0.453000													6	67					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003913	34003913	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:34003913G>A	ENST00000374181.3	-	8	2143	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	GRM4_ENST00000535756.1_Silent_p.F525F|GRM4_ENST00000455714.2_Silent_p.F518F|GRM4_ENST00000544773.1_Silent_p.F489F|GRM4_ENST00000545715.1_Silent_p.F350F|GRM4_ENST00000374177.3_Silent_p.F542F|GRM4_ENST00000538487.1_Silent_p.F658F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	658					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTAGTCCCAGGAAGATTCGGC	0.607000													17	93					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91714867	91714867	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:91714867C>T	ENST00000359028.2	+	36	9128	c.8903C>T	c.(8902-8904)cCc>cTc	p.P2968L	AKAP9_ENST00000358100.2_Missense_Mutation_p.P2914L|AKAP9_ENST00000356239.3_Missense_Mutation_p.P2964L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2968					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTGAGTCTCCCTATAGTGAT	0.418000			T	BRAF	papillary thyroid								14	34					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604820	90604820	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:90604820C>T	ENST00000369352.1	+	1	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	211					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AGACAATTTTCATGCTTTTTA	0.403000													61	53					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138421024	138421024	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:138421024G>A	ENST00000409968.1	+	26	4708	c.4530G>A	c.(4528-4530)atG>atA	p.M1510I	THSD7B_ENST00000413152.2_Missense_Mutation_p.M1482I|THSD7B_ENST00000272643.3_Missense_Mutation_p.M1513I					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)		ATTACTGCATGAAAGTACCAG	0.358000													3	7					0	0	1	0	0
TRAV34	28648	broad.mit.edu	37	14	22675459	22675459	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:22675459G>A	ENST00000390461.2	+	0	42																											TACTCCTAGGGATATTGGGGT	0.453000													28	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179574513	179574513	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179574513G>A	ENST00000589042.1	-	99	28757	c.28533C>T	c.(28531-28533)ttC>ttT	p.F9511F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.F9194F|TTN_ENST00000342992.6_Silent_p.F8267F|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9194							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)			CCTCAAGTTTGAAAGAATTCC	0.383000													30	49					0	0	1	0	0
UBXN8	7993	broad.mit.edu	37	8	30601792	30601792	+	RNA	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:30601792T>A	ENST00000519246.1	+	0	102							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						ATCCCGGATATAGGTAAGTGT	0.557000													9	6					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498906	216498906	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216498906C>T	ENST00000366943.2	-	6	1270	c.884G>A	c.(883-885)aGa>aAa	p.R295K	USH2A_ENST00000366942.3_Missense_Mutation_p.R295K|USH2A_ENST00000307340.3_Missense_Mutation_p.R295K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	295	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCATGCAATCTGAGAAGATC	0.512000										HNSCC(13;0.011)			18	27					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946973	144946973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:144946973C>T	ENST00000525985.1	-	2	520	c.449G>A	c.(448-450)tGg>tAg	p.W150*				P58107	EPIPL_HUMAN	epiplakin 1	150						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACCTCCAGCCAGCTCTGCCC	0.697000													25	5					0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54528095	54528095	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:54528095G>A	ENST00000373968.3	-	4	613	c.549C>T	c.(547-549)ttC>ttT	p.F183F	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	183	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGATGCCCAGGAAGGCTTCCT	0.512000													70	137					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467054	21467054	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:21467054C>T	ENST00000281523.2	-	6	1300	c.782G>A	c.(781-783)gGc>gAc	p.G261D		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	261						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTTGGAGGCCTGTGTTTCC	0.428000													30	48					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715062	55715062	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55715062C>T	ENST00000379668.2	+	1	717	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTTGAGAATTCCTTCTACTAG	0.378000													16	40					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249705	68249705	+	Silent	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:68249705T>A	ENST00000347230.4	-	21	4302	c.4164A>T	c.(4162-4164)gcA>gcT	p.A1388A	ZFYVE26_ENST00000555452.1_Silent_p.A1388A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1388					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAGATTCACTGCCAGACTCT	0.562000													17	36					0	0	1	0	0
C16orf54	283897	broad.mit.edu	37	16	29755631	29755631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:29755631C>T	ENST00000329410.3	-	2	737	c.642G>A	c.(640-642)tgG>tgA	p.W214*		NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	214						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CTTCACGCTTCCAGAAAGCTG	0.667000													7	13					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866396	39866396	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:39866396C>T	ENST00000314471.6	+	7	1809	c.774C>T	c.(772-774)gcC>gcT	p.A258A	SAMD4B_ENST00000598913.1_Silent_p.A258A|SAMD4B_ENST00000596368.1_Silent_p.A258A	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	258							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGCTTGGGGCCCGGGCTGCTT	0.652000													45	71					0	0	1	0	0
SAA1	6288	broad.mit.edu	37	11	18288502	18288502	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:18288502C>T	ENST00000405158.2	+	2	252	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA1_ENST00000532858.1_Missense_Mutation_p.S23L|SAA1_ENST00000356524.4_Missense_Mutation_p.S23L	NM_000331.4	NP_000322.2	P02735	SAA_HUMAN	serum amyloid A1	23					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTTCTTTTCGTTCCTTGGC	0.498000													15	26					0	0	1	0	0
MTCP1	4515	broad.mit.edu	37	X	154293955	154293955	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:154293955T>G	ENST00000369476.3	-	3	794	c.215A>C	c.(214-216)tAc>tCc	p.Y72S	MTCP1_ENST00000362018.2_Missense_Mutation_p.Y72S|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_5'UTR	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	72					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCCTCCGGGTAGAGTTGCCA	0.483000			T	TRA@	T cell prolymphocytic leukemia								46	16					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110459717	110459717	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:110459717C>T	ENST00000519681.1	+	18	1981	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	PAK3_ENST00000446737.1_Silent_p.F492F|PAK3_ENST00000425146.1_Silent_p.F492F|PAK3_ENST00000372010.1_Silent_p.F507F|PAK3_ENST00000262836.4_Silent_p.F507F|PAK3_ENST00000417227.1_Silent_p.F513F|PAK3_ENST00000360648.4_Silent_p.F528F|PAK3_ENST00000372007.4_Silent_p.F492F|PAK3_ENST00000518291.1_Silent_p.F528F			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	507	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAGCTGTATTCCGTGACTTTT	0.408000										TSP Lung(19;0.15)			36	12					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564386	36564386	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:36564386C>T	ENST00000397799.1	-	4	1120	c.896G>A	c.(895-897)gGg>gAg	p.G299E	COL8A2_ENST00000481785.1_Missense_Mutation_p.G234E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G299E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	299	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCTGGCTCCCCTTTGGCCCC	0.701000													3	13					0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890279	159890279	+	Silent	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:159890279T>A	ENST00000368097.4	-	2	331	c.21A>T	c.(19-21)gcA>gcT	p.A7A	TAGLN2_ENST00000368096.1_Silent_p.A28A|TAGLN2_ENST00000320307.4_Silent_p.A7A|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	7					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGGCCATATGCAGGTCCCC	0.587000													15	26					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6381376	6381376	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:6381376G>A	ENST00000262483.8	-	8	906	c.819C>T	c.(817-819)ttC>ttT	p.F273F	ACKR6_ENST00000421306.3_Silent_p.F237F	NM_031220.3	NP_112497.2																					AGATGGCATCGAAGGCCAGGA	0.672000													18	56					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001057	122001057	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:122001057C>T	ENST00000498619.1	+	6	2174	c.1736C>T	c.(1735-1737)cCt>cTt	p.P579L	CASR_ENST00000296154.5_Missense_Mutation_p.P569L|CASR_ENST00000490131.1_Missense_Mutation_p.P569L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	569					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTGGAGTGTCCTGATGGGGAG	0.597000													46	96					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39095333	39095333	+	Missense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:39095333C>A	ENST00000295373.6	-	2	341	c.215G>T	c.(214-216)cGc>cTc	p.R72L		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.458000													21	41					3.08376e-08	3.10737e-08	1	1	0
OR52L1	338751	broad.mit.edu	37	11	6007810	6007810	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:6007810G>A	ENST00000332249.4	-	1	405	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACATCTGGATCAGGCAGA	0.542000													5	15					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159533480	159533480	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:159533480C>T	ENST00000307765.5	+	8	897	c.646C>T	c.(646-648)Cca>Tca	p.P216S	RXFP1_ENST00000343542.5_Missense_Mutation_p.P216S|RXFP1_ENST00000460056.2_Missense_Mutation_p.P135S|RXFP1_ENST00000470033.1_Missense_Mutation_p.P183S|RXFP1_ENST00000448688.2_Missense_Mutation_p.P135S	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	216						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATTTCCCCACCAACATTTTA	0.284000													12	23					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20521064	20521064	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:20521064C>T	ENST00000504154.1	+	12	1370	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLIT2_ENST00000273739.5_Missense_Mutation_p.S377F|SLIT2_ENST00000503823.1_Missense_Mutation_p.S373F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S377F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	373					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTTTTCCTTACAGCTC	0.313000													9	32					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54218927	54218927	+	Missense_Mutation	SNP	A	A	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:54218927A>C	ENST00000401642.3	-	2	978	c.845T>G	c.(844-846)gTt>gGt	p.V282G	SCFD2_ENST00000388940.4_Missense_Mutation_p.V282G	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	282					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATGATGTCCAACTGCTCCTGT	0.393000													23	21					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601683	41601683	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:41601683G>A	ENST00000330436.3	+	9	1322	c.1322G>A	c.(1321-1323)gGa>gAa	p.G441E		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	441					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TACTGTTTTGGAGAAGGCCTG	0.562000													27	53					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795682	17795682	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:17795682G>A	ENST00000380607.4	+	9	1120	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	SH3GL2_ENST00000537391.1_Missense_Mutation_p.G287S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	334	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	p.G334C(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATGCTGCATGGCCATTCAGG	0.478000													11	29					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911876	158911876	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158911876C>T	ENST00000368140.1	+	5	934	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PYHIN1_ENST00000392254.2_Missense_Mutation_p.S230F|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S221F|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S221F	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	230	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAATATGAATCCTCAGAAAAT	0.383000													19	34					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590534	156590534	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:156590534C>T	ENST00000302938.4	-	2	837	c.742G>A	c.(742-744)Gct>Act	p.A248T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	248	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGAGAAGCCGCACTAGCC	0.582000													29	42					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930898	133930898	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:133930898G>A	ENST00000298622.4	+	2	591	c.453G>A	c.(451-453)aaG>aaA	p.K151K		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTGGAGAAGGTCAAGATGC	0.622000													21	41					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33988985	33988985	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33988985G>A	ENST00000373381.4	-	67	10607	c.10431C>T	c.(10429-10431)ctC>ctT	p.L3477L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3333						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTACACCTGGAGTAGGAGAT	0.388000													4	7					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175292569	175292569	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:175292569G>A	ENST00000367674.1	-	23	4709	c.4001C>T	c.(4000-4002)cCc>cTc	p.P1334L	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.P1334L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1334	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTCCACAAAGGGGATGGAGAA	0.552000													35	58					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005760	37005760	+	Silent	SNP	C	C	T	rs57678022	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:37005760C>T	ENST00000523638.1	-	3	1502	c.381G>A	c.(379-381)caG>caA	p.Q127Q	ZNF260_ENST00000588993.1_Silent_p.Q127Q|ZNF260_ENST00000593142.1_Silent_p.Q127Q|ZNF260_ENST00000592282.1_Silent_p.Q127Q	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	127					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TATGATTTTTCTGGTGTCTGA	0.393000													38	93					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792528	143792528	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:143792528G>A	ENST00000408949.2	+	1	388	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGCTATTACAGAGTGTCTGAT	0.423000													30	133					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955423	12955423	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:12955423C>T	ENST00000235347.4	-	2	335	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	86										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGTGTATCAAGTCCCCTC	0.607000													22	32					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062446	194062446	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:194062446G>A	ENST00000323830.3	-	2	1075	c.986C>T	c.(985-987)cCa>cTa	p.P329L	CPN2_ENST00000429275.1_Missense_Mutation_p.P329L	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	329					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GATGCCAGCTGGGAGGTGGGT	0.572000													18	31					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36123192	36123192	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:36123192C>T	ENST00000249044.2	+	3	1077	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	359					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGACCTGTTCCAGCTCCCGGG	0.587000													42	42					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720046	13720046	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:13720046G>A	ENST00000279593.3	-	12	2720	c.2511C>T	c.(2509-2511)atC>atT	p.I837I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	837					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGTTCGCAGATGAAGGTGA	0.507000													27	41					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967087	106967087	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:106967087T>C	ENST00000369066.3	+	2	1267	c.780T>C	c.(778-780)ttT>ttC	p.F260F		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	260							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACAATCCATTTAGCCAGCCAG	0.443000													18	13					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121712934	121712934	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:121712934G>A	ENST00000452319.1	+	5	631	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	GLI2_ENST00000361492.4_Missense_Mutation_p.G191R|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	191					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCGCCCTACGGGGACCTGCT	0.667000													11	18					0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3785639	3785639	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:3785639G>A	ENST00000381771.2	-	8	858	c.711C>T	c.(709-711)atC>atT	p.I237I	CAMKK1_ENST00000158166.5_Silent_p.I237I|CAMKK1_ENST00000348335.2_Intron|CAMKK1_ENST00000381769.2_Intron			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	228	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AATCTAACTGGATATTCTGGG	0.557000													35	64					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962063	73962063	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73962063G>A	ENST00000373468.1	-	3	2980	c.2329C>T	c.(2329-2331)Cat>Tat	p.H777Y	KIAA2022_ENST00000055682.5_Missense_Mutation_p.H777Y			Q5QGS0	K2022_HUMAN	KIAA2022	777					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGCCTCATGAAATTCAGAT	0.388000													34	19					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449932	138449932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:138449932G>A	ENST00000344876.4	-	2	2916	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	PCDH18_ENST00000510305.1_Nonsense_Mutation_p.Q55*|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.Q843*|PCDH18_ENST00000511115.1_Nonsense_Mutation_p.Q24*|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.Q623*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	844					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTCTTGGCTGATATTGCCCC	0.408000													48	63					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27283001	27283001	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:27283001G>A	ENST00000496902.4	+	1	838	c.352G>A	c.(352-354)Gat>Aat	p.D118N	EVX1_ENST00000222761.3_Missense_Mutation_p.D118N|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_5'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	118	Asp/Glu-rich (acidic).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CACCGAGTCGGATTTCTATGA	0.672000													4	20					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:97326937G>A	ENST00000328504.3	+	1	319	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000													14	31					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348096	180348096	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:180348096C>T	ENST00000410066.1	-	6	1176	c.573G>A	c.(571-573)acG>acA	p.T191T	ZNF385B_ENST00000336917.5_Silent_p.T89T|ZNF385B_ENST00000409692.1_Silent_p.T89T|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.T115T	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	191						nucleus	nucleic acid binding|zinc ion binding	p.T191T(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468000													16	48					0	0	1	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032474	142032474	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142032474C>T	ENST00000547918.2	+	0	327																											CTCTGAAGTTCCAGCGCACAC	0.557000													5	38					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044051	33044051	+	Missense_Mutation	SNP	C	C	A	rs138418942		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:33044051C>A	ENST00000286835.7	-	20	3487	c.3105G>T	c.(3103-3105)agG>agT	p.R1035S	SCAF4_ENST00000434667.3_Missense_Mutation_p.R1020S|SCAF4_ENST00000399804.1_Missense_Mutation_p.R1013S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1035						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CAGGGCTCCTCCTTCCCCACT	0.488000													19	41					7.21436e-19	7.31862e-19	1	1	0
APOB	338	broad.mit.edu	37	2	21233980	21233980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:21233980C>T	ENST00000233242.1	-	26	5887	c.5760G>A	c.(5758-5760)tgG>tgA	p.W1920*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1920					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.W1920C(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATGTTCTCCCCAGAGAGCGA	0.458000													62	127					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39286823	39286823	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:39286823G>A	ENST00000425054.2	-	2	299	c.300C>T	c.(298-300)ttC>ttT	p.F100F	KCNK16_ENST00000437525.2_Silent_p.F100F|KCNK16_ENST00000373227.4_Silent_p.F100F|KCNK16_ENST00000373229.5_Silent_p.F100F|KCNK16_ENST00000507712.1_Silent_p.F35F	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	100						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGCCTGCAAAGAAGAAACTGC	0.547000													10	75					0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810601	70810601	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:70810601C>T	ENST00000246891.4	+	15	485	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	CSN1S1_ENST00000507763.1_Missense_Mutation_p.P137S|CSN1S1_ENST00000505782.1_Missense_Mutation_p.P130S|CSN1S1_ENST00000444405.3_Missense_Mutation_p.P137S|CSN1S1_ENST00000507772.1_Missense_Mutation_p.P138S	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	146						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGCTGCCTACCCCTATGCTGT	0.408000													94	214					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35086443	35086443	+	Splice_Site	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:35086443C>G	ENST00000382002.5	-	4	497		c.e4-1		PRLR_ENST00000511486.1_Intron|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000348262.3_Splice_Site|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor						activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGTAACTGTCCTAGAAAAAGC	0.468000													18	53					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41694357	41694357	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:41694357G>A	ENST00000313860.7	+	26	3236	c.3182G>A	c.(3181-3183)cGa>cAa	p.R1061Q	LIMCH1_ENST00000514096.1_Missense_Mutation_p.R875Q|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R1047Q|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R894Q|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R1034Q|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R868Q|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R1035Q|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R958Q|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R880Q|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R875Q|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R888Q|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R1445Q	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1061	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTTAGGATTCGAAATGGTCTC	0.428000													26	47					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106121871	106121871	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:106121871G>A	ENST00000369704.3	+	3	516	c.382G>A	c.(382-384)Gtg>Atg	p.V128M	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	128										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAGGAAATAGTGAACCTGAC	0.468000													5	16					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73809191	73809191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:73809191G>A	ENST00000334126.7	-	16	3068	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.R948*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	948						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)					AAAAAGACTCGAAGACTCCCA	0.473000													22	47					0	0	1	0	0
C9orf37	85026	broad.mit.edu	37	9	140510306	140510306	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:140510306G>A	ENST00000371417.3	-	3	886	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	116										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		ACGTCTCCAAGGCCTGAAAGG	0.657000													13	25					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194925	29194925	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:29194925G>A	ENST00000240100.2	-	4	1192	c.803C>T	c.(802-804)gCc>gTc	p.A268V	DUSP4_ENST00000240101.2_Missense_Mutation_p.A177V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	268	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTCCTTCACGGCATCTGGGGA	0.662000													13	18					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25708206	25708206	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:25708206G>A	ENST00000520164.1	-	15	2137	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	EBF2_ENST00000408929.3_Missense_Mutation_p.P386S|EBF2_ENST00000535548.1_3'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	534	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGACAGCAGGAAAAACTGAA	0.507000													18	11					0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42807079	42807079	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:42807079G>A	ENST00000514985.1	-	3	591	c.335C>T	c.(334-336)cCt>cTt	p.P112L	SEPP1_ENST00000506577.1_Missense_Mutation_p.P112L|SEPP1_ENST00000511224.1_Missense_Mutation_p.P112L|SEPP1_ENST00000507920.1_Intron|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000509276.1_Intron	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	112			P -> S.		response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTGATAAACAGGAATATGCTC	0.308000													10	25					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261172	62261172	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:62261172C>T	ENST00000416284.3	-	2	1619	c.35G>A	c.(34-36)gGa>gAa	p.G12E	FAM19A2_ENST00000551449.1_Missense_Mutation_p.G12E|FAM19A2_ENST00000551619.1_Missense_Mutation_p.G12E	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	12						cytoplasm		p.G12E(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TAGCAGTTTTCCTTTTGTTGC	0.294000													27	48					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141735999	141735999	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:141735999G>A	ENST00000475668.2	+	17	2044	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	MGAM_ENST00000549489.2_Missense_Mutation_p.D664N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	664	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTTGCTTTGGACACCCCTGA	0.512000													13	25					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41763489	41763489	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:41763489G>A	ENST00000301178.4	+	19	2478	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	AXL_ENST00000593513.1_Missense_Mutation_p.R495H|AXL_ENST00000359092.3_Missense_Mutation_p.R754H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	763	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GACTATCTGCGCCAGGGAAAT	0.562000													52	93					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39203057	39203057	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:39203057C>T	ENST00000351578.6	-	2	196	c.6G>A	c.(4-6)gcG>gcA	p.A2A	FYB_ENST00000540520.1_Silent_p.A12A|FYB_ENST00000505428.1_Silent_p.A2A|FYB_ENST00000515010.1_Silent_p.A2A|FYB_ENST00000512982.1_Silent_p.A2A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	2					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433000													35	37					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321881	55321881	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55321881C>G	ENST00000314644.2	+	1	99	c.99C>G	c.(97-99)ttC>ttG	p.F33L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGCAAATTTTCCTTTGTCCTA	0.368000										HNSCC(20;0.049)			31	80					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980848	40980848	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:40980848C>T	ENST00000373198.3	-	10	1873	c.1638G>A	c.(1636-1638)cgG>cgA	p.R546R	PTPRT_ENST00000373187.1_Silent_p.R546R|PTPRT_ENST00000373201.1_Silent_p.R546R|PTPRT_ENST00000373193.3_Silent_p.R546R|PTPRT_ENST00000373184.1_Silent_p.R546R|PTPRT_ENST00000356100.2_Silent_p.R546R|PTPRT_ENST00000373190.1_Silent_p.R546R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	546	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTTTCATTCCGGAGCTTGA	0.562000													22	47					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124819002	124819002	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:124819002G>A	ENST00000356219.3	-	42	6749	c.6594C>T	c.(6592-6594)gcC>gcT	p.A2198A	NCOR2_ENST00000404621.1_Silent_p.A2181A|NCOR2_ENST00000429285.2_Silent_p.A2181A|NCOR2_ENST00000405201.1_Silent_p.A2191A|NCOR2_ENST00000404121.2_Silent_p.A1752A|NCOR2_ENST00000397355.1_Silent_p.A2182A	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2202					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)		GGGAGCCACGGGCCGGGGCAC	0.726000													11	6					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905399	15905399	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:15905399G>A	ENST00000308940.8	+	1	639	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTTCTGCCACGTGCCACCTCT	0.582000													24	51					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126329707	126329707	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:126329707C>T	ENST00000394329.3	+	4	5691	c.5678C>T	c.(5677-5679)cCt>cTt	p.P1893L	FAT4_ENST00000335110.5_Missense_Mutation_p.P191L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1893	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCTGAATCCTATTACTGGG	0.378000													24	60					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613161	48613161	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:48613161G>A	ENST00000328333.8	-	72	5984	c.5877C>T	c.(5875-5877)atC>atT	p.I1959I	COL7A1_ENST00000454817.1_Silent_p.I1927I	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1959	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGTCTCCACGATCTCCCGCA	0.682000													13	34					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440175	135440175	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:135440175G>A	ENST00000443774.1	-	1	121	c.72C>T	c.(70-72)ttC>ttT	p.F24F	FRG2B_ENST00000425520.1_Silent_p.F24F			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	24						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGATCTGTTGGAAAGGGGGCT	0.493000													15	147					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26101399	26101399	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:26101399G>A	ENST00000313735.6	-	12	1593	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	454					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CAGCCCCCACGGGACCGGTAT	0.557000													36	57					0	0	1	0	0
TMEM102	284114	broad.mit.edu	37	17	7340653	7340653	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7340653A>T	ENST00000323206.1	+	3	1628	c.1355A>T	c.(1354-1356)cAc>cTc	p.H452L	RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.H452L|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	452					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				ACGTTGCCTCACTATTTTCTG	0.706000													4	16					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70956752	70956752	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70956752C>T	ENST00000334414.6	-	16	4084	c.4040G>A	c.(4039-4041)aGa>aAa	p.R1347K	PTPRB_ENST00000551525.1_Missense_Mutation_p.R1346K|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1039K|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1039K|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1129K|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1259K|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1039K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1129	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AACTTGAGCTCTCTCCTGGAG	0.517000													17	32					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101924541	101924541	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:101924541C>T	ENST00000348070.1	-	11	1396	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	PCSK6_ENST00000331826.7_Missense_Mutation_p.G301D|PCSK6_ENST00000358417.3_Missense_Mutation_p.G466D|PCSK6_ENST00000398181.2_Missense_Mutation_p.G466D|PCSK6_ENST00000344273.2_Missense_Mutation_p.G466D|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	467					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGACCCGCGCCGTTCACTTT	0.572000													9	9					0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	57913682	57913682	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:57913682C>T	ENST00000282878.4	+	2	406	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	79					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AAAAGAGAATCAAGCTTCAGA	0.398000													9	8					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459573	56459573	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56459573C>T	ENST00000291971.3	+	1	376	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP8_ENST00000590542.1_Missense_Mutation_p.S102L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	102	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GATGTGACTTCGAACATCTTT	0.507000													20	42					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071640	53071640	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:53071640G>A	ENST00000276480.7	-	15	2307	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	542						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)				AGTCGATTAGGAAATTTCACT	0.438000													41	19					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74450975	74450975	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:74450975C>T	ENST00000307439.5	-	6	783	c.489G>A	c.(487-489)agG>agA	p.R163R	RASSF6_ENST00000395777.2_Silent_p.R163R|RASSF6_ENST00000335049.5_Silent_p.R151R|RASSF6_ENST00000342081.3_Silent_p.R195R	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	195			S -> P (in dbSNP:rs12507775).		apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGGCTTCATCCTTTTTCTCA	0.413000													25	38					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61034971	61034971	+	Missense_Mutation	SNP	G	G	A	rs144830880	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:61034971G>A	ENST00000335613.5	-	16	2314	c.1928C>T	c.(1927-1929)cCg>cTg	p.P643L	VWCE_ENST00000535710.1_Missense_Mutation_p.P108L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	643	VWFC 5.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGCACAGACGGGAAGGTCTC	0.592000													27	60					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508128	71508128	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:71508128C>T	ENST00000396073.3	+	9	1266	c.985C>T	c.(985-987)Cct>Tct	p.P329S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	329					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAAATTTTCCTTCAGGAAG	0.448000													26	64					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694454	49694454	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:49694454C>T	ENST00000296452.4	+	5	7579	c.7465C>T	c.(7465-7467)Ccc>Tcc	p.P2489S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2489					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGAGGGCCTCCCCTAGCGGC	0.642000													8	20					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66480342	66480342	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:66480342C>T	ENST00000256447.4	-	3	486	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	110					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CAGGGGATTTCCAGTTAACAC	0.368000													37	71					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13545678	13545678	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:13545678C>T	ENST00000295757.3	+	9	917	c.734C>T	c.(733-735)tCc>tTc	p.S245F	HDAC11_ENST00000522202.1_Missense_Mutation_p.S194F|HDAC11_ENST00000437379.2_Missense_Mutation_p.S217F|HDAC11_ENST00000433119.1_Missense_Mutation_p.P203S|HDAC11_ENST00000446613.2_Missense_Mutation_p.S53F|HDAC11_ENST00000405025.1_Missense_Mutation_p.P85S|HDAC11_ENST00000404548.1_Missense_Mutation_p.P113S|HDAC11_ENST00000404040.1_Missense_Mutation_p.S145F|HDAC11_ENST00000402259.1_Missense_Mutation_p.S79F|HDAC11_ENST00000402271.1_Missense_Mutation_p.S166F	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	245	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ATCAAGAAATCCCTCCAGGAG	0.602000													25	32					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627422	38627422	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:38627422G>A	ENST00000413689.1	-	16	2740	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	SCN5A_ENST00000423572.2_Silent_p.I849I|SCN5A_ENST00000455624.2_Silent_p.I849I|SCN5A_ENST00000451551.2_Silent_p.I849I|SCN5A_ENST00000333535.4_Silent_p.I849I|SCN5A_ENST00000450102.2_Silent_p.I849I|SCN5A_ENST00000443581.1_Silent_p.I849I|SCN5A_ENST00000449557.2_Silent_p.I849I|SCN5A_ENST00000425664.1_Silent_p.I849I|SCN5A_ENST00000414099.2_Silent_p.I849I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	849					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)	AGATGAACACGATGATGGCTA	0.567000													35	61					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	32011172	32011172	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:32011172C>T	ENST00000432498.1	+	28	3507	c.3114C>T	c.(3112-3114)ggC>ggT	p.G1038G	SFI1_ENST00000540643.1_Silent_p.G1014G|SFI1_ENST00000400288.2_Silent_p.G1069G|SFI1_ENST00000400289.1_Silent_p.G987G|SFI1_ENST00000414585.1_Silent_p.G916G|SFI1_ENST00000443011.1_Silent_p.G916G|SFI1_ENST00000443326.1_Silent_p.G987G|SFI1_ENST00000474741.1_3'UTR	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1069					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCGCCCCTGGCCCGAAGCAGC	0.721000													9	22					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51052998	51052998	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:51052998C>T	ENST00000442544.2	+	28	4739	c.4123C>T	c.(4123-4125)Cct>Tct	p.P1375S	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1008S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1375			P -> H (in a colorectal carcinoma).		apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCCACTCTTCCTAAGACCCA	0.458000													29	100					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926307	70926307	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70926307C>T	ENST00000603540.1	+	2	2349	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	ADAM21_ENST00000267499.3_Silent_p.F697F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	697					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTTTGACTTTCCTGTTTACTG	0.418000													19	27					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	14					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3701755	3701755	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:3701755C>T	ENST00000378251.1	-	3	1117	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	364					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CAGAGATCTTCGTGGAGCTTG	0.617000													27	60					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336611	126336611	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:126336611G>A	ENST00000394329.3	+	5	6506	c.6493G>A	c.(6493-6495)Gaa>Aaa	p.E2165K	FAT4_ENST00000335110.5_Missense_Mutation_p.E463K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2165	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGATTAATGAAAACACACT	0.388000													32	50					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169081470	169081470	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:169081470G>A	ENST00000256935.8	+	2	187	c.107G>A	c.(106-108)cGa>cAa	p.R36Q		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	36	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.R36Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGTGGTGCGAATACAGGAG	0.582000													19	36					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711356	42711356	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:42711356G>A	ENST00000230882.4	+	7	856	c.666G>A	c.(664-666)gtG>gtA	p.V222V	GHR_ENST00000537449.1_Silent_p.V35V|GHR_ENST00000357703.3_Silent_p.V200V	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	222	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.V222V(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CATTGAAAGTGGATAAGGAAT	0.408000													50	82					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37425309	37425309	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:37425309C>T	ENST00000397225.2	+	3	1563	c.648C>T	c.(646-648)ttC>ttT	p.F216F	MPST_ENST00000429360.2_Silent_p.F216F|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000397129.1_Silent_p.F236F|MPST_ENST00000404802.3_Silent_p.F216F|MPST_ENST00000401419.3_Silent_p.F216F|MPST_ENST00000341116.3_Silent_p.F216F			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	216	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TCACAGACTTCCTGAGCCAGG	0.572000													17	34					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053802	97053802	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:97053802G>A	ENST00000326771.2	+	5	739	c.359G>A	c.(358-360)gGa>gAa	p.G120E	FHL5_ENST00000541107.1_Missense_Mutation_p.G120E	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	120	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GAATTTAAGGGAAACTACTGG	0.373000													20	15					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113722539	113722539	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:113722539C>T	ENST00000550785.1	+	18	1801	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	TPCN1_ENST00000335509.6_Silent_p.S472S|TPCN1_ENST00000392569.4_Silent_p.S404S|TPCN1_ENST00000541517.1_Silent_p.S544S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	472						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ACTTCTTCTCCAAGCACGTGC	0.517000													32	55					0	0	1	0	0
CCDC109B	55013	broad.mit.edu	37	4	110606415	110606415	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:110606415T>C	ENST00000394650.4	+	7	958	c.825T>C	c.(823-825)acT>acC	p.T275T		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	275						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		AGGATTATACTTACTCAGCTG	0.358000													18	28					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23406278	23406278	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:23406278G>A	ENST00000216036.4	-	5	651	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	152							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TACCAGTGAGGAAATCAGACC	0.602000													18	61					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642979	1642979	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:1642979C>T	ENST00000399682.1	-	1	389	c.345G>A	c.(343-345)ggG>ggA	p.G115G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	115	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTTGGAACCCCCACAGGAGC	0.662000													26	67					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:30973992G>A	ENST00000295055.8	-	11	1389	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_ENST00000534090.2_Missense_Mutation_p.P405S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463000													7	21					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160388940	160388940	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160388940C>T	ENST00000368061.2	+	4	815	c.341C>T	c.(340-342)aCc>aTc	p.T114I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	114					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGGGGGCCACCCTGGCACTG	0.667000													27	47					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166667	59166667	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:59166667C>T	ENST00000262717.4	+	3	893	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CDH20_ENST00000538374.1_Silent_p.F165F|CDH20_ENST00000536675.2_Silent_p.F165F			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	165	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGCCCAAGTTCCTGGACGGAC	0.498000													28	47					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510503	71510503	+	Silent	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:71510503A>G	ENST00000396073.3	+	9	3641	c.3360A>G	c.(3358-3360)ccA>ccG	p.P1120P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1120					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACACAGTCCATTTGAATTCC	0.423000													27	48					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440531	124440531	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124440531C>T	ENST00000284287.3	+	1	639	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L189L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		GTGAGCACCTCATCAGTCACT	0.498000													30	48					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407305	148407305	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:148407305C>T	ENST00000538184.1	-	7	1519	c.631G>A	c.(631-633)Gga>Aga	p.G211R	SH3TC2_ENST00000512049.1_Missense_Mutation_p.G657R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.G549R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.G664R			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	664							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGGTGTCCAGAGAGGAGC	0.597000													23	38					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23217758	23217758	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:23217758G>A	ENST00000389131.3	-	3	745	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	126	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GTACAGTGGAGATTGTCTAAC	0.577000													10	9					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70966503	70966503	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:70966503C>T	ENST00000357250.6	-	21	1629	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	COL9A1_ENST00000320755.7_Missense_Mutation_p.E248K|COL9A1_ENST00000370499.4_Missense_Mutation_p.E248K|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	491	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGCCCAGGTTCACCATCTAAG	0.398000													8	9					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90190845	90190845	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:90190845C>G	ENST00000394412.3	-	6	1618	c.1542G>C	c.(1540-1542)atG>atC	p.M514I		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	514					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTACTGCTCCATGGCGTCCT	0.632000											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908894	158908894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158908894G>T	ENST00000368140.1	+	4	681	c.436G>T	c.(436-438)Gag>Tag	p.E146*	PYHIN1_ENST00000392254.2_Nonsense_Mutation_p.E146*|PYHIN1_ENST00000368138.3_Nonsense_Mutation_p.E137*|PYHIN1_ENST00000368135.4_Nonsense_Mutation_p.E146*|PYHIN1_ENST00000392252.3_Nonsense_Mutation_p.E137*	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	146					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ATCTGAAGAAGAGACTGGAAC	0.438000													12	21					7.03913e-09	7.09981e-09	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50946101	50946101	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:50946101G>A	ENST00000374103.4	-	19	2494	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	OGDHL_ENST00000432695.1_Silent_p.F594F|OGDHL_ENST00000419399.1_Silent_p.F746F|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	803					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						GGCTCACCTCGAAGTCCTTGG	0.612000													84	137					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177143536	177143536	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:177143536G>A	ENST00000296525.3	-	3	425	c.312C>T	c.(310-312)gtC>gtT	p.V104V	ASB5_ENST00000512254.1_Silent_p.V51V|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	104					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GCAATGGGGTGACATGGTCTA	0.388000													38	52					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89888625	89888625	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:89888625G>A	ENST00000435811.1	-	9	1707	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	GABRR1_ENST00000454853.2_Missense_Mutation_p.S435F|GABRR1_ENST00000369451.3_Missense_Mutation_p.S348F	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	435					gamma-aminobutyric acid signaling pathway|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			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CCTCTGTGGGGAGCTCCTCTC	0.512000													49	34					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345948	100345948	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100345948G>A	ENST00000542585.1	+	0	1252				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_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)			ATCCCCCAGAGGGTTTTCCTC	0.567000													23	46					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7473361	7473361	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7473361C>T	ENST00000399422.4	+	6	1010	c.962C>T	c.(961-963)cCc>cTc	p.P321L		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	321					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TGCAGTCCTCCCACTGTGTAC	0.468000													10	30					0	0	1	0	0
FIBP	9158	broad.mit.edu	37	11	65651878	65651878	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:65651878G>A	ENST00000338369.2	-	9	1122	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	FIBP_ENST00000533045.1_Silent_p.L322L|FIBP_ENST00000357519.4_Missense_Mutation_p.S330F	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	337					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GCCATCGAGGGAGTGGACAGA	0.617000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	24					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9297013	9297013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9297013C>T	ENST00000344248.2	+	1	735	c.556C>T	c.(556-558)Cag>Tag	p.Q186*		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	186					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTACATCCTCCAGCTGGCCTG	0.433000													64	132					0	0	1	0	0
YPEL5	51646	broad.mit.edu	37	2	30379532	30379532	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:30379532C>T	ENST00000379520.3	+	4	519	c.15C>T	c.(13-15)ttC>ttT	p.F5F	YPEL5_ENST00000402708.1_Silent_p.F5F|YPEL5_ENST00000402003.3_Silent_p.F5F|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000379519.3_Silent_p.F5F|YPEL5_ENST00000261353.4_Silent_p.F5F	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	5							peptide-methionine-(S)-S-oxide reductase activity	p.F5F(1)		NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					GCAGAATTTTCCTTGATCATA	0.418000													35	75					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135496364	135496364	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:135496364G>A	ENST00000394143.1	+	25	9374	c.9083G>A	c.(9082-9084)gGa>gAa	p.G3028E	GPR112_ENST00000412101.1_Missense_Mutation_p.G2823E|GPR112_ENST00000394141.1_Missense_Mutation_p.G2823E|GPR112_ENST00000370652.1_Missense_Mutation_p.G3028E|GPR112_ENST00000287534.4_Missense_Mutation_p.G2747E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3028					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAACAGGAGGGACTAAAGAAA	0.388000													40	14					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196866423	196866423	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:196866423G>A	ENST00000312428.6	-	11	1249	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	DNAH7_ENST00000410072.1_Silent_p.F383F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	383	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						TTAAGTCCGTGAAATCTTGCA	0.368000													28	59					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862225	5862225	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5862225C>T	ENST00000329322.5	-	1	902	c.903G>A	c.(901-903)agG>agA	p.R301R	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.R305R	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACTGTCTCCCTAATATGTT	0.433000													24	72					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877858	130877858	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:130877858C>T	ENST00000357462.5	-	1	324	c.231G>A	c.(229-231)aaG>aaA	p.K77K	POTEF_ENST00000360967.5_Silent_p.K77K|POTEF_ENST00000409914.2_Silent_p.K77K|POTEF_ENST00000361163.4_Silent_p.K77K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	77						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCACGTTGCTCTTGCCACTCC	0.597000													58	164					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466781	110466781	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:110466781G>A	ENST00000329608.6	+	6	1929	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	CSF1_ENST00000369802.3_Missense_Mutation_p.G513E|CSF1_ENST00000344188.5_Missense_Mutation_p.G397E|CSF1_ENST00000420111.2_Missense_Mutation_p.G215E|CSF1_ENST00000369801.1_Missense_Mutation_p.G397E	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	513					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGGCCGTCGGAGGCCTCTTG	0.642000													14	20					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245527	166245527	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:166245527C>T	ENST00000375437.2	+	27	5501	c.5211C>T	c.(5209-5211)caC>caT	p.H1737H	SCN2A_ENST00000375427.2_Silent_p.H1737H|SCN2A_ENST00000283256.6_Silent_p.H1737H|SCN2A_ENST00000357398.3_Silent_p.H1737H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1737					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACAAAGATCACCCTGGAAGCT	0.453000													88	119					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40976935	40976935	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:40976935G>A	ENST00000313164.9	+	16	2517	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	720	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AATGCCCTACGAATGTGGGTA	0.388000													6	6					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115394972	115394972	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:115394972G>A	ENST00000393780.3	+	3	719	c.251G>A	c.(250-252)aGg>aAg	p.R84K	GAP43_ENST00000305124.6_Missense_Mutation_p.R48K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	48					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CACATAACAAGGAAAAAGCTC	0.458000													14	34					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179604914	179604914	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:179604914C>T	ENST00000444136.1	+	9	1662	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TDRD5_ENST00000294848.8_Missense_Mutation_p.S471F|TDRD5_ENST00000367614.1_Missense_Mutation_p.S471F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	471					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GACACCAGTTCCCTCATAGGG	0.453000													24	39					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137785187	137785187	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:137785187G>A	ENST00000315930.6	-	3	1022	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	FGF13_ENST00000541469.1_Silent_p.L75L|FGF13_ENST00000441825.2_Silent_p.L102L|FGF13_ENST00000370603.3_Silent_p.L131L|FGF13_ENST00000305414.4_Silent_p.L68L	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	121					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCCAAGTACAGCTTGGTTTGA	0.393000													35	23					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50008401	50008401	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:50008401C>T	ENST00000451037.2	-	3	1168	c.228G>A	c.(226-228)atG>atA	p.M76I	CA10_ENST00000285273.4_Missense_Mutation_p.M76I|CA10_ENST00000570565.1_Start_Codon_SNP_p.M1I|CA10_ENST00000442502.2_Missense_Mutation_p.M76I|CA10_ENST00000340813.6_Missense_Mutation_p.M82I	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	76					brain development			p.M76I(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGTCGAAGATCATGTGACTGG	0.498000													71	147					0	0	1	0	0
GINS2	51659	broad.mit.edu	37	16	85712224	85712224	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:85712224C>T	ENST00000253462.3	-	4	454	c.354G>A	c.(352-354)aaG>aaA	p.K118K		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	118					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						CCCACATATCCTTGACCAGGG	0.542000													44	68					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467023	21467023	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:21467023G>A	ENST00000281523.2	-	6	1331	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	271						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCACATCACAGATTTCACAGT	0.433000													39	68					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599666	123599666	+	Silent	SNP	C	C	T	rs141795729		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:123599666C>T	ENST00000340011.5	+	5	1530	c.1173C>T	c.(1171-1173)aaC>aaT	p.N391N	SPAM1_ENST00000223028.7_Silent_p.N391N|SPAM1_ENST00000460182.1_Silent_p.N391N|SPAM1_ENST00000402183.2_Silent_p.N391N|SPAM1_ENST00000439500.1_Silent_p.N391N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	391					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TAAGGAAAAACTGGAATTCAA	0.413000													27	116					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3909578	3909578	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:3909578G>C	ENST00000450849.2	+	7	1209	c.742G>C	c.(742-744)Ggc>Cgc	p.G248R	ATCAY_ENST00000600960.1_Missense_Mutation_p.G248R|ATCAY_ENST00000398448.3_Missense_Mutation_p.G254R|ATCAY_ENST00000301260.6_Missense_Mutation_p.G248R	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	248	CRAL-TRIO.				transport		protein binding	p.G248C(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCTGGAATCGGCTGGCTGAA	0.592000													6	9					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48027120	48027120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:48027120C>T	ENST00000295461.5	+	2	148	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	28						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						AAACTCCTCCCAGGCTTGGTG	0.453000													41	61					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057364	9057364	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9057364G>A	ENST00000397910.4	-	3	30285	c.30082C>T	c.(30082-30084)Cct>Tct	p.P10028S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10030	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCGTGACAGGTAAGGACAAC	0.458000													8	17					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400693	89400693	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:89400693C>T	ENST00000439576.2	+	12	5251	c.4877C>T	c.(4876-4878)cCc>cTc	p.P1626L	ACAN_ENST00000561243.1_Missense_Mutation_p.P1626L|ACAN_ENST00000352105.7_Missense_Mutation_p.P1626L|ACAN_ENST00000559004.1_Missense_Mutation_p.P1626L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1626					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGTCTTCCCTCTGGATTT	0.522000													39	67					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178528653	178528653	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:178528653C>T	ENST00000286063.5	-	19	2904	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N	PDE11A_ENST00000449286.2_Missense_Mutation_p.D505N|PDE11A_ENST00000409504.1_Missense_Mutation_p.D505N|PDE11A_ENST00000450799.2_Missense_Mutation_p.D54N|PDE11A_ENST00000389683.3_Missense_Mutation_p.D419N|PDE11A_ENST00000358450.4_Missense_Mutation_p.D613N	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	863	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGCAGTTCATCCTTCCGGTTC	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial				14	39					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	148016583	148016583	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:148016583G>A	ENST00000520086.1	-	3	282	c.258C>T	c.(256-258)ttC>ttT	p.F86F	HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000314512.6_5'UTR|HTR4_ENST00000517929.1_5'UTR|HTR4_ENST00000354217.2_5'UTR|HTR4_ENST00000377888.3_5'UTR|HTR4_ENST00000362016.2_5'UTR|HTR4_ENST00000360693.3_5'UTR|HTR4_ENST00000521530.1_5'UTR			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					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)	TCCATTACAGGAAATAAGCAT	0.353000													22	46					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236975	33236975	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33236975C>T	ENST00000401073.2	+	6	2265	c.2195C>T	c.(2194-2196)tCc>tTc	p.S732F	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S684F|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S673F|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	673	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCCCACCTTCCCCACCCCCA	0.597000													15	20					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128105	117128105	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:117128105C>T	ENST00000310357.3	-	3	784	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	GPRC6A_ENST00000530250.1_Missense_Mutation_p.E255K|GPRC6A_ENST00000368549.3_Missense_Mutation_p.E255K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	255					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTCTGACTTCAATGGTATTA	0.373000													17	12					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518245	84518245	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:84518245G>A	ENST00000331369.5	+	0	439																											AGAAGGACATGAAGAAAGCCA	0.468000													18	36					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729315	35729315	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:35729315G>A	ENST00000187397.4	+	6	802	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	ARPP21_ENST00000444190.1_Missense_Mutation_p.E116K|ARPP21_ENST00000458225.1_Missense_Mutation_p.E116K|ARPP21_ENST00000417925.1_Missense_Mutation_p.E116K|ARPP21_ENST00000337271.5_Missense_Mutation_p.E116K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	116						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAGAGAAAAAGAAAAGGATAA	0.338000													25	54					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62415655	62415655	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:62415655G>A	ENST00000330574.2	-	2	1949	c.1897C>T	c.(1897-1899)Ccc>Tcc	p.P633S		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	633					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GAAGGAAAGGGACAAATGGCC	0.597000													11	25					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112144689	112144689	+	Silent	SNP	G	G	A	rs150855452		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:112144689G>A	ENST00000412145.1	-	19	4581	c.2028C>T	c.(2026-2028)gtC>gtT	p.V676V	PTPN3_ENST00000262539.3_Silent_p.V653V|PTPN3_ENST00000394827.3_Silent_p.V275V|PTPN3_ENST00000446349.1_Silent_p.V631V|PTPN3_ENST00000374541.2_Silent_p.V807V	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	807	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGCCATGCGACGTACTGGA	0.577000													25	60					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20762649	20762649	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:20762649C>T	ENST00000404938.2	+	21	3084	c.2432C>T	c.(2431-2433)tCc>tTc	p.S811F	ABCB5_ENST00000258738.6_Missense_Mutation_p.S366F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	366					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCAACAGGTTCCAGGATTGGC	0.353000													24	66					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575428	142575428	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142575428G>A	ENST00000359396.3	-	3	570	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	109					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GATGTCATGGGCTCAAAGACC	0.572000													30	144					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													3	35					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395567	124395567	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:124395567C>T	ENST00000338354.3	+	50	6328	c.6222C>T	c.(6220-6222)tcC>tcT	p.S2074S	DMBT1_ENST00000359586.6_Silent_p.S794S|DMBT1_ENST00000368955.3_Silent_p.S2064S|DMBT1_ENST00000344338.3_Silent_p.S2064S|DMBT1_ENST00000368909.3_Silent_p.S2074S|DMBT1_ENST00000330163.4_Silent_p.S1446S|DMBT1_ENST00000368956.2_Silent_p.S1446S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2074	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCGCAGTTCCCCTCTCATTG	0.502000													14	39					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160061526	160061526	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:160061526C>T	ENST00000327245.5	-	12	2062	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	406					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCTCTTCATCATACAGGTCA	0.493000													33	61					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100206089	100206089	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:100206089C>T	ENST00000547776.2	-	3	215	c.215_splice	c.e3-1	p.K72_splice	ANKS1B_ENST00000329257.7_Splice_Site_p.K72_splice|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	72						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAACTATGTCCCTAAAAAGGA	0.373000													18	25					0	0	1	0	0
NBL1	4681	broad.mit.edu	37	1	19981608	19981608	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:19981608C>T	ENST00000375136.3	+	2	388	c.85C>T	c.(85-87)Cca>Tca	p.P29S	MINOS1-NBL1_ENST00000602662.1_Missense_Mutation_p.P29S|NBL1_ENST00000548815.1_Missense_Mutation_p.P28S|NBL1_ENST00000289749.2_Missense_Mutation_p.P64S	NM_001204085.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	28						extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCACTGTTCCCAGATAAGAG	0.622000													9	14					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183018	102183018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:102183018G>A	ENST00000306176.1	+	7	832	c.732G>A	c.(730-732)tgG>tgA	p.W244*	ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.W228*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.W228*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	228	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTTTCAGATGGAATGTTTTAA	0.318000													28	57					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50484395	50484395	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:50484395C>T	ENST00000266182.6	-	5	397	c.398G>A	c.(397-399)gGg>gAg	p.G133E	TTLL8_ENST00000440475.1_Missense_Mutation_p.G133E					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CACGCACAGCCCGATCTCCAG	0.647000													4	9					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116609685	116609685	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:116609685G>A	ENST00000369503.4	+	12	1730	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	534	Poly-Glu.				ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGAGGAAGAGGAAGAATTTTA	0.428000													5	9					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294039	219294039	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:219294039A>G	ENST00000248444.5	+	7	687	c.599A>G	c.(598-600)cAg>cGg	p.Q200R	VIL1_ENST00000440053.1_Missense_Mutation_p.Q200R|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	200	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCGAGACCAGGAGCGGGGA	0.622000													38	62					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246224	56246224	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:56246224G>A	ENST00000361673.3	-	4	1997	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	595							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATCAGCATGGGAACTCCGACC	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	61					0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011101	40011101	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:40011101G>A	ENST00000315792.3	+	1	113	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	17					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		ACGTCGCTACGAGTCAGCCCA	0.517000													29	19					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38212210	38212210	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:38212210C>G	ENST00000323205.6	+	8	1131	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	GCAT_ENST00000248924.6_Missense_Mutation_p.F330L	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	330					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCCACAGGTTCCGTAGTAAGA	0.617000													15	25					0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539946	31539946	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:31539946C>T	ENST00000302312.4	+	3	346	c.243C>T	c.(241-243)ttC>ttT	p.F81F	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	81					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCAACCCTTTCCTGGCCAAGT	0.587000													10	26					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618055	618055	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:618055C>T	ENST00000358353.3	-	15	2339	c.2017G>A	c.(2017-2019)Ggg>Agg	p.G673R	CDHR5_ENST00000397542.2_Missense_Mutation_p.G673R|CDHR5_ENST00000349570.7_Missense_Mutation_p.G479R			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	673					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCCAGCACCCCGCCCAGGGCC	0.652000													4	21					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12649325	12649325	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12649325C>T	ENST00000425538.1	+	9	1261	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	MYOCD_ENST00000343344.4_Missense_Mutation_p.S354F|MYOCD_ENST00000395988.1_Missense_Mutation_p.S258F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	354					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)		AACAGTTTTTCTGGACAAACT	0.408000													37	78					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16437221	16437221	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:16437221G>A	ENST00000380672.4	-	6	1028	c.971C>T	c.(970-972)cCa>cTa	p.P324L	BNC2_ENST00000380666.2_Missense_Mutation_p.P324L|BNC2_ENST00000545497.1_Missense_Mutation_p.P229L|BNC2_ENST00000380667.2_Missense_Mutation_p.P257L	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTACTGGAATGGAAGCAGAAA	0.522000													83	157					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132207750	132207750	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:132207750C>T	ENST00000360971.2	+	24	2513	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	831	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAACTCACTTCTTTATTGTGC	0.348000													13	10					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914489	147914489	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:147914489G>A	ENST00000361727.3	+	19	3636	c.3120G>A	c.(3118-3120)caG>caA	p.Q1040Q	CNTNAP2_ENST00000538075.1_Silent_p.Q99Q	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1040					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGACCAGCAGAACTCCCACC	0.542000										HNSCC(39;0.1)			73	127					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465198	37465198	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:37465198G>A	ENST00000381792.2	-	16	2168	c.2028C>T	c.(2026-2028)cgC>cgT	p.R676R	TMPRSS6_ENST00000346753.3_Silent_p.R685R|TMPRSS6_ENST00000406725.1_Silent_p.R676R|TMPRSS6_ENST00000406856.1_Silent_p.R676R			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	685	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGCAGACGGGGCGCACGGCGG	0.726000													3	6					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599136	62599136	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:62599136G>A	ENST00000512091.1	+	7	1806	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	LPHN3_ENST00000504896.1_Silent_p.V353V|LPHN3_ENST00000511324.1_Silent_p.V421V|LPHN3_ENST00000514591.1_Silent_p.V353V|LPHN3_ENST00000545650.1_Silent_p.V353V|LPHN3_ENST00000514157.1_Silent_p.V353V|LPHN3_ENST00000509896.1_Silent_p.V421V|LPHN3_ENST00000506720.1_Silent_p.V421V|LPHN3_ENST00000508693.1_Silent_p.V421V|LPHN3_ENST00000507164.1_Silent_p.V421V|LPHN3_ENST00000507625.1_Silent_p.V421V|LPHN3_ENST00000514996.1_Silent_p.V353V|LPHN3_ENST00000506700.1_Silent_p.V353V|LPHN3_ENST00000508946.1_Silent_p.V353V|LPHN3_ENST00000506746.1_Silent_p.V421V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	353	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAGTTTGGTGGATGTACCCT	0.393000													17	19					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118215301	118215301	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:118215301G>A	ENST00000369230.3	+	5	670	c.524G>A	c.(523-525)gGg>gAg	p.G175E		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	175					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CACCTGGCTGGGGAAGCTGGG	0.423000													19	47					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603275	101603275	+	Splice_Site	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:101603275C>T	ENST00000536262.2	-	1	910		c.e1+1			NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8						apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGCCCCTTACCTCGTAGGTG	0.577000													3	2					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16908678	16908678	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:16908678C>T	ENST00000524140.2	+	16	3858	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	NWD1_ENST00000339803.6_Missense_Mutation_p.S1012F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1147F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1147F|NWD1_ENST00000523826.1_Missense_Mutation_p.S941F|NWD1_ENST00000552788.1_Missense_Mutation_p.S1147F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1147							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCACGGGGTCCCTTGATGCG	0.522000													72	141					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184942	130184942	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:130184942C>T	ENST00000422113.2	-	2	707	c.381G>A	c.(379-381)tgG>tgA	p.W127*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	127						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTTAGTTTCCAGTTAAGAG	0.522000													5	21					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439698	150439698	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150439698G>A	ENST00000358647.3	+	3	838	c.471G>A	c.(469-471)ggG>ggA	p.G157G	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGACTTAGGGGGCCAGGCCC	0.552000													36	161					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960802	73960802	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73960802C>T	ENST00000373468.1	-	3	4241	c.3590G>A	c.(3589-3591)aGg>aAg	p.R1197K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1197K			Q5QGS0	K2022_HUMAN	KIAA2022	1197					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGATTTTTTCCTGGTGTTTTT	0.428000													26	10					0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77805969	77805969	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:77805969C>T	ENST00000306735.5	+	7	984	c.846C>T	c.(844-846)gcC>gcT	p.A282A	RBFA_ENST00000262197.7_3'UTR|RBFADN_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	282					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GGAAGAGGGCCAAGCCCCGCC	0.587000													10	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597727	179597727	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179597727C>T	ENST00000589042.1	-	55	16400	c.16176G>A	c.(16174-16176)aaG>aaA	p.K5392K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.K5075K|TTN_ENST00000342992.6_Silent_p.K4148K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5075	Ig-like 34.						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)			CTTTGCCATCCTTAAACCAGG	0.478000													6	20					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120567141	120567141	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:120567141G>A	ENST00000300648.6	-	57	7841	c.7829C>T	c.(7828-7830)gCc>gTc	p.A2610V		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2610					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCGCTGTAGGCCCTGACCAC	0.587000													61	97					0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150727607	150727607	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:150727607G>A	ENST00000368985.3	-	4	529	c.269C>T	c.(268-270)tCt>tTt	p.S90F	CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	90					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCATCAAAGACATCACTTC	0.408000													51	118					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42931279	42931279	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:42931279A>T	ENST00000244289.4	-	1	299	c.23T>A	c.(22-24)gTg>gAg	p.V8E	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	8					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGACCTAGACACTGACTTAGA	0.532000													15	21					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774667	47774667	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:47774667C>T	ENST00000376954.1	+	6	990	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.H208Y			P51508	ZNF81_HUMAN	zinc finger protein 81	208						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CTTACATATTCATAATAAAAG	0.348000													23	6					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600165	137600165	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:137600165G>A	ENST00000274721.3	-	2	410	c.164C>T	c.(163-165)cCc>cTc	p.P55L	GFRA3_ENST00000378362.3_Missense_Mutation_p.P55L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	55					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTGCAGGTGGGATCAGCCTG	0.597000													18	28					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358358	10358358	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10358358C>T	ENST00000255381.2	-	21	2445	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	779	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCGCATTTCCTCTAGAGTT	0.418000													23	45					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539844	169539844	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:169539844C>T	ENST00000340806.6	+	1	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	45										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGGAGATCTTCACATTCACAG	0.398000													31	48					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430078	10430078	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:10430078G>A	ENST00000245503.5	-	30	4409	c.4025C>T	c.(4024-4026)tCc>tTc	p.S1342F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1342F|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1342					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTCGTGGCGGGAAGACTGCAG	0.522000													35	60					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077817	19077817	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:19077817G>A	ENST00000329773.2	-	2	220	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	45					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TTTCCTACCAGCCCGACCAGG	0.567000													54	63					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49197469	49197469	+	Missense_Mutation	SNP	C	C	T	rs143707827		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:49197469C>T	ENST00000340334.7	-	9	1284	c.916G>A	c.(916-918)Gga>Aga	p.G306R	FOLH1_ENST00000256999.2_Missense_Mutation_p.G321R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G321R|FOLH1_ENST00000343844.4_Missense_Mutation_p.G13R|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.G306R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	321	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.G321R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTGAGACTTCCTCTCCAGCTG	0.383000													24	45					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810601	123810601	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:123810601C>T	ENST00000307033.2	+	1	352	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTACCATTTCCTTTGGTGGA	0.468000													18	40					0	0	1	0	0
AL133373.1	0	broad.mit.edu	37	14	92040870	92040870	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:92040870G>A	ENST00000596306.1	-	1	513	c.87C>T	c.(85-87)ccC>ccT	p.P29P																								CTCCTTCTCCGGGAACGGCCC	0.597000													6	4					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9136628	9136628	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:9136628G>A	ENST00000382496.5	-	13	2252	c.1587C>T	c.(1585-1587)atC>atT	p.I529I		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	529					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GACACGCAGAGATGCTCTGTT	0.582000													17	26					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815934	95815934	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:95815934G>A	ENST00000295208.2	-	5	758	c.296C>T	c.(295-297)tCa>tTa	p.S99L	ZNF514_ENST00000411425.1_Missense_Mutation_p.S99L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TTTTTCCACTGATACTACCTG	0.393000													74	156					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4412714	4412714	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4412714G>A	ENST00000251166.4	-	15	1446	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	CORO7_ENST00000574025.1_Missense_Mutation_p.S349L|CORO7_ENST00000423908.2_Missense_Mutation_p.S266L|CORO7_ENST00000539968.1_Missense_Mutation_p.S214L|CORO7_ENST00000537233.2_Missense_Mutation_p.S416L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.S434L	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CGAGGTCAGCGAACTGGGAGG	0.667000													5	3					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152388	133152388	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:133152388G>A	ENST00000388996.4	-	11	1923	c.1503C>T	c.(1501-1503)ggC>ggT	p.G501G	KCNQ3_ENST00000519445.1_Silent_p.G501G|KCNQ3_ENST00000521134.1_Silent_p.G381G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	501					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CATTCCCATAGCCCCTGTCTT	0.622000													40	14					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16510269	16510269	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:16510269C>T	ENST00000502640.1	-	7	928	c.780G>A	c.(778-780)agG>agA	p.R260R	LDB2_ENST00000304523.5_Silent_p.R260R|LDB2_ENST00000503178.2_Silent_p.R136R|LDB2_ENST00000515064.1_Silent_p.R260R|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_Silent_p.R260R			O43679	LDB2_HUMAN	LIM domain binding 2	260							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGAATTTTTCCTTTTTCTCC	0.488000													14	32					0	0	1	0	0
C17orf49	124944	broad.mit.edu	37	17	6920628	6920628	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:6920628C>T	ENST00000546495.1	+	6	930	c.567C>T	c.(565-567)ctC>ctT	p.L189L	RNASEK-C17orf49_ENST00000607129.1_3'UTR|C17orf49_ENST00000547709.1_3'UTR|C17orf49_ENST00000552402.1_3'UTR|C17orf49_ENST00000546760.1_Silent_p.L154L|RNASEK-C17orf49_ENST00000606880.1_3'UTR|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000439424.2_3'UTR|C17orf49_ENST00000552775.1_Silent_p.L163L|RP11-589P10.7_ENST00000572547.1_RNA			Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	0					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						ATCCTCCTCTCCTCTCCTGCT	0.587000													27	68					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795604	17795604	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:17795604G>A	ENST00000380607.4	+	9	1042	c.922G>A	c.(922-924)Gag>Aag	p.E308K	SH3GL2_ENST00000537391.1_Missense_Mutation_p.E261K	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	308	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	p.E308K(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AAATGAAGGGGAGTTGGGATT	0.478000													11	28					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108499134	108499134	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:108499134A>G	ENST00000408999.3	+	22	5148	c.5071A>G	c.(5071-5073)Aaa>Gaa	p.K1691E	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1691E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1691					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCAGCTTCTCAAAAGTGAAAT	0.393000													19	30					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142736952	142736952	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:142736952C>T	ENST00000230173.6	+	20	3165	c.2689C>T	c.(2689-2691)Ccc>Tcc	p.P897S	GPR126_ENST00000367608.2_Missense_Mutation_p.P869S|GPR126_ENST00000296932.8_Missense_Mutation_p.P869S|GPR126_ENST00000367609.3_Missense_Mutation_p.P897S	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	897					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P868S(1)|p.P897S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAGGGATTATCCCTCCAAAAT	0.403000													24	15					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144101747	144101747	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:144101747G>A	ENST00000467773.1	-	2	111	c.112C>T	c.(112-114)Cct>Tct	p.P38S	NOBOX_ENST00000483238.1_Missense_Mutation_p.P38S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	38					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.P38S(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCACACACAGGAAATTCAGGT	0.517000													85	111					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496898	216496898	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216496898G>A	ENST00000366943.2	-	8	1854	c.1468C>T	c.(1468-1470)Cat>Tat	p.H490Y	USH2A_ENST00000366942.3_Missense_Mutation_p.H490Y|USH2A_ENST00000307340.3_Missense_Mutation_p.H490Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	490	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTGCCCATGAAAATGAAAC	0.393000										HNSCC(13;0.011)			44	86					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40415248	40415248	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:40415248G>A	ENST00000333407.5	+	2	660	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	189										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGTAAGCGCCGGGTCCCAGTG	0.532000													33	90					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46628055	46628055	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:46628055G>C	ENST00000396000.2	+	7	1343	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	PPARA_ENST00000402126.1_Missense_Mutation_p.D360H|PPARA_ENST00000407236.1_Missense_Mutation_p.D360H|PPARA_ENST00000262735.5_Missense_Mutation_p.D360H|PPARA_ENST00000434345.2_3'UTR			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	360	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	ACCCAAGTTTGATTTTGCCAT	0.423000													43	206					0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23724572	23724572	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:23724572C>T	ENST00000308268.6	+	2	241	c.152C>T	c.(151-153)tCt>tTt	p.S51F	PSMA8_ENST00000415576.2_Missense_Mutation_p.S51F|PSMA8_ENST00000343848.6_Intron	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	51					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GAAAAAAAATCTGTTGCCAAG	0.358000													35	61					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32313824	32313824	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:32313824C>T	ENST00000298386.2	+	1	146	c.75C>T	c.(73-75)atC>atT	p.I25I	RXFP2_ENST00000380314.1_Silent_p.I25I	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	25						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTCATTTCATCGTTCTGATCA	0.318000													17	42					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65234520	65234520	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:65234520G>A	ENST00000389722.3	-	29	6133	c.6080C>T	c.(6079-6081)gCc>gTc	p.A2027V	SPTB_ENST00000389721.5_Missense_Mutation_p.A2027V|SPTB_ENST00000556626.1_Missense_Mutation_p.A2027V|SPTB_ENST00000542895.1_Missense_Mutation_p.A2027V|SPTB_ENST00000389720.3_Missense_Mutation_p.A2027V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2027					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCTCCTGGGCAATCAGCCA	0.622000													22	36					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47559879	47559879	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:47559879G>A	ENST00000273859.3	+	12	2292	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	675					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTGGAGGAAGAGGTCTCCCA	0.527000													23	44					0	0	1	0	0
DDOST	1650	broad.mit.edu	37	1	20981986	20981986	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:20981986G>A	ENST00000375048.3	-	5	654	c.549C>T	c.(547-549)gcC>gcT	p.A183A	DDOST_ENST00000602624.2_Silent_p.A166A|DDOST_ENST00000415136.2_Silent_p.A146A	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	183					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGATGGTTGGGGCCTTCAGCA	0.532000													27	44					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4621703	4621703	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4621703G>A	ENST00000300747.5	-	7	1550	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	421	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCACCCGGCGAGGAGGGACC	0.537000													31	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179602908	179602908	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179602908C>T	ENST00000589042.1	-	49	14496	c.14272G>A	c.(14272-14274)Gaa>Aaa	p.E4758K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4395K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4441K|TTN_ENST00000342992.6_Missense_Mutation_p.E3514K|TTN_ENST00000342175.6_Missense_Mutation_p.E4587K|TTN_ENST00000359218.5_Missense_Mutation_p.E4520K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4441	Ig-like 28.						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)			CTCAGGATTTCAAGGCTGGAG	0.468000													19	18					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769382	88769382	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:88769382C>T	ENST00000444431.1	+	0	3982				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGCTGCGGGCCACCGCTGAT	0.627000													67	98					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263037	248263037	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:248263037C>T	ENST00000366478.2	+	3	697	c.360C>T	c.(358-360)gaC>gaT	p.D120D	OR2L13_ENST00000358120.2_Silent_p.D120D	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	120					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)			TGGCCTACGACCGTTATTTGG	0.502000													72	127					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078455	75078455	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:75078455G>A	ENST00000326665.5	-	9	1257	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	C1orf173_ENST00000420661.2_Missense_Mutation_p.P150S|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	347										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGACTGAAGGGGAAACCATGA	0.413000													8	23					0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37253237	37253237	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:37253237T>A	ENST00000591344.1	-	3	267	c.109A>T	c.(109-111)Atg>Ttg	p.M37L	ZNF850_ENST00000589390.1_Missense_Mutation_p.M37L	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TAGTTCTCCATCATTACATCT	0.458000													8	10					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544019	82544019	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82544019G>A	ENST00000423517.2	-	7	13620	c.13283C>T	c.(13282-13284)gCc>gTc	p.A4428V	PCLO_ENST00000437081.1_Missense_Mutation_p.A1148V|PCLO_ENST00000333891.8_Missense_Mutation_p.A4428V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4359	PDZ.				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						GTCTGACATGGCATGTTGGAA	0.438000													5	17					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868415	97868415	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:97868415C>T	ENST00000437310.1	+	1	246	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTACTTACTCCTTGGGAATT	0.403000													132	182					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101596393	101596393	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:101596393C>T	ENST00000311812.2	-	12	1266	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Silent_p.L273L	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	372					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCATCTTTTTCAAGCAGCTAC	0.393000													44	12					0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	101167781	101167781	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:101167781C>T	ENST00000376285.1	+	22	2038	c.2000C>T	c.(1999-2001)cCc>cTc	p.P667L	PCCA_ENST00000376286.4_Missense_Mutation_p.P641L|PCCA_ENST00000376279.3_Intron	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	667	Biotinyl-binding.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TCCCCGATGCCCGGAGTGGTG	0.522000											OREG0022490	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	61					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518641	129518641	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:129518641C>T	ENST00000276218.2	-	1	870	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	261						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGGTACCGTTCCAGCACTAGG	0.572000													41	17					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73049010	73049010	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:73049010G>A	ENST00000604411.1	+	0	36971				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TGAAGACTCAGCTCTCTGCAC	0.408000													13	6					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55282712	55282712	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:55282712G>A	ENST00000358193.3	+	9	1155	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	C1orf177_ENST00000371273.3_Silent_p.K367K	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	367										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGGAGACAAAGGACAGGCGGC	0.577000													13	29					0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79892281	79892281	+	Missense_Mutation	SNP	G	G	A	rs138398362		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:79892281G>A	ENST00000337943.5	-	6	1160	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	PYCR1_ENST00000329875.8_Missense_Mutation_p.H240Y|PYCR1_ENST00000403172.4_Missense_Mutation_p.H209Y|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.H267Y	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	240					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	TGCAAGGCATGGATGGTGGCC	0.652000													5	3					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364271	47364271	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:47364271G>A	ENST00000399249.2	-	16	1536	c.1482C>T	c.(1480-1482)acC>acT	p.T494T	MYBPC3_ENST00000545968.1_Silent_p.T494T|MYBPC3_ENST00000256993.4_Silent_p.T493T			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	493	Ig-like C2-type 3.		R -> G (in CMH4).|R -> Q (in CMH4).		cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCCTCCCGGGTCAGCTCCA	0.622000													43	70					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46309222	46309222	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:46309222G>A	ENST00000397850.2	-	14	2298	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	ITGB2_ENST00000302347.5_Missense_Mutation_p.P616S|ITGB2_ENST00000397857.1_Missense_Mutation_p.P616S|ITGB2_ENST00000397854.3_Missense_Mutation_p.P559S|ITGB2_ENST00000397852.1_Missense_Mutation_p.P616S|ITGB2_ENST00000355153.4_Missense_Mutation_p.P616S			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	616	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGCAGCCGGGGCACTCCTGG	0.682000													17	16					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179078330	179078330	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:179078330G>A	ENST00000502732.1	-	12	2275	c.2072C>T	c.(2071-2073)tCt>tTt	p.S691F	ABL2_ENST00000504405.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S670F|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.S676F|ABL2_ENST00000408940.3_Missense_Mutation_p.S655F|ABL2_ENST00000511413.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	691					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGAAGCAACAGATGAGAAGTT	0.517000			T	ETV6	AML								68	92					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766268	171766268	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:171766268G>A	ENST00000311601.5	-	13	2011	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	614					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTGGAGATGGGCCGGAGGTT	0.527000													13	29					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267095	124267095	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:124267095T>C	ENST00000354597.3	-	1	169	c.153A>G	c.(151-153)ctA>ctG	p.L51L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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;0.0277)		GGTGAGAATTTAGACCGAAAA	0.423000													52	63					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7004974	7004974	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7004974G>A	ENST00000380952.2	-	9	1120	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	ASGR2_ENST00000355035.5_Missense_Mutation_p.R286C|ASGR2_ENST00000254850.7_Missense_Mutation_p.R262C|ASGR2_ENST00000446679.2_Missense_Mutation_p.R267C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	286	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TCGTTCCAGCGGCCATCCGGC	0.597000													29	48					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74396354	74396354	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:74396354G>A	ENST00000319380.7	-	8	1093	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	343							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCTGAGCATGGTCAAAGCATC	0.592000													15	36					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926949	1926949	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:1926949C>T	ENST00000399161.2	-	10	1339	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D198N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	198					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCAGTTCATCGTAATTGTCA	0.408000													8	13					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113798	59113798	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:59113798G>A	ENST00000395153.3	+	4	2493	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	DACT1_ENST00000335867.4_Silent_p.K819K|DACT1_ENST00000395151.3_Silent_p.K538K|DACT1_ENST00000541264.2_Silent_p.K538K|DACT1_ENST00000556859.1_Silent_p.K538K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	819					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ATAACCTCAAGAAGAAGATCC	0.453000													36	62					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57597819	57597819	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:57597819G>A	ENST00000340339.4	+	5	880	c.357G>A	c.(355-357)cgG>cgA	p.R119R	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.R119R	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						AGCTGACCCGGGACGCCTGCA	0.627000													27	32					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111082242	111082242	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:111082242G>A	ENST00000360467.5	+	8	794	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	163					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCCCCAAGGACCAAAAGGG	0.453000													13	32					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551645	35551645	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:35551645C>T	ENST00000262626.2	+	9	1560	c.735C>T	c.(733-735)ccC>ccT	p.P245P	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.P87P|HPN_ENST00000392226.1_Silent_p.P245P	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	245	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCTATCTTCCCTTTCGGGACC	0.637000													46	64					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94564359	94564359	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:94564359G>A	ENST00000370225.3	-	6	845	c.759C>T	c.(757-759)ctC>ctT	p.L253L	ABCA4_ENST00000535735.1_Silent_p.L253L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	253					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACACGGAAGAGCTTGAAGA	0.587000													16	36					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40434738	40434738	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:40434738G>A	ENST00000319592.4	-	5	1974	c.1265C>T	c.(1264-1266)gCc>gTc	p.A422V	RBM47_ENST00000381795.6_Missense_Mutation_p.A422V|RBM47_ENST00000295971.7_Missense_Mutation_p.A491V|RBM47_ENST00000381793.2_Missense_Mutation_p.A491V|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_Missense_Mutation_p.A453V			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	491						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ggctgcggcggcagcagcACT	0.587000													10	11					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414348	48414348	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:48414348C>T	ENST00000249598.1	-	2	679	c.520G>A	c.(520-522)Gat>Aat	p.D174N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	174					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCAGAACATCATAAATGACC	0.517000													10	22					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20136055	20136055	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:20136055G>A	ENST00000345530.3	-	21	2487	c.2372C>T	c.(2371-2373)tCt>tTt	p.S791F	WDR35_ENST00000281405.4_Missense_Mutation_p.S780F|WDR35_ENST00000416055.2_Missense_Mutation_p.S356F	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	791										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATCACCAGATCCAGTTTT	0.458000													18	40					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621267	8621267	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:8621267G>A	ENST00000429646.2	+	9	3499	c.706G>A	c.(706-708)Gac>Aac	p.D236N	CPZ_ENST00000360986.4_Missense_Mutation_p.D628N|CPZ_ENST00000382480.2_Missense_Mutation_p.D491N|CPZ_ENST00000315782.6_Missense_Mutation_p.D617N			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	628					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCCTCGGCCGACGGGAGTAA	0.716000													20	26					0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028704	38028704	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:38028704C>T	ENST00000445217.1	+	4	1179	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.L382F|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.L382F			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGCCAAACCTCAGCAGACA	0.418000													6	22					0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24172303	24172303	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:24172303C>T	ENST00000374479.3	-	8	1310	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	435					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TTATCTGGATCTGTGGACCAC	0.438000													27	66					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276417	16276417	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:16276417G>T	ENST00000205557.7	-	17	2128	c.2099C>A	c.(2098-2100)gCc>gAc	p.A700D	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	700	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTGCACCCAGGCCTCCTGGGG	0.577000													17	35					3.28513e-13	3.323e-13	1	1	0
NEXN	91624	broad.mit.edu	37	1	78392164	78392164	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:78392164G>A	ENST00000330010.8	+	6	660	c.363G>A	c.(361-363)atG>atA	p.M121I	NEXN_ENST00000334785.7_Missense_Mutation_p.M185I|NEXN_ENST00000457030.1_Missense_Mutation_p.M171I	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	185	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTGGAAAAATGAAAAAGAATT	0.308000													8	38					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656689	40656689	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:40656689G>A	ENST00000406785.1	-	2	921	c.732C>T	c.(730-732)atC>atT	p.I244I	SLC8A1_ENST00000542756.1_Silent_p.I244I|SLC8A1_ENST00000542024.1_Silent_p.I244I|SLC8A1_ENST00000408028.2_Silent_p.I244I|SLC8A1_ENST00000406391.2_Silent_p.I244I|SLC8A1_ENST00000405901.3_Silent_p.I244I|SLC8A1_ENST00000405269.1_Silent_p.I244I|SLC8A1_ENST00000403092.1_Silent_p.I244I|SLC8A1_ENST00000402441.1_Silent_p.I244I|SLC8A1_ENST00000332839.4_Silent_p.I244I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	244					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACACAACACAGATGGGAAAGA	0.448000													14	32					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65458980	65458980	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:65458980G>A	ENST00000300107.3	-	4	690	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	168					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTCTTAGGGGGAGGTGGTGGT	0.388000													37	89					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231112650	231112650	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:231112650G>A	ENST00000392045.3	+	8	876	c.762G>A	c.(760-762)atG>atA	p.M254I	SP140_ENST00000343805.6_Missense_Mutation_p.M228I|SP140_ENST00000486687.2_Intron|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.M254I	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	254					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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)		GCAACGGGATGATAGATGCGG	0.443000													56	88					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44888545	44888545	+	Silent	SNP	G	G	A	rs144333328	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:44888545G>A	ENST00000261866.7	-	25	4186	c.4170C>T	c.(4168-4170)tcC>tcT	p.S1390S	SPG11_ENST00000558319.1_Silent_p.S1390S|SPG11_ENST00000535302.2_Silent_p.S1390S|SPG11_ENST00000427534.2_Silent_p.S1390S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1390					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTGGATAAGGGATTTCACCT	0.428000													11	24					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46682265	46682265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:46682265C>T	ENST00000274793.7	-	5	598	c.402G>A	c.(400-402)tgG>tgA	p.W134*	PLA2G7_ENST00000541026.1_Nonsense_Mutation_p.W7*|PLA2G7_ENST00000538237.1_Nonsense_Mutation_p.W89*|PLA2G7_ENST00000537365.1_Nonsense_Mutation_p.W134*	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	134					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GAGGGGAATTCCAGTTTGCAG	0.388000													33	139					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50438877	50438877	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:50438877T>C	ENST00000376020.2	-	2	203	c.178A>G	c.(178-180)Aat>Gat	p.N60D	SHROOM4_ENST00000289292.7_Missense_Mutation_p.N60D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	60	PDZ.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCATTGATATTCACCAGCTCA	0.483000													13	9					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69651668	69651668	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:69651668C>T	ENST00000435070.2	+	5	787	c.677C>T	c.(676-678)cCa>cTa	p.P226L	CPSF6_ENST00000266679.8_Missense_Mutation_p.P226L|CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	226	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCAGGAGGGCCACCCCCACCT	0.488000													21	35					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87073875	87073875	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:87073875G>A	ENST00000390655.6	-	4	573	c.515C>T	c.(514-516)aCc>aTc	p.T172I	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Intron|CD8B_ENST00000393761.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.T172I|CD8B_ENST00000331469.2_Missense_Mutation_p.T172I	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	172					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CAGGCCAAGGGTGATGGGGCT	0.532000													8	7					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275601	238275601	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:238275601G>A	ENST00000295550.4	-	11	5681	c.5229C>T	c.(5227-5229)gtC>gtT	p.V1743V	COL6A3_ENST00000346358.4_Silent_p.V1543V|COL6A3_ENST00000353578.4_Silent_p.V1537V|COL6A3_ENST00000472056.1_Silent_p.V1136V|COL6A3_ENST00000409809.1_Silent_p.V1537V|COL6A3_ENST00000347401.3_Silent_p.V1542V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1743	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAATCTGAGGGACCCGCTGGT	0.587000													21	33					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216692542	216692542	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216692542C>T	ENST00000391890.3	-	8	1553	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	ESRRG_ENST00000487276.1_Missense_Mutation_p.E339K|ESRRG_ENST00000361525.3_Missense_Mutation_p.E339K|ESRRG_ENST00000366938.2_Missense_Mutation_p.E339K|ESRRG_ENST00000493603.1_Missense_Mutation_p.E339K|ESRRG_ENST00000366937.1_Missense_Mutation_p.E374K|ESRRG_ENST00000360012.3_Missense_Mutation_p.E339K|ESRRG_ENST00000408911.3_Missense_Mutation_p.E362K|ESRRG_ENST00000463665.1_Missense_Mutation_p.E300K|ESRRG_ENST00000361395.2_Missense_Mutation_p.E339K|ESRRG_ENST00000366940.2_Missense_Mutation_p.E339K|ESRRG_ENST00000359162.2_Missense_Mutation_p.E339K|ESRRG_ENST00000493748.1_Missense_Mutation_p.E339K	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	362					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTTCTTTTTCCAGCTTCATG	0.358000													11	24					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284316	14284316	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:14284316G>A	ENST00000310358.7	+	0	2590							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGTCATGTGGGAAAGGCCACG	0.532000													9	19					0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151062948	151062948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:151062948C>T	ENST00000368918.3	+	3	506	c.175C>T	c.(175-177)Cga>Tga	p.R59*	GABPB2_ENST00000368916.1_Nonsense_Mutation_p.R59*|GABPB2_ENST00000368917.1_Nonsense_Mutation_p.R59*	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	59					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGTACTCCTTCGAGCAGGTGT	0.507000													32	58					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37164402	37164402	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:37164402G>A	ENST00000274258.7	-	37	7788	c.4201C>T	c.(4201-4203)Cct>Tct	p.P1401S	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2521S|C5orf42_ENST00000508244.1_Missense_Mutation_p.P2521S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2521										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCATCCAAAGGATGGGAACCA	0.294000													18	32					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296060	20296060	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20296060G>A	ENST00000568211.1	+	1	453	c.453G>A	c.(451-453)ggG>ggA	p.G151G	OR4N2_ENST00000315947.1_Silent_p.G151G			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGCTTGGGGGTTTTGTCC	0.532000													38	160					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844570	77844570	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:77844570G>A	ENST00000216471.4	+	1	1095	c.809G>A	c.(808-810)aGa>aAa	p.R270K	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	270										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGGAACCAAGAAAGTCTAGT	0.498000													19	43					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344943	56344943	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:56344943G>A	ENST00000526812.2	-	1	320	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTTCTGAGAGGAAATTGTGCA	0.433000													23	47					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475767	27475767	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:27475767G>A	ENST00000356183.4	-	34	5761	c.5746C>T	c.(5746-5748)Ctt>Ttt	p.L1916F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1916F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1916						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTGTCTTCAAGAGCTGGGGGT	0.652000													30	83					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813782	106813782	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:106813782C>T	ENST00000407775.2	+	8	1722	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S359F|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S222F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S359F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	491					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATTGGGCCTTCTTTCCCTGTG	0.443000													40	98					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229933	7229933	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7229933C>T	ENST00000379938.2	+	10	2138	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	RREB1_ENST00000349384.6_Missense_Mutation_p.S534F|RREB1_ENST00000334984.6_Missense_Mutation_p.S534F|RREB1_ENST00000379933.3_Missense_Mutation_p.S534F	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	534	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCAGGCTTCCCCGGGCTGT	0.672000													21	51					0	0	1	0	0
C19orf47	126526	broad.mit.edu	37	19	40832354	40832354	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:40832354G>A	ENST00000582783.1	-	7	602	c.590C>T	c.(589-591)cCt>cTt	p.P197L	C19orf47_ENST00000392035.2_Missense_Mutation_p.P130L	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	197										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCGCTTGGCAGGAACAGCCAG	0.627000													17	21					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390545	48390545	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:48390545C>T	ENST00000224600.4	-	1	446	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	111	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAAGCAGTTCCTCTTCTGAGA	0.637000													26	72					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108042083	108042083	+	Missense_Mutation	SNP	G	G	A	rs150290151		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:108042083G>A	ENST00000369022.2	-	5	832	c.623C>T	c.(622-624)tCg>tTg	p.S208L	SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.S237L|SCML4_ENST00000369020.3_Missense_Mutation_p.S266L|SCML4_ENST00000369025.2_Missense_Mutation_p.S24L			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCAGTACAGCGAGGAGGAGGG	0.627000													15	9					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1029076	1029076	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:1029076G>A	ENST00000421673.2	-	11	1400	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	450	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCACCAGGGAGGTCTCGG	0.677000													6	14					0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68725644	68725644	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:68725644C>T	ENST00000252338.4	+	1	561	c.519C>T	c.(517-519)tcC>tcT	p.S173S		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	173						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						ACTCCCTTTCCCGTGCCCCGG	0.587000													19	8					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43154182	43154182	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:43154182C>T	ENST00000252050.4	+	4	1324	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	CUL9_ENST00000354495.3_Missense_Mutation_p.P414S|CUL9_ENST00000372647.2_Missense_Mutation_p.P414S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	414					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAACGGCATTCCCCCTGTGCA	0.587000													23	87					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756232	94756232	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:94756232C>T	ENST00000554723.1	-	2	1237	c.819G>A	c.(817-819)gtG>gtA	p.V273V	SERPINA10_ENST00000261994.4_Silent_p.V233V|SERPINA10_ENST00000393096.1_Silent_p.V233V|SERPINA10_ENST00000554173.1_Silent_p.V233V			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	233					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGATGTAATCCACAAGAATTA	0.413000													17	45					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122289499	122289499	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:122289499C>T	ENST00000296161.4	+	4	2322	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	DTX3L_ENST00000383661.3_Silent_p.S199S	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	711					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		ACAAAACATCCCGGTTTGGAG	0.423000													19	37					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113057509	113057509	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:113057509C>T	ENST00000369684.4	+	2	681	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	WNT2B_ENST00000369686.4_Silent_p.L47L|WNT2B_ENST00000256640.5_5'UTR|WNT2B_ENST00000478360.1_3'UTR	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	66					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTGGGGCACTGGGGGCACG	0.567000													36	74					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36108086	36108086	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:36108086C>T	ENST00000203166.5	+	7	571	c.546C>T	c.(544-546)ccC>ccT	p.P182P	HAUS5_ENST00000379045.2_Silent_p.P182P	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	182					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCCTGGAGCCCGTGGTCCTGG	0.627000													9	38					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128306884	128306884	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:128306884G>A	ENST00000368227.3	-	23	3650	c.3284C>T	c.(3283-3285)cCc>cTc	p.P1095L	PTPRK_ENST00000368213.5_Missense_Mutation_p.P1084L|PTPRK_ENST00000368210.3_Missense_Mutation_p.P1096L|PTPRK_ENST00000368207.3_Missense_Mutation_p.P1110L|PTPRK_ENST00000532331.1_Missense_Mutation_p.P1100L|PTPRK_ENST00000368226.4_Missense_Mutation_p.P1078L|PTPRK_ENST00000368215.3_Missense_Mutation_p.P1077L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1077	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TACAACGATGGGGCCAGCACT	0.483000													27	19					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370100	56370100	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56370100C>T	ENST00000301295.6	+	3	1763	c.1341C>T	c.(1339-1341)tcC>tcT	p.S447S	NLRP4_ENST00000346986.5_Silent_p.S447S|NLRP4_ENST00000587891.1_Silent_p.S372S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	447	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTGAGAGCTCCTACGTGTTCC	0.537000													39	66					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51644837	51644837	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:51644837C>T	ENST00000375695.2	+	13	2469	c.2316C>T	c.(2314-2316)acC>acT	p.T772T	MAGED1_ENST00000375772.3_Silent_p.T716T|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.T716T|MAGED1_ENST00000375722.1_Silent_p.T716T	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	716					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AGCTGCTGACCTGGGATGAGG	0.557000										Multiple Myeloma(10;0.10)			21	8					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721238	160721238	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:160721238C>T	ENST00000274547.2	-	11	1606	c.1389G>A	c.(1387-1389)aaG>aaA	p.K463K	GABRB2_ENST00000517901.1_Silent_p.K362K|GABRB2_ENST00000520240.1_Silent_p.K425K|GABRB2_ENST00000353437.6_Silent_p.K425K|GABRB2_ENST00000393959.1_Silent_p.K463K|GABRB2_ENST00000517547.1_Silent_p.K265K	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	463					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCGACTTTTCTTTTGCGCCA	0.522000													14	21					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699264	17699264	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:17699264C>T	ENST00000399080.2	-	1	442	c.419G>A	c.(418-420)aGa>aAa	p.R140K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	140										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAAGCCTCTCTGTCATGCAG	0.483000													18	38					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128782030	128782030	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:128782030G>A	ENST00000529694.1	+	2	1238	c.862G>A	c.(862-864)Gag>Aag	p.E288K	KCNJ5_ENST00000338350.4_Missense_Mutation_p.E288K|KCNJ5_ENST00000533599.1_Missense_Mutation_p.E288K	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	288					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCCTTTCTGGGAGATGTCTCA	0.537000													46	50					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24452754	24452754	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:24452754G>A	ENST00000398319.2	+	10	1578	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.R348Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.R398Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	398					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCCGTGTCCGAAACACCAAG	0.448000													40	136					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54798505	54798505	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:54798505C>T	ENST00000293379.4	-	13	1660	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	467					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCATTGCCATCCAGGTCTCGG	0.572000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	51					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70530586	70530586	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:70530586G>A	ENST00000357887.3	-	3	2598	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F	SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000528359.1_Silent_p.F615F|SLC8A3_ENST00000381269.2_Intron	NM_033262.3	NP_150287.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	615	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCATCTCAATGAAGTAATTCT	0.398000													36	52					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875172	247875172	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:247875172C>T	ENST00000302084.2	-	1	933	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E296K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			TCTCTTACTTCCTTATTACGA	0.428000													48	85					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112062	59112062	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:59112062T>C	ENST00000335867.4	+	4	745	c.721T>C	c.(721-723)Ttt>Ctt	p.F241L	DACT1_ENST00000395151.3_5'UTR|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000556859.1_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	241					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CACACCACAATTTAATTCCCT	0.443000													31	52					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482354	76482354	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:76482354G>A	ENST00000389840.5	-	45	7135	c.7011C>T	c.(7009-7011)ttC>ttT	p.F2337F	DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.F2346F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTGAACACGAAGTACAGCT	0.627000													5	19					0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82750862	82750862	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:82750862G>A	ENST00000256151.7	-	2	752	c.341C>T	c.(340-342)cCt>cTt	p.P114L	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						TTCTGACAAAGGATGGTCGAC	0.428000													44	88					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655875	12655875	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12655875C>T	ENST00000425538.1	+	10	1470	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S	MYOCD_ENST00000343344.4_Missense_Mutation_p.P424S|MYOCD_ENST00000395988.1_Missense_Mutation_p.P328S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	424					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)		TGTCACTTTTCCTGTCACACC	0.572000													41	72					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049412	70049412	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:70049412C>T	ENST00000330891.5	-	10	1508	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	BEST3_ENST00000553096.1_Missense_Mutation_p.D322N|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.D215N	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	428						chloride channel complex|plasma membrane	chloride channel activity	p.D428N(1)|p.D215N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGGCTGAGGTCATCTCGGGGT	0.592000													31	45					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643314	156643314	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:156643314G>A	ENST00000296518.7	+	9	2050	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R356Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R614Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	614					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTGTACCACGAAAAATCAAT	0.378000													34	49					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620533	46620533	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:46620533G>T	ENST00000330070.4	-	2	2135	c.968C>A	c.(967-969)tCc>tAc	p.S323Y		NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	323					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S323C(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TAGGCTAGGGGAGAGGCCTCC	0.582000													26	54					5.52252e-06	5.54886e-06	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168101260	168101260	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:168101260C>T	ENST00000409195.1	+	9	3447	c.3358C>T	c.(3358-3360)Cat>Tat	p.H1120Y	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H898Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H1120Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	945					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAGAAATTCATAAGGGAGA	0.378000													10	18					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:86808051G>A	ENST00000441037.2	+	10	1606	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_ENST00000421325.2_Missense_Mutation_p.R504Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R235Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000													14	35					0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107240	120107240	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:120107240C>T	ENST00000307128.5	+	6	893	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	227							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AATCCCCTTTCTGGCAGACGG	0.388000													27	52					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39607459	39607459	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:39607459C>T	ENST00000287152.7	-	4	420	c.326G>A	c.(325-327)gGg>gAg	p.G109E	KIF6_ENST00000538893.1_Missense_Mutation_p.G109E|KIF6_ENST00000373216.3_Missense_Mutation_p.G109E|KIF6_ENST00000373215.3_Missense_Mutation_p.G109E	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	109	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTCTGCACCCCCTGTGATAGT	0.423000													31	139					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723778	142723778	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142723778C>T	ENST00000350513.2	-	1	504	c.442G>A	c.(442-444)Gga>Aga	p.G148R		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAAAGAAATCCAAACACCCAT	0.428000													30	100					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266481	65266481	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:65266481C>T	ENST00000534336.1	+	0	1249					NR_002819.2																						GAGTTGTTCTCCGTCTATAAA	0.537000													49	117					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209778994	209778994	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:209778994A>T	ENST00000009105.1	+	5	655	c.410A>T	c.(409-411)aAt>aTt	p.N137I	CAMK1G_ENST00000361322.2_Missense_Mutation_p.N137I			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	137	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTACATGAGAATGGCATCGTC	0.522000													39	46					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064458	30064458	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:30064458C>T	ENST00000201979.2	+	2	503	c.210C>T	c.(208-210)tcC>tcT	p.S70S	DEFB124_ENST00000481595.1_5'UTR	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	70					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTTCTGAATCCAGCGACTCTG	0.592000													16	43					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160388939	160388939	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:160388939A>T	ENST00000368061.2	+	4	814	c.340A>T	c.(340-342)Acc>Tcc	p.T114S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	114					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCGGGGGCCACCCTGGCACT	0.667000													27	47					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077203	41077203	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:41077203T>A	ENST00000249016.4	+	2	1236	c.540T>A	c.(538-540)ttT>ttA	p.F180L	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	180					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TGTGGCACTTTGGGGAGACCA	0.557000													47	134					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463416	26463416	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:26463416A>G	ENST00000265944.5	+	30	4389	c.4223A>G	c.(4222-4224)aAg>aGg	p.K1408R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1408					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACATCAAGAAGAAGGATAAC	0.328000													29	59					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17444633	17444633	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:17444633C>T	ENST00000400588.1	-	9	1670	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	521										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGGAAGTCCAGGGCCGCGT	0.657000													5	34					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140729876	140729876	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140729876C>T	ENST00000523390.1	+	1	49	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACTGTTTCCCTTCCTGCT	0.512000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	20					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38525521	38525521	+	Missense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:38525521C>A	ENST00000332509.3	-	8	1309	c.1126G>T	c.(1126-1128)Gtg>Ttg	p.V376L	PLA2G6_ENST00000335539.3_Missense_Mutation_p.V376L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.V376L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	376					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGGTGTCCACTTCTGCTCCG	0.542000													64	48					6.47592e-44	6.6077e-44	1	1	0
SLC26A10	65012	broad.mit.edu	37	12	58016672	58016672	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:58016672C>T	ENST00000379218.2	+	6	1205	c.894C>T	c.(892-894)gcC>gcT	p.A298A	SLC26A10_ENST00000320442.4_Silent_p.A298A			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	298						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CCTCCCTGGCCTCCATCCATG	0.562000													21	36					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7374083	7374083	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7374083G>A	ENST00000502583.1	-	5	1533	c.969C>T	c.(967-969)atC>atT	p.I323I	CAGE1_ENST00000512086.1_Silent_p.I323I|CAGE1_ENST00000296742.7_Silent_p.I187I|CAGE1_ENST00000338150.4_Silent_p.I323I|CAGE1_ENST00000379918.4_Silent_p.I323I	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	323										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GGAGTTCTTGGATTCGCACTT	0.378000													7	36					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135641	51135641	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:51135641C>T	ENST00000338916.4	-	2	1209	c.576G>A	c.(574-576)ggG>ggA	p.G192G	SYT3_ENST00000600079.1_Silent_p.G192G|SYT3_ENST00000593901.1_Silent_p.G192G|SYT3_ENST00000544769.1_Silent_p.G192G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	192						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGCCTGCTCCCCCCTCAGAGG	0.642000													11	28					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100080766	100080766	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:100080766T>C	ENST00000375202.2	+	24	2465	c.1113T>C	c.(1111-1113)agT>agC	p.S371S	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.S371S|CCDC180_ENST00000411667.2_Silent_p.S368S|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Silent_p.S510S					coiled-coil domain containing 180																		CCAGTGAGAGTATCCATACTC	0.562000													14	12					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138662931	138662931	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:138662931C>T	ENST00000298480.5	+	18	2072	c.1998C>T	c.(1996-1998)atC>atT	p.I666I	KCNT1_ENST00000263604.3_Silent_p.I647I|KCNT1_ENST00000491806.2_Silent_p.I633I|KCNT1_ENST00000490355.2_Silent_p.I647I|KCNT1_ENST00000488444.2_Silent_p.I647I|KCNT1_ENST00000487664.1_Silent_p.I621I|KCNT1_ENST00000371757.2_Silent_p.I666I|KCNT1_ENST00000486577.2_Silent_p.I627I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	666						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)		ACAGCATCATCGCCTCCATGG	0.697000													4	7					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40468954	40468954	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:40468954G>A	ENST00000301825.3	+	11	1663	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.K515K|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	515						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CCAGAAGAAAGAGGCACTCCG	0.537000													8	42					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946898	40946898	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:40946898G>A	ENST00000295974.8	-	7	1654	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	APBB2_ENST00000513140.1_Missense_Mutation_p.P342L|APBB2_ENST00000508593.1_Missense_Mutation_p.P343L|APBB2_ENST00000506352.1_Missense_Mutation_p.P342L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	342					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTCTGGGGTGGGAGATGGCGT	0.498000													31	50					0	0	1	0	0
THAP3	90326	broad.mit.edu	37	1	6688564	6688564	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:6688564C>T	ENST00000377627.3	+	2	107	c.80C>T	c.(79-81)cCg>cTg	p.P27L	THAP3_ENST00000307896.6_Missense_Mutation_p.P27L|THAP3_ENST00000054650.4_Missense_Mutation_p.P27L|THAP3_ENST00000484676.1_3'UTR	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	27							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTTAGGTTTCCGTTCAGCCGC	0.597000													8	15					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74395863	74395863	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:74395863G>A	ENST00000319380.7	-	9	1359	c.1295C>T	c.(1294-1296)cCt>cTt	p.P432L		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	432							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CGTCTCCTCAGGGCTGGCAGA	0.617000													34	44					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355570	21355570	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:21355570C>T	ENST00000256958.2	+	10	1377	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	427					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TATATTTTTTCATACTCTGTG	0.308000													16	29					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193708	105193708	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:105193708G>A	ENST00000428173.2	+	27	4801	c.4498G>A	c.(4498-4500)Gac>Aac	p.D1500N	NRK_ENST00000540278.1_Missense_Mutation_p.D80N|NRK_ENST00000243300.9_Missense_Mutation_p.D1499N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1499	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATGTGGAAAGACATACCATC	0.383000										HNSCC(51;0.14)			10	2					0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029198	41029198	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:41029198G>A	ENST00000244669.2	+	2	307	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	88					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCATCTCGGGGATACCTAGAG	0.577000													85	58					0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186256671	186256671	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:186256671G>A	ENST00000392499.2	-	4	690	c.351C>T	c.(349-351)tcC>tcT	p.S117S	CRYGS_ENST00000307944.5_Silent_p.S117S	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	117	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GCTCCATGATGGAAGGGCAAT	0.478000													20	26					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48214139	48214139	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:48214139C>T	ENST00000298396.2	-	3	164	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	SSX3_ENST00000376893.3_Missense_Mutation_p.E38K	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	38	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TTCATCTTTTCCCACTCTTCC	0.393000													28	3					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415665	74415665	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:74415665C>T	ENST00000376332.3	-	7	1113	c.617G>A	c.(616-618)gGg>gAg	p.G206E	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.G206E	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	206					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TCTCTTTCTCCCAGCATCACT	0.597000													16	11					0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10600186	10600186	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:10600186G>A	ENST00000544822.1	-	7	922	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	KLRC1_ENST00000536188.1_Missense_Mutation_p.R179C|KLRC1_ENST00000408006.3_Missense_Mutation_p.R161C|KLRC1_ENST00000347831.5_Missense_Mutation_p.R161C|KLRC1_ENST00000359151.3_Missense_Mutation_p.R179C	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	179	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CTGCTGTTACGAAACACACCA	0.308000													30	61					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784092	151784092	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:151784092C>T	ENST00000255262.3	-	1	748	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	195					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACCAGGGACCCATTGGGGAAG	0.577000													5	162					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477463	25477463	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:25477463C>T	ENST00000453082.2	+	0	1685					NR_003343.1																						ACCCTGGTCTCCTGCACTGAG	0.567000													20	40					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47608985	47608985	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47608985C>T	ENST00000371891.3	+	5	586	c.555C>T	c.(553-555)gtC>gtT	p.V185V	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.V185V|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.V185V	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	185			V -> F (in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15).			endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	p.V185V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGGAGGTCTTTCAGCACG	0.542000													14	27					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6588623	6588623	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:6588623G>A	ENST00000321612.6	-	13	1810	c.1660C>T	c.(1660-1662)Cca>Tca	p.P554S		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	554					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACTACCAGTGGAATCATGCTG	0.428000													14	27					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471506	4471506	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:4471506G>A	ENST00000325719.4	+	1	982	c.937G>A	c.(937-939)Gat>Aat	p.D313N		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCAAGAAAGGATATGTAGAG	0.478000													12	12					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13894920	13894920	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13894920G>A	ENST00000265104.4	-	16	2374	c.2270C>T	c.(2269-2271)gCt>gTt	p.A757V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	757	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGATATTCAGCTAGCATCAT	0.378000									Kartagener syndrome				62	93					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39814835	39814835	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:39814835C>T	ENST00000216160.6	+	6	711	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	TAB1_ENST00000331454.3_Missense_Mutation_p.R217C	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	217	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGAGCTCTTCCGTCTTTCGCA	0.577000													25	93					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87623858	87623858	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:87623858C>T	ENST00000320005.5	-	14	1667	c.1620G>A	c.(1618-1620)ttG>ttA	p.L540L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	540					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAACGGATTTCAATCTTAGCA	0.328000													95	30					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205022330	205022330	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:205022330G>A	ENST00000331830.4	+	2	301	c.17G>A	c.(16-18)aGg>aAg	p.R6K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	6					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAGCCACCAGGAGGAAGCCA	0.597000													33	87					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14627259	14627259	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:14627259G>A	ENST00000218075.4	+	7	1392	c.862G>A	c.(862-864)Gca>Aca	p.A288T	GLRA2_ENST00000443437.2_Missense_Mutation_p.A199T|GLRA2_ENST00000355020.4_Missense_Mutation_p.A288T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	288					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.A288T(1)|p.A288S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGCCAGGGTCGCACTGGGCAT	0.468000													10	60					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182451	57182451	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:57182451C>T	ENST00000504228.1	+	6	2888	c.2783C>T	c.(2782-2784)tCt>tTt	p.S928F	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S928F|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S921F			Q6ZU35	K1211_HUMAN	KIAA1211	928										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGCCGCTCTGTTCCTGTG	0.647000													11	18					0	0	1	0	0
RASA4B	100271927	broad.mit.edu	37	7	102136604	102136604	+	Missense_Mutation	SNP	C	C	T	rs746316		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:102136604C>T	ENST00000481893.1	-	16	1962	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M					RAS p21 protein activator 4B									p.V352M(1)		skin(1)	1						AAAGACTCCACGGACTTTGAG	0.542000													4	49					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54860025	54860025	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54860025C>T	ENST00000545554.1	+	29	5986	c.5986C>T	c.(5986-5988)Ctg>Ttg	p.L1996L	UNC13C_ENST00000537900.1_Silent_p.L1994L|UNC13C_ENST00000260323.11_Silent_p.L1996L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1996	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGAAATGGCCTGAAAAAGAA	0.353000													3	9					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78944663	78944663	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:78944663G>A	ENST00000286627.5	-	4	1566	c.614C>T	c.(613-615)tCc>tTc	p.S205F	KCNMA1_ENST00000354353.5_Missense_Mutation_p.S205F|KCNMA1_ENST00000286628.8_Missense_Mutation_p.S205F|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S205F|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S205F|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S205F|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S205F|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S205F	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	205					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATTCTGGCAGGATTCTATTGG	0.428000													28	60					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585365	7585365	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:7585365G>A	ENST00000379802.3	+	24	8211	c.7870G>A	c.(7870-7872)Gac>Aac	p.D2624N	DSP_ENST00000418664.2_Missense_Mutation_p.D2025N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2624	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCCATCTTTGACACAGAAAA	0.493000													54	78					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166963269	166963269	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:166963269G>A	ENST00000061240.2	+	11	1999	c.1352G>A	c.(1351-1353)gGa>gAa	p.G451E	TLL1_ENST00000507499.1_Missense_Mutation_p.G451E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	451	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AATTGGGTAGGAAAAGGCTTT	0.368000													31	57					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424891	125424891	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:125424891T>C	ENST00000373686.1	+	1	1047	c.1047T>C	c.(1045-1047)ggT>ggC	p.G349G				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	349			G -> R (in dbSNP:rs16912062).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGAAGCAGGGTTTGGCAAAGT	0.388000													22	51					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55581809	55581809	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:55581809C>T	ENST00000361849.3	-	34	6077	c.5683G>A	c.(5683-5685)Gaa>Aaa	p.E1895K	PCDH15_ENST00000395432.2_Missense_Mutation_p.E1853K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1870K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.E747K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1890K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1893K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1824K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1893					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTGATTTTTCAAGTTCTGCT	0.373000										HNSCC(58;0.16)			42	71					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85769328	85769328	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:85769328G>A	ENST00000373131.1	+	2	698	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.E25K|DACH2_ENST00000373125.4_Missense_Mutation_p.E192K	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGTGTTGCAGGAAAATGCCCG	0.458000													17	6					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708421	37708421	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:37708421C>T	ENST00000539465.1	+	4	878	c.285C>T	c.(283-285)ttC>ttT	p.F95F	FRMPD1_ENST00000377765.3_Silent_p.F95F|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	95	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCAAGCTTTTCCCTGGTGATC	0.483000													36	55					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119729088	119729088	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:119729088C>T	ENST00000541757.1	+	5	584	c.204C>T	c.(202-204)atC>atT	p.I68I	MARCO_ENST00000327097.4_Silent_p.I146I			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	146					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGTTCAGAATCAAAGGTGAAC	0.582000													33	71					0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905487	905487	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:905487C>T	ENST00000579794.1	+	1	378	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	RP11-672L10.2_ENST00000581719.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.P34S	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	34					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTCCGGTTCCCCGGGATCAG	0.632000													9	33					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260934	30260934	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:30260934G>A	ENST00000378982.2	+	1	878	c.682G>A	c.(682-684)Ggg>Agg	p.G228R		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	228	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GAATATGCTGGGGATCTATGA	0.478000													15	7					0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161010101	161010101	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:161010101G>A	ENST00000368021.3	-	10	938	c.734C>T	c.(733-735)tCc>tTc	p.S245F	USF1_ENST00000435396.1_Missense_Mutation_p.S186F|USF1_ENST00000368019.1_Missense_Mutation_p.S217F|USF1_ENST00000368020.1_Missense_Mutation_p.S245F	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	245	Helix-loop-helix motif.				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACAAGCTTTGGATAGAATCCC	0.453000													28	54					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115343993	115343993	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:115343993C>T	ENST00000351270.3	+	11	1420	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	HABP2_ENST00000542051.1_Missense_Mutation_p.P416S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	442	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGGGTCCTTTCCCTCTGGGAG	0.512000													14	37					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188340	57188340	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:57188340C>T	ENST00000331162.4	-	5	1052	c.782G>A	c.(781-783)aGa>aAa	p.R261K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAGTTCTCTTATGTCT	0.423000													16	33					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223386	44223386	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:44223386C>T	ENST00000244314.5	+	2	875	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	226						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTACGACTTTCCCACGCTGGT	0.687000													5	14					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887441	3887441	+	Silent	SNP	C	C	T	rs144871484		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:3887441C>T	ENST00000319331.3	+	2	1877	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	372	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATAGCAATCCCCTCAGGTGTG	0.483000													28	64					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58325019	58325019	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:58325019G>A	ENST00000219301.4	-	4	501	c.107C>T	c.(106-108)tCc>tTc	p.S36F	PRSS54_ENST00000567164.1_Missense_Mutation_p.S36F|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	36					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTAGAAAACGGAAGCTTTCTG	0.622000													9	28					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576999	158576999	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158576999C>T	ENST00000361284.1	+	1	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTTCCTTCGTGTACCTGA	0.493000													53	118					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307210	54307210	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:54307210G>A	ENST00000545554.1	+	1	2110	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D704N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D704N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	704					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGCCACAGTGATCTTCAAGA	0.428000													6	7					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100126624	100126624	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:100126624C>T	ENST00000524871.1	+	17	2428	c.2138C>T	c.(2137-2139)tCc>tTc	p.S713F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S713F|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.S713F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S713F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S639F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	713	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCCCATTTTCCCTGGGCTGG	0.493000													21	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179658154	179658154	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179658154G>C	ENST00000589042.1	-	9	1737	c.1513C>G	c.(1513-1515)Cag>Gag	p.Q505E	TTN_ENST00000460472.2_Missense_Mutation_p.Q505E|TTN_ENST00000360870.5_Missense_Mutation_p.Q505E|TTN_ENST00000591111.1_Missense_Mutation_p.Q505E|TTN_ENST00000342992.6_Missense_Mutation_p.Q505E|TTN_ENST00000342175.6_Missense_Mutation_p.Q505E|TTN_ENST00000359218.5_Missense_Mutation_p.Q505E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	505							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)			ACGTGCATCTGCTCTTGCTTT	0.403000													5	145					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284787	223284787	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:223284787C>T	ENST00000540964.1	-	4	2048	c.1587G>A	c.(1585-1587)agG>agA	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)		GGCTTAGTCCCCTTAATGCAG	0.413000													37	65					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17487808	17487808	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:17487808G>A	ENST00000252590.4	-	1	351	c.290C>T	c.(289-291)gCc>gTc	p.A97V		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	97						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGCATGATGGCATCCTTGGC	0.632000													25	44					0	0	1	0	0
HMOX2	3163	broad.mit.edu	37	16	4557933	4557933	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:4557933G>A	ENST00000570646.1	+	4	1029	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	HMOX2_ENST00000219700.6_Missense_Mutation_p.G142R|HMOX2_ENST00000406590.2_Missense_Mutation_p.G142R|HMOX2_ENST00000575120.1_Missense_Mutation_p.G113R|HMOX2_ENST00000398595.3_Missense_Mutation_p.G142R|HMOX2_ENST00000414777.1_Missense_Mutation_p.G142R|HMOX2_ENST00000458134.3_Missense_Mutation_p.G142R	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	142					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CCACTACATAGGGCAGAACGA	0.597000													23	28					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28916477	28916477	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28916477C>T	ENST00000257192.4	+	9	1378	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	389	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CGTCCAGGTTCAAAGACATAT	0.383000													20	45					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43005579	43005579	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:43005579G>A	ENST00000587309.1	-	13	2150	c.2127C>T	c.(2125-2127)agC>agT	p.S709S	KIF18B_ENST00000590129.1_Silent_p.S718S|KIF18B_ENST00000438933.2_Silent_p.S709S|KIF18B_ENST00000339151.4_Silent_p.S700S|KIF18B_ENST00000593135.1_Silent_p.S697S	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGGGCACCCGGCTTTTGATGA	0.637000													10	10					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755762	140755762	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140755762C>T	ENST00000517434.1	+	1	2112	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCGTCTTCCTGGCCTTCG	0.667000													23	57					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9013826	9013826	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:9013826C>T	ENST00000299698.7	+	28	3615	c.3435C>T	c.(3433-3435)tcC>tcT	p.S1145S	A2ML1_ENST00000539547.1_Silent_p.S654S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	989						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACATTTTCTCCCTGGCTGGGG	0.468000													45	93					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261648	39261648	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:39261648G>A	ENST00000391415.1	+	1	65	c.8G>A	c.(7-9)aGc>aAc	p.S3N		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	3						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACCATGGTCAGCTCCTGTTGT	0.592000													18	17					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45560424	45560424	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:45560424C>T	ENST00000347644.3	+	13	1281	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	406					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GAGGAATGTCCTGGAAGCTGC	0.527000													25	46					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343323	69343323	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:69343323G>A	ENST00000305363.4	+	8	1008	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	315	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGTGACAGGATTTGGAGCA	0.403000													122	239					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79349983	79349983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:79349983G>A	ENST00000233735.1	+	5	441	c.338G>A	c.(337-339)tGg>tAg	p.W113*		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	113	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CGCTGGCACTGGAGCAGTGGG	0.557000													33	84					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62567222	62567222	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:62567222T>A	ENST00000430451.2	+	6	1932	c.1735T>A	c.(1735-1737)Ttc>Atc	p.F579I		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	579	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GACCTTTGTTTTCCAGGTGGC	0.473000													9	19					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45381731	45381731	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:45381731G>A	ENST00000252485.4	+	6	1645	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	491					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGTCCCATGGAACCAGATGG	0.587000													10	6					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29519770	29519770	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:29519770G>A	ENST00000389048.3	-	9	2707	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	601	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GACACATCGAGGAGAGGCAAC	0.532000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	33					0	0	1	0	0
PSMC4	5704	broad.mit.edu	37	19	40478366	40478366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:40478366C>T	ENST00000157812.2	+	3	424	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	PSMC4_ENST00000455878.2_Intron	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCTCCATGCCCAGGAGGAGGT	0.517000													13	21					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								20	49					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183713475	183713475	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:183713475G>A	ENST00000511685.1	+	26	5773	c.5650G>A	c.(5650-5652)Gat>Aat	p.D1884N	TENM3_ENST00000406950.2_Missense_Mutation_p.D1884N					teneurin transmembrane protein 3																		CTTCGAATACGATATGTGGGA	0.502000													29	51					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109049539	109049539	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:109049539G>A	ENST00000335658.6	-	5	565	c.511C>T	c.(511-513)Cct>Tct	p.P171S	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	171						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCCACAGGAGGAAGAGCCACT	0.507000													18	45					0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101960915	101960915	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:101960915G>A	ENST00000536178.1	+	9	1675	c.1630G>A	c.(1630-1632)Ggc>Agc	p.G544S	SH2B2_ENST00000306803.8_Missense_Mutation_p.G504S			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	505					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GGAGTCAGGGGGCTCGGCCGA	0.612000													26	39					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120219473	120219473	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:120219473G>A	ENST00000019103.5	-	7	1007	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	247					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGAGAAGAAGGAGATGGCGAG	0.537000													27	54					0	0	1	0	0
TRMT10A	93587	broad.mit.edu	37	4	100475086	100475086	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100475086G>A	ENST00000273962.3	-	6	813	c.501C>T	c.(499-501)atC>atT	p.I167I	TRMT10A_ENST00000394877.3_Silent_p.I167I|TRMT10A_ENST00000394876.2_Silent_p.I167I	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		GTTTGATATGGATATCCTTTA	0.323000													17	38					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													5	138					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970854	151970854	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:151970854G>A	ENST00000355193.2	-	7	1166	c.948C>T	c.(946-948)acC>acT	p.T316T	KMT2C_ENST00000262189.6_Silent_p.T316T					lysine (K)-specific methyltransferase 2C																		AATCCTGAAAGGTGCCGGCTC	0.433000													7	258					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35919229	35919229	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:35919229C>T	ENST00000490799.1	-	18	2633	c.2280G>A	c.(2278-2280)ggG>ggA	p.G760G	SLC26A8_ENST00000355574.2_Silent_p.G760G|SLC26A8_ENST00000394602.2_Silent_p.G655G	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	760	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CACAGTGACACCCTGCAATGA	0.468000													30	120					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170952613	170952613	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:170952613C>T	ENST00000367759.4	+	9	821	c.667C>T	c.(667-669)Cct>Tct	p.P223S	MROH9_ENST00000367758.3_Missense_Mutation_p.P223S	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CCTCCAGTTTCCTTCTTCTGA	0.373000													9	19					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345511	28345511	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:28345511C>T	ENST00000337532.5	-	17	1725	c.1449G>A	c.(1447-1449)gtG>gtA	p.V483V	MPP7_ENST00000540098.1_Silent_p.V483V|MPP7_ENST00000375719.3_Silent_p.V483V|MPP7_ENST00000375732.1_Silent_p.V483V	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	483	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTATAAATATCACATAGGGCT	0.353000													22	44					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692121	106692121	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:106692121C>T	ENST00000390607.2	-	0	82																											AGCCCCAGTTCCATGGTGAAT	0.502000													40	100					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34094839	34094839	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:34094839G>A	ENST00000297161.2	+	10	1225	c.851G>A	c.(850-852)gGc>gAc	p.G284D	BMPER_ENST00000426693.1_Missense_Mutation_p.G284D	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	284	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGCCAGGAGGGCTGTTGTGAA	0.493000													37	56					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117050993	117050993	+	Silent	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:117050993T>G	ENST00000356083.3	+	43	4447	c.4056T>G	c.(4054-4056)ggT>ggG	p.G1352G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1352	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCTGTGGGTGATCGAGGAG	0.622000													8	11					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:103143606G>A	ENST00000424685.2	-	52	8505	c.8346C>T	c.(8344-8346)ttC>ttT	p.F2782F	RELN_ENST00000428762.1_Silent_p.F2782F|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.F2782F			P78509	RELN_HUMAN	reelin	2782					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2782L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTCACACCGAAGTCAGTAG	0.408000													42	56					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137219247	137219247	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:137219247G>A	ENST00000239926.4	+	7	1365	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	MYOT_ENST00000515645.1_Missense_Mutation_p.E216K|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.E147K	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	331	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAGAGCAGGAGAAGCCACCTT	0.423000													10	35					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136898795	136898795	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:136898795A>T	ENST00000303407.7	-	12	2283	c.2098T>A	c.(2098-2100)Tcc>Acc	p.S700T	BRD3_ENST00000473349.1_5'UTR|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	700	Ser-rich.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTGAGCCTGGACGGGCCCCCT	0.642000			T	C15orf55	lethal midline carcinoma of young people								6	4					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383917	85383917	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:85383917C>T	ENST00000258888.5	+	5	2180	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	671					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)			CCACACACTCCTTGACCCCCC	0.627000													14	34					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38935245	38935245	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:38935245G>A	ENST00000355481.4	+	7	690	c.559G>A	c.(559-561)Gag>Aag	p.E187K	RYR1_ENST00000360985.3_Missense_Mutation_p.E187K|RYR1_ENST00000359596.3_Missense_Mutation_p.E187K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	187	MIR 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E187K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCCAGTGGGGAGCTCCAGGT	0.617000													11	15					0	0	1	0	0
CARD18	59082	broad.mit.edu	37	11	105009551	105009551	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:105009551C>T	ENST00000530950.1	-	2	261	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	CARD18_ENST00000532895.1_Missense_Mutation_p.G49S|CARD18_ENST00000526823.1_Missense_Mutation_p.G49S	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	88	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						TAGTGCAAACCCATCTTTGAG	0.403000													46	144					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31597595	31597595	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:31597595C>T	ENST00000326132.5	+	6	634	c.475C>T	c.(475-477)Cct>Tct	p.P159S	RNF185_ENST00000266252.7_Missense_Mutation_p.P103S|RNF185_ENST00000426256.2_Missense_Mutation_p.P97S	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	159						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TGGGCGGCCTCCTCCAGGTAA	0.388000													18	68					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114189206	114189206	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:114189206C>T	ENST00000369615.1	+	12	2159	c.2097C>T	c.(2095-2097)tcC>tcT	p.S699S	MAGI3_ENST00000369617.4_Silent_p.S724S|MAGI3_ENST00000307546.9_Silent_p.S699S|MAGI3_ENST00000369611.4_Silent_p.S699S	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	724					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTCAGGATCCCCAAAATTGG	0.388000													30	40					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922026	131922026	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:131922026C>T	ENST00000286355.5	-	6	3660	c.1568G>A	c.(1567-1569)aGg>aAg	p.R523K	ADCY8_ENST00000377928.3_Missense_Mutation_p.R523K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	523					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCCACTTCCTTAGTCCCAA	0.478000										HNSCC(32;0.087)			156	53					0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326096	63326096	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:63326096G>A	ENST00000255695.1	-	3	213	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	52					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGTCAGGGCAGACAGGACACT	0.557000													41	92					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884682	23884682	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:23884682C>T	ENST00000355349.3	-	36	5353	c.5191G>A	c.(5191-5193)Gat>Aat	p.D1731N	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1731					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGTCAGCATCCATCTTCTTC	0.542000													17	44					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117868435	117868435	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:117868435C>G	ENST00000297338.2	-	8	1194	c.907G>C	c.(907-909)Gca>Cca	p.A303P		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	303	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATGCAAATGCTTCTTCCTCA	0.403000													11	217					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992616	176992616	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:176992616G>A	ENST00000367654.2	-	7	1375	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.S454S|ASTN1_ENST00000361833.2_Silent_p.S454S|ASTN1_ENST00000367657.3_Silent_p.S454S			O14525	ASTN1_HUMAN	astrotactin 1	454					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGGTCCGCTGGAGTTCTGCT	0.647000													7	12					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153120	5153120	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:5153120G>A	ENST00000307388.1	-	1	752	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAACTGTAGGAAGACACAAA	0.418000													25	44					0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90320308	90320308	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:90320308C>T	ENST00000341735.3	+	1	720	c.720C>T	c.(718-720)gtC>gtT	p.V240V	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	240					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GGAGGGGGGTCCACGACACGG	0.711000													6	5					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25266545	25266545	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:25266545G>A	ENST00000328086.7	-	2	1371	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	190					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGTAAGGGCCGACGTTCTCGC	0.602000													25	46					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244064	46244064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:46244064C>T	ENST00000334344.6	+	15	2330	c.2158C>T	c.(2158-2160)Cag>Tag	p.Q720*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q571*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q330*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	720					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACAGTTATCCAGAATTCCAT	0.448000			"""N, S, F"""		hepatocellular carcinoma								35	72					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965716	123965716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:123965716C>T	ENST00000314393.4	+	3	2801	c.1966C>T	c.(1966-1968)Cag>Tag	p.Q656*		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	656						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCTACTCCCCAGGAGTACGA	0.527000													21	69					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39554141	39554141	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:39554141G>A	ENST00000287152.7	-	8	980	c.886C>T	c.(886-888)Cct>Tct	p.P296S	KIF6_ENST00000373213.4_Missense_Mutation_p.P135S|KIF6_ENST00000538893.1_Missense_Mutation_p.P296S|KIF6_ENST00000373216.3_Missense_Mutation_p.P296S|KIF6_ENST00000373215.3_Missense_Mutation_p.P296S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	296					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTCTATAAGGAATGTGCGAA	0.408000													88	59					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861129	55861129	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:55861129G>A	ENST00000302124.2	+	1	377	c.346G>A	c.(346-348)Gga>Aga	p.G116R	OR8I2_ENST00000560768.1_Missense_Mutation_p.G116R			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTCCTTCTGGGATCAATGGC	0.428000													43	71					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101933603	101933603	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:101933603G>A	ENST00000348070.1	-	9	1019	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	PCSK6_ENST00000331826.7_Silent_p.F175F|PCSK6_ENST00000358417.3_Silent_p.F340F|PCSK6_ENST00000398181.2_Silent_p.F340F|PCSK6_ENST00000344273.2_Silent_p.F340F|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	341	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.F340F(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCCAGACGAAAATGGAGC	0.627000													16	29					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11407759	11407759	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:11407759G>A	ENST00000259089.4	+	6	1052	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	BLK_ENST00000529894.1_Missense_Mutation_p.E83K	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	154	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAGAGAGAGTGAAACCAACAA	0.572000													15	13					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118581982	118581982	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:118581982C>G	ENST00000336338.5	-	23	3317	c.3252G>C	c.(3250-3252)aaG>aaC	p.K1084N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1084						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTCTCTTCCTTTTTCACAA	0.378000													18	32					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2334793	2334793	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:2334793G>A	ENST00000301732.5	-	24	4390	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I	ABCA3_ENST00000382381.3_Silent_p.I1172I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1230					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGATGCGCATGATGGTGACCA	0.632000													8	16					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269947	150269947	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:150269947C>T	ENST00000255945.2	+	3	964	c.789C>T	c.(787-789)atC>atT	p.I263I	GIMAP4_ENST00000461940.1_Silent_p.I277I|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	263							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGAAAATCAGAAAGCTGG	0.463000													4	24					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430476	29430476	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29430476G>A	ENST00000377136.1	+	4	1395	c.930G>A	c.(928-930)agG>agA	p.R310R	OR2H1_ENST00000442615.1_Silent_p.R310R|OR2H1_ENST00000396792.2_Silent_p.R310R|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Silent_p.R310R|OR2H1_ENST00000377132.1_Silent_p.R310R			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GAGACTCCAGGGAAAGCTGGA	0.438000													10	39					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391650	31391650	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:31391650G>A	ENST00000268296.4	+	27	3245	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	ITGAX_ENST00000562522.1_Missense_Mutation_p.E1042K	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1042					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGTCCAGGAGGAGCTGGATTT	0.622000													12	24					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33547955	33547955	+	Splice_Site	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:33547955G>A	ENST00000294517.6	+	4	692	c.105_splice	c.e4+1	p.T35_splice	ADC_ENST00000398167.1_Splice_Site_p.T35_splice|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Splice_Site_p.T35_splice|ADC_ENST00000373443.3_Splice_Site_p.T35_splice|ADC_ENST00000358680.3_Splice_Site_p.T35_splice|ADC_ENST00000373440.1_Splice_Site_p.T35_splice	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	35				MAGYLSESDFVMVEEGFSTRDLLKELTLGASQATT -> QQ GSSVASTEPGSGTWKDHGWHAQGASWMGSHIHPLLVIQ (in Ref. 3; BAB85531).	polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	AGGCCACCACGGTGAGGGGCT	0.602000													8	13					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481655	95481655	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:95481655C>T	ENST00000432432.2	-	0	1705					NR_040113.1																						TGTCATTTTTCATTGTACATA	0.299000													20	58					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104458467	104458467	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:104458467G>A	ENST00000229330.4	+	1	233	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	43					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGGAAATGAGGGCATCGCGG	0.706000													9	25					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185073	24185073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:24185073C>T	ENST00000396671.2	-	8	1005	c.657G>A	c.(655-657)tgG>tgA	p.W219*	THRB_ENST00000416420.1_Nonsense_Mutation_p.W219*|THRB_ENST00000356447.4_Nonsense_Mutation_p.W219*|THRB_ENST00000280696.5_Nonsense_Mutation_p.W234*	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	219					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGATGAGCTCCCATTCCTCGT	0.562000													31	54					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24991147	24991147	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:24991147G>A	ENST00000406961.1	+	23	4865	c.4213G>A	c.(4213-4215)Ggg>Agg	p.G1405R	NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1404R|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000348332.3_Missense_Mutation_p.G1405R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1405									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGTAGGCGGGGACCCTTA	0.552000			T	PAX3	alveolar rhadomyosarcoma								39	69					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133035073	133035073	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:133035073C>T	ENST00000367928.4	-	1	115	c.102G>A	c.(100-102)gcG>gcA	p.A34A		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	34	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TGGGCAATATCGCTGCATGCT	0.483000													21	18					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113314071	113314071	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:113314071C>T	ENST00000297405.5	-	53	8635	c.8391G>A	c.(8389-8391)agG>agA	p.R2797R	CSMD3_ENST00000343508.3_Silent_p.R2757R|CSMD3_ENST00000352409.3_Silent_p.R2727R|CSMD3_ENST00000455883.2_Silent_p.R2628R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2797	Sushi 17.					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						AAAGGCATTCCCTTACAGCAG	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	81					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766509	88766509	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:88766509C>T	ENST00000497649.2	+	6	795	c.417C>T	c.(415-417)ctC>ctT	p.L139L	MEPE_ENST00000424957.3_Silent_p.L163L|MEPE_ENST00000560249.1_Silent_p.L50L|MEPE_ENST00000395102.4_Silent_p.L194L|MEPE_ENST00000540395.1_Silent_p.L50L|MEPE_ENST00000361056.3_Silent_p.L163L|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	163					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CGATTAAACTCCTGGGGGAAG	0.403000													24	32					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21124449	21124449	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:21124449G>A	ENST00000269228.5	-	13	2543	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.I345I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	663	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.I663I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGCTCAGCACGATCAAGATGC	0.532000													25	52					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881493	26881493	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:26881493C>T	ENST00000231021.4	-	12	2294	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	708					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCAATATTTTCCCACAGAGGC	0.418000													28	39					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912931	150912931	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:150912931G>A	ENST00000329903.4	+	6	1989	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	652					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCTGATGGGATGAACAGCC	0.552000													17	8					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216258139	216258139	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:216258139G>A	ENST00000366943.2	-	25	5454	c.5068C>T	c.(5068-5070)Cct>Tct	p.P1690S	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.P1690S|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1690	Laminin G-like 1.				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)		CAATCCAGAGGTTCCCAAATA	0.428000										HNSCC(13;0.011)			38	51					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24569397	24569397	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:24569397C>T	ENST00000545054.2	+	7	1725	c.807C>T	c.(805-807)tcC>tcT	p.S269S	NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.S403S|PCK2_ENST00000561286.1_Silent_p.S269S|PCK2_ENST00000558096.1_Silent_p.S269S|PCK2_ENST00000559250.1_Silent_p.S415S|PCK2_ENST00000216780.4_Silent_p.S403S			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	403					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CTGTGACCTCCTGGCTGGGCA	0.542000													11	17					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176063	140176063	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140176063C>T	ENST00000526136.1	+	1	1514	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	PCDHA2_ENST00000378132.1_Missense_Mutation_p.S505L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S505L|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGTTGTCGAGCTACGTT	0.677000													28	64					0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6626600	6626600	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:6626600C>T	ENST00000379953.2	+	4	650	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	LY86_ENST00000230568.4_Missense_Mutation_p.P100S			O95711	LY86_HUMAN	lymphocyte antigen 86	100					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TTTCTCCTATCCCATCTGTGA	0.483000													14	63					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853703	40853703	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:40853703T>G	ENST00000255224.3	-	2	1059	c.691A>C	c.(691-693)Acc>Ccc	p.T231P	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.T213P	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	231	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGATTTGGGTGTAGGGTATC	0.408000													21	78					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100420164	100420164	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100420164C>T	ENST00000358173.3	-	4	1005	c.537G>A	c.(535-537)caG>caA	p.Q179Q	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.Q179Q	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	179					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CACCCTGGTCCTGGAAGGCCA	0.627000													10	14					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70451069	70451069	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:70451069C>T	ENST00000327305.6	-	7	1369	c.712G>A	c.(712-714)Gat>Aat	p.D238N	NETO1_ENST00000583169.1_Missense_Mutation_p.D238N|NETO1_ENST00000299430.2_Missense_Mutation_p.D237N	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	238	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTGCTTCCATCATACACAGCC	0.413000													63	192					0	0	1	0	0
LLPH	84298	broad.mit.edu	37	12	66517682	66517682	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:66517682C>T	ENST00000266604.2	-	3	398	c.328G>A	c.(328-330)Gag>Aag	p.E110K	LLPH_ENST00000446587.2_Missense_Mutation_p.E110K	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	110	Lys-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTCTTTTCTCTCGCTTTGCC	0.423000													21	58					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127783	93127783	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:93127783G>A	ENST00000298050.3	+	10	1300	c.1200G>A	c.(1198-1200)atG>atA	p.M400I	CCDC67_ENST00000525646.1_Missense_Mutation_p.M142I	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	400										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGTTAAAAATGGAATTAGAAA	0.383000													9	17					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314569	176314569	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:176314569C>T	ENST00000292432.5	-	11	1574	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	495	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAGTTGATCATGGTTCAAC	0.682000													21	27					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22848016	22848016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:22848016C>T	ENST00000404138.1	+	16	3587	c.3076C>T	c.(3076-3078)Cga>Tga	p.R1026*	ZBTB40_ENST00000375647.4_Nonsense_Mutation_p.R1026*|ZBTB40_ENST00000374651.4_Nonsense_Mutation_p.R914*	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1026					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTACCACAATCGAACCCACCA	0.498000													26	41					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587279	55587279	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:55587279C>T	ENST00000373965.2	-	33	4656	c.4262G>A	c.(4261-4263)cGa>cAa	p.R1421Q	PCDH15_ENST00000395432.2_Missense_Mutation_p.R1374Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1389Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1025Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1411Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1416Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1414Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1343Q|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1421Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1414Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1414Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1414					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R1414Q(2)|p.R1419Q(1)|p.R1416Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCCTGAATTCGTGCAGTCTT	0.542000										HNSCC(58;0.16)			15	43					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010384	78010384	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:78010384C>T	ENST00000435339.2	+	2	423	c.18C>T	c.(16-18)ttC>ttT	p.F6F	RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Silent_p.F6F	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	6						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACAGAAGATTCATTGACTTCC	0.438000													20	5					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738692	102738692	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:102738692G>A	ENST00000210633.3	+	7	808	c.730G>A	c.(730-732)Gag>Aag	p.E244K	SEMA4G_ENST00000517724.1_Missense_Mutation_p.E244K|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E244K|MRPL43_ENST00000370241.3_3'UTR|SEMA4G_ENST00000519756.1_Intron|MRPL43_ENST00000318325.2_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	244	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTTCTTCACGGAGCGTGCCAC	0.602000													16	25					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033154	20033154	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:20033154C>T	ENST00000377340.2	-	2	347	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	CRNKL1_ENST00000377327.4_Missense_Mutation_p.A94T	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	106					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTGACGGAGGCGGCACCGTTT	0.607000													12	35					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921449	25921449	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:25921449C>T	ENST00000377850.3	-	4	956	c.432G>A	c.(430-432)gtG>gtA	p.V144V	SLC17A2_ENST00000360488.3_Silent_p.V144V|SLC17A2_ENST00000265425.3_Silent_p.V144V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	144					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGACCAAAATCACTCCGAAGT	0.448000													30	129					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064315	9064315	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9064315G>A	ENST00000397910.4	-	3	23334	c.23131C>T	c.(23131-23133)Ccc>Tcc	p.P7711S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7713	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGAGGGGGGGATATGTGCT	0.547000													26	32					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254943	3254943	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:3254943G>A	ENST00000304646.2	+	1	697	c.697G>A	c.(697-699)Gga>Aga	p.G233R	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ATCCACAAAGGGAAGGTGGAA	0.512000													41	67					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113785485	113785485	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:113785485C>T	ENST00000327407.2	-	5	576	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	0					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TGGATTTATTCCACAGAATCT	0.463000													9	18					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	822892	822892	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:822892C>T	ENST00000293892.3	-	11	2292	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	MSLNL_ENST00000442466.1_Missense_Mutation_p.E414K			Q96KJ4	MSLNL_HUMAN	mesothelin-like	414					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCCCTCACCTCTGTCTGGTTC	0.682000													10	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598191	179598191	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179598191G>A	ENST00000589042.1	-	54	16053	c.15829C>T	c.(15829-15831)Ccc>Tcc	p.P5277S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P4960S|TTN_ENST00000342992.6_Missense_Mutation_p.P4033S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4960	Ig-like 33.						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)			AGTGTGGCGGGATCTCCTGCT	0.478000													76	105					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124283811	124283811	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:124283811G>A	ENST00000409039.3	+	13	1853	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	610	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAATATTTGGAAGTAGGTAG	0.388000													21	26					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13323301	13323301	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:13323301G>A	ENST00000360228.5	-	42	6085	c.6086C>T	c.(6085-6087)tCc>tTc	p.S2029F	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S2030F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2030					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGTCACCCAGGACGGGCTCTC	0.642000													4	1					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546995	37546995	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:37546995G>A	ENST00000299824.1	+	11	1579	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D422N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	464					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGCGTGGCCGACGCCACCCC	0.642000													26	57					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873549	36873549	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:36873549C>T	ENST00000429976.2	-	21	7640	c.7393G>A	c.(7393-7395)Gaa>Aaa	p.E2465K	TRANK1_ENST00000301807.6_Missense_Mutation_p.E1915K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E1915K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2465					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGTTTGTATTCCTGAATGATG	0.483000													32	43					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982861	75982861	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:75982861C>T	ENST00000308508.5	-	3	637	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	182	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTCAGAGGCCGGAGGAGGCT	0.657000													4	64					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180622	142180622	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:142180622G>A	ENST00000390368.2	-	0	302																											AGCCATTGGGGACTTCTCCTT	0.527000													83	364					0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903822	111903822	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:111903822G>A	ENST00000374581.3	-	4	662	c.663C>T	c.(661-663)gtC>gtT	p.V221V		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	221	DOMON.					integral to membrane											GCTGTATGCGGACCCTGCCAT	0.448000													20	39					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626719	108626719	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:108626719G>A	ENST00000264047.2	+	9	1421	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	SLC5A7_ENST00000540517.1_Missense_Mutation_p.R277Q|SLC5A7_ENST00000409059.1_Missense_Mutation_p.R382Q	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	382					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGGTTATGCGAATCACAGTG	0.453000													15	37					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854660	18854660	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:18854660C>T	ENST00000447925.2	-	8	1178	c.909G>A	c.(907-909)aaG>aaA	p.K303K	PLCZ1_ENST00000539875.1_Silent_p.K112K|PLCZ1_ENST00000538330.1_Silent_p.K46K|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Silent_p.K305K|PLCZ1_ENST00000541695.1_Silent_p.K168K|PLCZ1_ENST00000435379.1_Silent_p.K110K	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	305					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)					CATGGGTTTCCTTTAAGGTTC	0.383000													7	16					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729434	74729434	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:74729434C>T	ENST00000308807.7	-	2	685	c.222G>A	c.(220-222)ggG>ggA	p.G74G	MLKL_ENST00000306247.7_Silent_p.G74G	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	74							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTTCTATCTCCCCATTAGCCT	0.498000													32	53					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329471	56329471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:56329471G>A	ENST00000443188.1	-	4	780	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Nonsense_Mutation_p.Q24*|NLRP11_ENST00000589093.1_Nonsense_Mutation_p.Q24*|NLRP11_ENST00000360133.3_Nonsense_Mutation_p.Q24*	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	24	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTAAAACTCTGAAATTCCTTG	0.438000													18	31					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811842	13811842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:13811842G>A	ENST00000265104.4	-	44	7425	c.7321C>T	c.(7321-7323)Cag>Tag	p.Q2441*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2441	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTAAGTTCTGGATACAGAAG	0.448000									Kartagener syndrome				22	39					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170735	58170735	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:58170735C>T	ENST00000309403.2	-	1	147	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGACAGGAATCCCAGAATATC	0.423000													28	43					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208418	140208418	+	Missense_Mutation	SNP	G	G	A	rs149898673		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140208418G>A	ENST00000529310.1	+	1	856	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.E248K|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGAATACGAAGTAAGAAT	0.453000													31	41					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157909	26157909	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chrX:26157909C>T	ENST00000325250.1	+	2	994	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	269	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GCTATGAATTCCTGTGGGGTC	0.502000													10	6					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208773	100208773	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:100208773G>A	ENST00000209668.2	-	2	181	c.68C>T	c.(67-69)tCc>tTc	p.S23F	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	23					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CTCCTCAATGGAAAAGGGTTT	0.408000													23	38					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621534	32621534	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:32621534C>T	ENST00000338921.4	+	13	2078	c.1561C>T	c.(1561-1563)Cct>Tct	p.P521S	NRG1_ENST00000539990.1_Missense_Mutation_p.P356S|NRG1_ENST00000356819.4_Missense_Mutation_p.P518S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Missense_Mutation_p.P513S|NRG1_ENST00000405005.2_Missense_Mutation_p.P513S|NRG1_ENST00000287842.3_Missense_Mutation_p.P510S|NRG1_ENST00000287845.5_Missense_Mutation_p.P484S|NRG1_ENST00000519301.1_Missense_Mutation_p.P463S			Q02297	NRG1_HUMAN	neuregulin 1	513					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TAACAGCCTCCCTGCTAGCCC	0.562000													14	20					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534825	96534825	+	Missense_Mutation	SNP	T	T	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:96534825T>G	ENST00000371321.3	+	2	261	c.179T>G	c.(178-180)aTc>aGc	p.I60S	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	60					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CTCTCAAAAATCTATGGCCCT	0.413000													20	34					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915760	13915760	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:13915760C>T	ENST00000254323.2	+	3	699	c.510C>T	c.(508-510)gcC>gcT	p.A170A		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	170							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACGTGGTGGCCCTGTCCCTGT	0.622000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106861258	106861258	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:106861258G>A	ENST00000379987.2	+	6	748	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	NPNT_ENST00000305572.8_Missense_Mutation_p.A178T|NPNT_ENST00000514622.1_Missense_Mutation_p.A178T|NPNT_ENST00000453617.2_Missense_Mutation_p.A195T|NPNT_ENST00000506666.1_Missense_Mutation_p.A208T|NPNT_ENST00000427316.2_Missense_Mutation_p.A208T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	178	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TACAGGAAGAGCCTCCTGCCC	0.388000													22	32					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044147	71044147	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:71044147C>T	ENST00000272367.2	-	4	442	c.366G>A	c.(364-366)caG>caA	p.Q122Q	CLEC4F_ENST00000426626.1_Silent_p.Q122Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	122					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ACTTCAACATCTGGATTTCTA	0.483000													28	47					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19317435	19317435	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:19317435G>A	ENST00000461366.1	+	7	1068	c.853G>A	c.(853-855)Gat>Aat	p.D285N		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	285							GTP binding|GTPase activity|zinc ion binding	p.D285N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGAGCTGAAGGATACAGACCT	0.562000													13	37					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784609	82784609	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82784609G>A	ENST00000423517.2	-	2	1685	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	PCLO_ENST00000333891.8_Missense_Mutation_p.P450S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	401	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGAGCTGGAATCTTTCCT	0.577000													16	32					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579012	82579012	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82579012G>A	ENST00000423517.2	-	6	11229	c.10892C>T	c.(10891-10893)tCa>tTa	p.S3631L	PCLO_ENST00000437081.1_Missense_Mutation_p.S351L|PCLO_ENST00000333891.8_Missense_Mutation_p.S3631L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3562					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						TTTGCCTGGTGAAAGTGGTGA	0.468000													31	71					0	0	1	0	0
TRGV4	6977	broad.mit.edu	37	7	38393368	38393368	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:38393368C>T	ENST00000390345.2	-	0	635																											AATAAGATTTCGCAGTATCAT	0.468000													13	20					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	418940	418940	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:418940C>T	ENST00000332826.6	-	21	2068	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	662						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TCCTGGAAGTCCTTGGTGTGG	0.617000													71	120					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71015054	71015054	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:71015054G>A	ENST00000318789.4	-	20	2401	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	FOXP1_ENST00000491238.1_Missense_Mutation_p.P628S|FOXP1_ENST00000484350.1_Missense_Mutation_p.P550S|FOXP1_ENST00000475937.1_Missense_Mutation_p.P626S|FOXP1_ENST00000498215.1_Missense_Mutation_p.P626S|FOXP1_ENST00000493089.1_Missense_Mutation_p.P625S|FOXP1_ENST00000468577.1_Missense_Mutation_p.P562S	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	626					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GCTTGCATAGGAGATCTGCCT	0.547000			T	PAX5	ALL								84	151					0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77242369	77242369	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:77242369G>A	ENST00000167106.4	+	5	1298	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	222					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GGCATGAGTCGGCGCGAGGAC	0.647000													6	7					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058282	11058282	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:11058282G>A	ENST00000470054.1	-	0	365									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCTTCACAGCATTTGATAG	0.403000													5	187					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650053	93650053	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:93650053C>T	ENST00000375754.4	+	12	1752	c.1604C>T	c.(1603-1605)cCt>cTt	p.P535L	SYK_ENST00000375747.1_Missense_Mutation_p.P512L|SYK_ENST00000375746.1_Missense_Mutation_p.P535L|SYK_ENST00000375751.4_Missense_Mutation_p.P512L	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	535	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGAAAGTGGCCTGTCAAGTGG	0.478000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								55	42					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825222	46825222	+	Splice_Site	SNP	C	C	T	rs141145645		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:46825222C>T	ENST00000339613.2	+	10	1421	c.1167_splice	c.e10+1	p.S389_splice	HIF3A_ENST00000377670.4_Splice_Site_p.S445_splice|HIF3A_ENST00000472815.1_Splice_Site_p.S376_splice|HIF3A_ENST00000420102.2_Splice_Site_p.S394_splice|HIF3A_ENST00000600383.1_Splice_Site_p.S376_splice|HIF3A_ENST00000300862.3_Splice_Site_p.S443_splice|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Splice_Site_p.S376_splice			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S443L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGTCCTCTTTCGGTAAGCCAT	0.627000													23	21					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350431	100350431	+	RNA	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:100350431C>T	ENST00000542585.1	+	0	2851				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_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)			AACTCACCATCCCCACAGAAA	0.507000													34	61					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209968671	209968671	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:209968671G>A	ENST00000367021.3	-	5	644	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	IRF6_ENST00000542854.1_Missense_Mutation_p.P63S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	158					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCTGGATGGGAACATGGTGC	0.507000										HNSCC(57;0.16)			48	76					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101323826	101323826	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:101323826C>T	ENST00000344327.3	-	13	3080	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	TRPC6_ENST00000360497.4_Missense_Mutation_p.E831K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E808K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E770K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	886					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTTAATTTCCTTCAGTTCC	0.398000													20	37					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123755341	123755341	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:123755341C>T	ENST00000375026.2	-	2	400	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	62						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ACTTTCAGGTCATCTGTTGGA	0.423000													24	63					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990217	89990217	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:89990217G>A	ENST00000405460.2	+	33	7740	c.7644G>A	c.(7642-7644)atG>atA	p.M2548I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2548					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCACCTCATGAACATTTCAG	0.393000													17	58					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033251	82033251	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:82033251G>A	ENST00000328945.5	-	3	774	c.647C>T	c.(646-648)cCc>cTc	p.P216L		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	216					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CAGGCTCCTGGGGTCCCCGTA	0.552000													38	94					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105176039	105176039	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:105176039C>T	ENST00000392634.4	+	12	2247	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	INF2_ENST00000330634.7_Missense_Mutation_p.P712L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	712	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGGCCATTCCCTGGTGAGCA	0.652000													23	46					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8317926	8317926	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:8317926G>A	ENST00000381196.4	-	43	6230	c.5687C>T	c.(5686-5688)tCc>tTc	p.S1896F	PTPRD_ENST00000355233.5_Missense_Mutation_p.S1490F|PTPRD_ENST00000397611.3_Missense_Mutation_p.S1486F|PTPRD_ENST00000537002.1_Missense_Mutation_p.S1486F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1874F|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1896F|PTPRD_ENST00000397617.3_Missense_Mutation_p.S1489F|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1883F|PTPRD_ENST00000397606.3_Missense_Mutation_p.S1489F|PTPRD_ENST00000486161.1_Missense_Mutation_p.S1489F|PTPRD_ENST00000540109.1_Missense_Mutation_p.S1896F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1896	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCACGATAGGAAAACTGATA	0.408000										TSP Lung(15;0.13)			35	78					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539762	133539762	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:133539762C>T	ENST00000409261.1	-	14	4995	c.4622G>A	c.(4621-4623)gGg>gAg	p.G1541E	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1541E|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1541							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						GTTTCCAAACCCCAAGACTTT	0.393000													13	34					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71447268	71447268	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:71447268G>A	ENST00000355327.3	+	3	230	c.96G>A	c.(94-96)agG>agA	p.R32R	THSD4_ENST00000261862.6_Silent_p.R32R|RP11-673C5.2_ENST00000561571.1_RNA			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	32						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTCAACACAGGAAGGTAAGCC	0.527000													30	51					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40122212	40122212	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:40122212T>C	ENST00000373233.3	-	10	1457	c.1280A>G	c.(1279-1281)gAa>gGa	p.E427G	CHD6_ENST00000309279.7_Missense_Mutation_p.E427G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	427	Chromo 2.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGAAGAGATTCAAATTCTTT	0.398000													28	55					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003606	57003606	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:57003606G>A	ENST00000606794.1	-	1	1069	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	291						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGCAGTAGGGGAAGATGTTCA	0.587000													16	18					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894149	23894149	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:23894149G>A	ENST00000355349.3	-	22	2670	c.2508C>T	c.(2506-2508)atC>atT	p.I836I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	836					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCAGCGGCTTGATCTTGAAGT	0.557000													22	54					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215823125	215823125	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:215823125G>A	ENST00000272895.7	-	41	6212	c.5993C>T	c.(5992-5994)tCt>tTt	p.S1998F	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.S1680F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1998					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGTGGTGACAGAGTAGCCCAT	0.438000													19	49					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	140997255	140997255	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:140997255C>T	ENST00000508812.1	+	2	2031	c.124C>T	c.(124-126)Cct>Tct	p.P42S	ACPL2_ENST00000504264.1_Missense_Mutation_p.P34S|ACPL2_ENST00000393007.1_Missense_Mutation_p.P35S|ACPL2_ENST00000502783.1_Missense_Mutation_p.P13S|ACPL2_ENST00000393010.2_Missense_Mutation_p.P51S|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Missense_Mutation_p.P51S			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	51						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CATGCCCGACCCTGTGACGGA	0.552000													21	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434141	179434141	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179434141C>T	ENST00000589042.1	-	326	76942	c.76718G>A	c.(76717-76719)cGa>cAa	p.R25573Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16508Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23932Q|TTN_ENST00000342992.6_Missense_Mutation_p.R23005Q|TTN_ENST00000342175.6_Missense_Mutation_p.R16700Q|TTN_ENST00000359218.5_Missense_Mutation_p.R16633Q|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23932	Fibronectin type-III 86.						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)			ACTATCATATCGGTTGACATT	0.423000													18	25					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141130	143141130	+	Missense_Mutation	SNP	C	C	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:143141130C>G	ENST00000332690.1	+	1	585	c.585C>G	c.(583-585)ttC>ttG	p.F195L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	195					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTATCTCTTCCCTCTAAAAA	0.423000													56	199					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53298230	53298230	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:53298230G>A	ENST00000448904.2	-	4	480	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	LECT1_ENST00000377962.3_Missense_Mutation_p.R124C	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	124	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CCAGCAAAACGAATTCCTGTG	0.438000													14	38					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57611094	57611094	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:57611094G>A	ENST00000371236.2	-	3	339	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	DAB1_ENST00000371234.4_Missense_Mutation_p.R26C|DAB1_ENST00000439789.2_Missense_Mutation_p.R26C|DAB1_ENST00000371230.1_Missense_Mutation_p.R26C|DAB1_ENST00000371231.1_Missense_Mutation_p.R26C|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.R26C|DAB1_ENST00000414851.2_Missense_Mutation_p.R26C			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	26					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTCACTGCGATCCTGACCT	0.458000													23	47					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124855690	124855690	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:124855690G>A	ENST00000321582.5	-	1	195	c.8C>T	c.(7-9)gCc>gTc	p.A3V	TTLL11_ENST00000373776.3_Missense_Mutation_p.A3V	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	3					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGAGGCAGCGGCGGCCATGTT	0.697000													2	0					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148009443	148009443	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:148009443G>C	ENST00000369219.1	-	16	1880	c.1864C>G	c.(1864-1866)Cct>Gct	p.P622A				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	622	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CAACCTGAAGGAGTTGAATAG	0.478000													41	497					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57378177	57378177	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:57378177C>T	ENST00000361249.3	+	10	1578	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	494	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGATGGAATTCAATGCCTGCC	0.637000													25	41					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274625	29274625	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29274625C>T	ENST00000377160.2	+	1	223	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ACCGTCGTCTCCATTCCCCCA	0.468000													159	27					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321563	52321563	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:52321563G>A	ENST00000356297.4	-	17	2721	c.2621C>T	c.(2620-2622)cCc>cTc	p.P874L	PXDNL_ENST00000543296.1_Missense_Mutation_p.P874L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	874					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGTCGCAGAGGGACGGCCGCT	0.652000													39	9					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364270	47364270	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:47364270G>A	ENST00000399249.2	-	16	1537	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W	MYBPC3_ENST00000545968.1_Missense_Mutation_p.R495W|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R494W			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	494	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCTCCTCCCGGGTCAGCTCC	0.627000													44	71					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3829438	3829438	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:3829438C>T	ENST00000324333.10	-	9	2256	c.2063G>A	c.(2062-2064)aGa>aAa	p.R688K	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.R843K	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	688					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGGCACAATTCTCTGGGAATC	0.532000													16	38					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230171	39230171	+	Missense_Mutation	SNP	C	C	T	rs150437844	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:39230171C>T	ENST00000340369.3	-	2	994	c.766G>A	c.(766-768)Gca>Aca	p.A256T	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.A256T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	256							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCCGGCATGCGGCCTTGACC	0.617000													39	53					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49063906	49063906	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:49063906G>A	ENST00000226432.4	+	16	2282	c.2099G>A	c.(2098-2100)tGa>tAa	p.*700*	CWH43_ENST00000513409.1_Silent_p.*673*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	0					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TACTTTTTATGAAACATTTAA	0.254000													13	22					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248974	20248974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20248974C>T	ENST00000315957.4	+	1	574	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCATTGTTCGACTTCCTTT	0.493000													43	165					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16337700	16337700	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:16337700C>T	ENST00000400202.1	-	3	3526	c.2814G>A	c.(2812-2814)caG>caA	p.Q938Q	NRIP1_ENST00000400199.1_Silent_p.Q938Q|NRIP1_ENST00000318948.4_Silent_p.Q938Q			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	938					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGAGAAGCAGCTGTTTCAGAA	0.433000													32	61					0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21181241	21181241	+	Missense_Mutation	SNP	A	A	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:21181241A>T	ENST00000592179.1	-	10	1009	c.855T>A	c.(853-855)aaT>aaA	p.N285K	ANKRD29_ENST00000284207.7_Missense_Mutation_p.N252K|ANKRD29_ENST00000322980.9_Missense_Mutation_p.N252K	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	285										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATATACGTTCATTTTTGGTTA	0.428000													25	32					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052167	34052167	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:34052167C>T	ENST00000373381.4	-	46	7164	c.6988G>A	c.(6988-6990)Gaa>Aaa	p.E2330K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2332	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCAGAATTTCATTCCCCACT	0.478000													25	40					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89989980	89989980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:89989980G>A	ENST00000405460.2	+	33	7503	c.7407G>A	c.(7405-7407)tgG>tgA	p.W2469*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2469					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACATCATGGATCAGCCCAG	0.478000													5	8					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78493599	78493599	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:78493599G>A	ENST00000377211.4	-	1	304	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	0					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCGGAACCCAGCTGGGTTCCA	0.582000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	21					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39688490	39688490	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:39688490C>T	ENST00000287152.7	-	2	258	c.164G>A	c.(163-165)aGc>aAc	p.S55N	KIF6_ENST00000538893.1_Missense_Mutation_p.S55N|KIF6_ENST00000373216.3_Missense_Mutation_p.S55N|KIF6_ENST00000373215.3_Missense_Mutation_p.S55N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	55	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAATTTGTAGCTTTCTCGCTT	0.303000													10	69					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130280114	130280114	+	Missense_Mutation	SNP	G	G	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:130280114G>C	ENST00000373312.3	-	6	909	c.696C>G	c.(694-696)aaC>aaG	p.N232K	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.N219K	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	232							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTGCACCTCGTTCCCACACA	0.622000													12	26					0	0	1	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854860	21854860	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr16:21854860G>A	ENST00000415645.2	-	4	431	c.392C>T	c.(391-393)tCc>tTc	p.S131F	NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.S131F					nuclear pore complex interacting protein family, member B4																		TCCTCGAAAGGAAGAAACTCT	0.428000													31	150					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514575	51514575	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:51514575T>C	ENST00000396402.1	-	5	752	c.599A>G	c.(598-600)aAc>aGc	p.N200S	CYP19A1_ENST00000396404.4_Missense_Mutation_p.N200S|CYP19A1_ENST00000557858.1_Missense_Mutation_p.N200S|CYP19A1_ENST00000559878.1_Missense_Mutation_p.N200S|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000405913.3_Missense_Mutation_p.N200S|CYP19A1_ENST00000260433.2_Missense_Mutation_p.N200S	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	200					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GAAGAGCGTGTTAGAGGTGTC	0.493000													25	53					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389846	158389846	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:158389846C>T	ENST00000314902.2	-	1	810	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ATTAGAGCATCCTGGCTTGAG	0.378000													17	46					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7920973	7920973	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:7920973C>T	ENST00000378789.3	-	1	148	c.97G>A	c.(97-99)Gat>Aat	p.D33N		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	33	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTTTCTTCATCATTTGCCCCA	0.318000													16	29					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133233743	133233743	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:133233743G>A	ENST00000320574.5	-	29	3604	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	POLE_ENST00000535270.1_Silent_p.F1160F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1187					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCTCCAGGGTGAAGAGCTCAC	0.567000								DNA polymerases (catalytic subunits)					29	42					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30938428	30938428	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:30938428C>T	ENST00000597505.1	-	24	3440	c.3441G>A	c.(3439-3441)caG>caA	p.Q1147Q	DCDC1_ENST00000339794.5_Silent_p.Q226Q|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTGTTTCTTCTGTGGTTCCA	0.403000													10	19					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201559	24201559	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:24201559G>A	ENST00000536471.1	-	3	807	c.549C>T	c.(547-549)ttC>ttT	p.F183F	CNR2_ENST00000374472.4_Silent_p.F183F			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	183					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGATCAGTGGGAAAAGCTCAG	0.567000													11	27					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080834	6080834	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:6080834T>C	ENST00000199389.6	-	9	954	c.808A>G	c.(808-810)Aaa>Gaa	p.K270E	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.K146E	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	270	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TCATCATTTTTAACACCACAT	0.403000													24	29					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28497338	28497338	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:28497338C>T	ENST00000412168.2	+	2	287	c.198C>T	c.(196-198)ttC>ttT	p.F66F	GPX5_ENST00000469384.1_Silent_p.F66F|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	66					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ACATCCTCTTCGTCAACGTGG	0.428000													34	138					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17199318	17199318	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:17199318C>T	ENST00000285681.2	+	14	1858	c.1489C>T	c.(1489-1491)Cta>Tta	p.L497L	USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Silent_p.L497L|USP25_ENST00000400183.2_Silent_p.L497L			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	497					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ACAGGGAGCCCTATCTTCAGA	0.428000													26	61					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176338	57176338	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:57176338C>T	ENST00000537055.2	-	2	460	c.229G>A	c.(229-231)Gac>Aac	p.D77N		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GAACTGCTGTCGTCGGGGACA	0.647000													12	16					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484941	97484941	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:97484941C>T	ENST00000376705.2	+	2	929	c.905C>T	c.(904-906)aCc>aTc	p.T302I		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	302						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ATGGATTGCACCTACAACCTG	0.542000													19	43					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5427620	5427620	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:5427620G>A	ENST00000399537.4	-	5	2183	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P612L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	612							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ACCTCCAAAGGGGCTCTTCTT	0.672000													3	2					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156747771	156747771	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:156747771C>T	ENST00000347377.6	+	15	2063	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	CYFIP2_ENST00000541131.1_Silent_p.I469I|CYFIP2_ENST00000522463.1_Silent_p.I348I|CYFIP2_ENST00000318218.6_Silent_p.I544I|CYFIP2_ENST00000521420.1_Silent_p.I518I|CYFIP2_ENST00000377576.3_Silent_p.I544I|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.I218I	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	544					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTTGATATCAAGGTGCCCC	0.602000													6	9					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558218	140558218	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:140558218G>A	ENST00000239444.2	+	1	848	c.603G>A	c.(601-603)ctG>ctA	p.L201L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		201	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAAAGCGCTGGACCGAGAGG	0.532000													7	62					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25304722	25304722	+	RNA	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr15:25304722G>A	ENST00000549804.2	+	0	115				SNHG14_ENST00000384733.1_RNA																							ACATTCCTTGGAAAAGCTGAA	0.517000													56	130					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2797695	2797695	+	Missense_Mutation	SNP	C	C	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:2797695C>A	ENST00000399655.1	+	46	6132	c.5867C>A	c.(5866-5868)cCa>cAa	p.P1956Q	CACNA1C_ENST00000399597.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P1962Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P1991Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P1975Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P1976Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P1984Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P1973Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P1997Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P1964Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P1975Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P1964Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P1981Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P2004Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P2027Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P1975Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P1991Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P2027Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2039					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCACCCCACCAGCCACACCT	0.652000													30	54					3.54561e-26	3.60901e-26	1	1	0
ETS2	2114	broad.mit.edu	37	21	40194662	40194662	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr21:40194662G>A	ENST00000360214.3	+	11	1719	c.1259G>A	c.(1258-1260)gGc>gAc	p.G420D	ETS2_ENST00000360938.3_Missense_Mutation_p.G420D	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	420					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CTGAGCCGGGGCTTACGCTAC	0.522000													20	40					0	0	1	0	0
C2orf47	79568	broad.mit.edu	37	2	200820786	200820786	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:200820786C>T	ENST00000295079.2	+	2	587	c.265C>T	c.(265-267)Cct>Tct	p.P89S	C2orf47_ENST00000392290.1_Missense_Mutation_p.P89S	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	89						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						cgcttctttccctgcctgccc	0.647000													4	5					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48698086	48698086	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:48698086G>A	ENST00000236495.5	+	9	1070	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K	SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Silent_p.K315K|SLC5A9_ENST00000533824.1_Silent_p.K336K	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	315						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCATGCCAAGGGAGGCTCCG	0.577000													10	29					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296061	20296061	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20296061G>T	ENST00000568211.1	+	1	454	c.454G>T	c.(454-456)Ggt>Tgt	p.G152C	OR4N2_ENST00000315947.1_Missense_Mutation_p.G152C			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGCTTGGGGGTTTTGTCCA	0.532000													37	158					4.01765e-15	4.07179e-15	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121785620	121785620	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:121785620C>T	ENST00000261367.7	+	11	3242	c.1814C>T	c.(1813-1815)cCt>cTt	p.P605L	SNCAIP_ENST00000379533.2_Missense_Mutation_p.P605L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P192L|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P498L|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P558L|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P160L|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P116L			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	558					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGTCACTCCCTTCTTCACCC	0.408000													29	59					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005700	1005700	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:1005700C>T	ENST00000537687.1	+	24	7470	c.6827C>T	c.(6826-6828)gCc>gTc	p.A2276V	WNK1_ENST00000315939.6_Missense_Mutation_p.A2016V|WNK1_ENST00000340908.4_Missense_Mutation_p.A1609V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1768V|WNK1_ENST00000530271.2_Missense_Mutation_p.A2514V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2016					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GACCCGGAGGCCGCTTTTTTA	0.498000													13	29					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	G	A	rs149331677	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20404428G>A	ENST00000285600.4	+	1	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACCCTAACGAACAGTGGCC	0.448000													21	57					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54794678	54794678	+	Silent	SNP	C	C	T	rs148991401	by1000genomes	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:54794678C>T	ENST00000293379.4	-	25	2856	c.2595G>A	c.(2593-2595)acG>acA	p.T865T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	865					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGTTGAGTCCCGTAACTCTGG	0.557000													8	22					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656204	12656204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:12656204G>A	ENST00000425538.1	+	10	1799	c.1599G>A	c.(1597-1599)tgG>tgA	p.W533*	MYOCD_ENST00000343344.4_Nonsense_Mutation_p.W533*|MYOCD_ENST00000395988.1_Nonsense_Mutation_p.W437*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	533					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)		AACTCACCTGGAAACTCCAGC	0.537000													19	25					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31877510	31877510	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:31877510C>T	ENST00000396184.3	-	11	1260	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	PDE1C_ENST00000396193.1_Missense_Mutation_p.M412I|PDE1C_ENST00000396182.2_Missense_Mutation_p.M352I|PDE1C_ENST00000321453.7_Missense_Mutation_p.M352I|PDE1C_ENST00000396191.1_Missense_Mutation_p.M352I	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	352	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GAGCAGTCTTCATTGCTTTGA	0.433000													58	103					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759074	55759074	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:55759074C>T	ENST00000343399.3	+	1	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGTATTTCTTCCTTCGGAACT	0.418000													48	83					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638230	234638230	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:234638230C>T	ENST00000482026.1	+	1	477	c.458C>T	c.(457-459)cCc>cTc	p.P153L	UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTAACAGACCCCGTTAACCTC	0.453000													57	137					0	0	1	0	0
METTL2B	55798	broad.mit.edu	37	7	128119424	128119424	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:128119424G>A	ENST00000480046.1	+	2	335	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	METTL2B_ENST00000262432.8_Missense_Mutation_p.E139K			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	139							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AATAATGGAAGAACAGCACAA	0.388000													10	116					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202270330	202270330	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:202270330C>T	ENST00000367278.3	+	9	985	c.896C>T	c.(895-897)tCg>tTg	p.S299L	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.S160L|LGR6_ENST00000255432.7_Missense_Mutation_p.S247L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	299						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGGGAAGATCGGCATTCCAG	0.488000													16	23					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724282	112724282	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:112724282G>A	ENST00000501255.2	-	3	1118	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GPR85_ENST00000449591.1_Silent_p.F165F|GPR85_ENST00000297146.2_Silent_p.F165F|GPR85_ENST00000424100.1_Silent_p.F165F	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	165						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCTCCCTAATGAATGAGTAAG	0.507000													26	117					0	0	1	0	0
SPR	6697	broad.mit.edu	37	2	73118507	73118507	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:73118507C>T	ENST00000234454.5	+	3	700	c.627C>T	c.(625-627)gcC>gcT	p.A209A	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	209					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						AGCAGTTGGCCCGGGAGACCT	0.567000													19	39					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12577583	12577583	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:12577583A>G	ENST00000397732.3	-	2	256	c.85T>C	c.(85-87)Tac>Cac	p.Y29H	ZNF709_ENST00000428311.1_Missense_Mutation_p.Y29H|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.Y29H	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATCTCTGTAGAGTTTCTTC	0.438000													33	68					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306738	41306738	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:41306738G>A	ENST00000373198.3	-	7	1156	c.921C>T	c.(919-921)atC>atT	p.I307I	PTPRT_ENST00000373187.1_Silent_p.I307I|PTPRT_ENST00000373201.1_Silent_p.I307I|PTPRT_ENST00000373193.3_Silent_p.I307I|PTPRT_ENST00000373184.1_Silent_p.I307I|PTPRT_ENST00000356100.2_Silent_p.I307I|PTPRT_ENST00000373190.1_Silent_p.I307I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	307	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATTTGGCTTGATCCACAGGT	0.552000													8	11					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136898796	136898796	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:136898796C>T	ENST00000303407.7	-	12	2282	c.2097G>A	c.(2095-2097)ccG>ccA	p.P699P	BRD3_ENST00000473349.1_5'UTR|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	699	Ser-rich.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGAGCCTGGACGGGCCCCCTG	0.647000			T	C15orf55	lethal midline carcinoma of young people								6	4					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7669782	7669782	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:7669782C>T	ENST00000572933.1	+	22	5118	c.3658C>T	c.(3658-3660)Ctt>Ttt	p.L1220F	DNAH2_ENST00000389173.2_Missense_Mutation_p.L1220F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1220	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCCAAGGACCTTCAGAACCT	0.572000													11	37					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680725	159680725	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:159680725G>A	ENST00000393977.3	-	7	1253	c.968C>T	c.(967-969)cCc>cTc	p.P323L	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.P275L	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	323						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTTGAGTGGGGGTGGGGGG	0.642000													20	37					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204931241	204931241	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:204931241C>T	ENST00000539706.1	+	8	1022	c.694C>T	c.(694-696)Cct>Tct	p.P232S	NFASC_ENST00000367172.4_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.P232S|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000403080.1_Intron|NFASC_ENST00000404907.1_Missense_Mutation_p.P232S|NFASC_ENST00000513543.1_Missense_Mutation_p.P232S|NFASC_ENST00000339876.6_Intron	NM_001160332.1	NP_001153804.1	O94856	NFASC_HUMAN	neurofascin	236					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)			TACAGACCACCCTTATAATGA	0.488000													108	263					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439567	145439567	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:145439567C>T	ENST00000511217.1	+	8	1746	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.A565V			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	565							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCCTCAGCCGTGGTGGTG	0.672000													20	37					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564867	47564867	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:47564867C>T	ENST00000334194.3	+	8	981	c.978C>T	c.(976-978)atC>atT	p.I326I	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	326						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCTCCTGGATCCTTTACTGCT	0.478000													41	52					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627088	108627088	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:108627088G>A	ENST00000264047.2	+	9	1790	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G400E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G505E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	505					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGAAAGTGGAACCTTGCCA	0.313000													18	43					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895637	77895637	+	Missense_Mutation	SNP	G	G	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:77895637G>T	ENST00000262198.4	+	4	2796	c.2341G>T	c.(2341-2343)Gat>Tat	p.D781Y		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	781					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CACCTTCCATGATATCAAAGG	0.468000													38	111					1.30015e-28	1.32404e-28	1	1	0
LRMP	4033	broad.mit.edu	37	12	25254170	25254170	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:25254170G>A	ENST00000354454.3	+	15	1629	c.800G>A	c.(799-801)aGg>aAg	p.R267K	LRMP_ENST00000548766.1_Missense_Mutation_p.R267K|LRMP_ENST00000547044.1_Missense_Mutation_p.R267K	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	323					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AACTTGAAGAGGATGTATGCC	0.378000													30	42					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801409	9801409	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9801409G>A	ENST00000457674.2	-	5	1288	c.770C>T	c.(769-771)tCc>tTc	p.S257F	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTTCTAAAGGATCTTCCACA	0.348000													10	28					0	0	1	0	0
ARL9	132946	broad.mit.edu	37	4	57384864	57384864	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:57384864C>T	ENST00000360096.2	+	3	351	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	77							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					TAAACCTTTTCGGTCCTACTG	0.483000													33	66					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31625434	31625434	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:31625434C>T	ENST00000349552.1	+	8	736	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	246						extracellular region	lipid binding										CCTCACGTTCCCTGAGGGTTA	0.577000													28	70					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81833809	81833809	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:81833809C>T	ENST00000550584.2	-	6	882	c.587G>A	c.(586-588)aGg>aAg	p.R196K	PPFIA2_ENST00000548586.1_Missense_Mutation_p.R196K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R196K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R43K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R178K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R122K|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000443686.3_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R196K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R178K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	122										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAAAGAAACCCTCAGTCGCTC	0.408000													21	36					0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5771568	5771568	+	Missense_Mutation	SNP	T	T	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:5771568T>A	ENST00000324331.6	+	7	1598	c.1262T>A	c.(1261-1263)aTg>aAg	p.M421K	FARS2_ENST00000274680.4_Missense_Mutation_p.M421K			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	421	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TACCGCCACATGGAACGGACT	0.587000													99	63					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212286826	212286826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:212286826C>T	ENST00000342788.4	-	24	3180	c.2870G>A	c.(2869-2871)tGg>tAg	p.W957*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.W947*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.W957*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	957	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCAATCATCCAACCTGGAAA	0.353000										TSP Lung(8;0.080)			9	30					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141032134	141032134	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:141032134G>A	ENST00000389484.3	-	85	13972	c.13001C>T	c.(13000-13002)tCa>tTa	p.S4334L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4334	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATGGTACATGATTCAGAATT	0.403000										TSP Lung(27;0.18)			17	35					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27311744	27311744	+	Missense_Mutation	SNP	C	C	T	rs140923137	byFrequency	TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:27311744C>T	ENST00000397501.1	+	34	3477	c.2669C>T	c.(2668-2670)gCc>gTc	p.A890V	PTK2B_ENST00000420218.2_Missense_Mutation_p.A848V|PTK2B_ENST00000517339.1_Missense_Mutation_p.A848V|PTK2B_ENST00000346049.5_Missense_Mutation_p.A890V|PTK2B_ENST00000338238.4_Missense_Mutation_p.A848V|PTK2B_ENST00000544172.1_Missense_Mutation_p.A890V	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	890	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTGGTGCGGGCCGTGCTGGAG	0.637000													22	11					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301096	11301096	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:11301096C>T	ENST00000397056.1	+	3	564	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	HRH1_ENST00000438284.2_Missense_Mutation_p.R125C|HRH1_ENST00000431010.2_Missense_Mutation_p.R125C	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	125					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GTGCATTGATCGCTACCGCTC	0.552000													80	103					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr6:29012589G>A	ENST00000377175.1	-	1	428	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(1)|p.R122S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398000													16	82					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5427621	5427621	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:5427621G>A	ENST00000399537.4	-	5	2182	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	TNRC18_ENST00000430969.1_Missense_Mutation_p.P612S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	612							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCCAAAGGGGCTCTTCTTG	0.672000													3	2					0	0	1	0	0
MAPK12	6300	broad.mit.edu	37	22	50693725	50693725	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:50693725G>A	ENST00000215659.8	-	11	1240	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.P219S	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	309	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGAAGTAGGGATGGGCCAGC	0.617000													33	90					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913034	6913034	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:6913034C>T	ENST00000299459.2	-	1	796	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGAGACTCCCCACAGTTGA	0.428000													29	41					0	0	1	0	0
GPR19	2842	broad.mit.edu	37	12	12815066	12815066	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:12815066G>A	ENST00000540510.1	-	2	509	c.317C>T	c.(316-318)tCc>tTc	p.S106F	GPR19_ENST00000332427.2_Missense_Mutation_p.S106F			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	106						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		ACATGCCATGGAGACCACAAA	0.522000													18	29					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97081303	97081303	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:97081303G>A	ENST00000253262.4	-	7	1735	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	NUTM2F_ENST00000341207.4_Missense_Mutation_p.S557F|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1			NUT family member 2F																		AGGGTCTTCGGACCTGGCCAT	0.657000													14	8					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21169793	21169793	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:21169793G>A	ENST00000377122.4	-	5	806	c.410C>T	c.(409-411)tCa>tTa	p.S137L	NEBL_ENST00000377119.1_Missense_Mutation_p.S137L|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	137				KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGCATAATCTGAGAATCCTTT	0.403000													34	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456708	179456708	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:179456708G>A	ENST00000589042.1	-	302	60147	c.59923C>T	c.(59923-59925)Ctc>Ttc	p.L19975F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L10910F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L18334F|TTN_ENST00000342992.6_Missense_Mutation_p.L17407F|TTN_ENST00000342175.6_Missense_Mutation_p.L11102F|TTN_ENST00000359218.5_Missense_Mutation_p.L11035F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18334	Fibronectin type-III 44.						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)			AACTTACGGAGAGGATCCAAA	0.413000													13	8					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36367910	36367910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:36367910C>T	ENST00000373204.4	+	11	1582	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*	AGO1_ENST00000373206.1_Nonsense_Mutation_p.Q382*	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CTTCGCACCCCAAAAACAGTG	0.567000													17	35					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309087	21309087	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:21309087C>T	ENST00000417816.2	-	3	561	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	NEBL_ENST00000377159.4_Missense_Mutation_p.E36K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	734					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGAAGATTTTCAGGTGTATCT	0.408000													23	63					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457038	7457038	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:7457038C>T	ENST00000399422.4	+	1	159	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	37					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTCTTGCTGACTTTGAAGCCA	0.483000													24	77					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338525	186338525	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:186338525C>T	ENST00000411641.2	+	7	1129	c.910C>T	c.(910-912)Cct>Tct	p.P304S	AHSG_ENST00000273784.5_Missense_Mutation_p.P305S			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	304					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		ACTGGCAGCTCCTCCAGGACA	0.647000													60	123					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357343	149357343	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:149357343G>A	ENST00000355292.3	-	2	1032	c.670C>T	c.(670-672)Cca>Tca	p.P224S	NR3C2_ENST00000512865.1_Missense_Mutation_p.P224S|NR3C2_ENST00000358102.3_Missense_Mutation_p.P224S|NR3C2_ENST00000511528.1_Missense_Mutation_p.P224S|NR3C2_ENST00000344721.4_Missense_Mutation_p.P224S|NR3C2_ENST00000342437.4_Missense_Mutation_p.P224S			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	224	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CTGTGCACTGGAAAACTGCCA	0.542000													13	11					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671063	28671063	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:28671063C>T	ENST00000280904.6	-	4	845	c.402G>A	c.(400-402)aaG>aaA	p.K134K	DSC2_ENST00000251081.6_Silent_p.K134K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	134					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCATCTTCTCTTGGCGCGCC	0.388000													24	16					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205495565	205495565	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:205495565C>T	ENST00000360066.2	+	7	943	c.642C>T	c.(640-642)tcC>tcT	p.S214S	CDK18_ENST00000429964.2_Silent_p.S214S|CDK18_ENST00000506784.1_Silent_p.S244S|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	212	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CAGATCGGTCCCTCACCCTGG	0.592000													45	79					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138413121	138413121	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:138413121C>T	ENST00000409968.1	+	22	4174	c.3996C>T	c.(3994-3996)gtC>gtT	p.V1332V	THSD7B_ENST00000413152.2_Silent_p.V1304V|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.V1335V					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)		CCTGCATGGTCCACAGTGGTT	0.493000													5	12					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039782	62039782	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:62039782C>T	ENST00000354587.3	-	16	2071	c.1895G>A	c.(1894-1896)gGg>gAg	p.G632E	KCNQ2_ENST00000344462.3_Missense_Mutation_p.G620E|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G596E|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G632E|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G593E|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G624E|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G606E|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G594E|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G624E			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	624					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CTCCACCTTCCCGAGCCGTCC	0.716000													7	6					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60786733	60786733	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:60786733C>T	ENST00000313421.7	+	13	2136	c.1950C>T	c.(1948-1950)ccC>ccT	p.P650P	CD6_ENST00000452451.2_Silent_p.P574P|CD6_ENST00000352009.5_Silent_p.P583P|CD6_ENST00000344028.5_Silent_p.P618P|CD6_ENST00000346437.4_Silent_p.P577P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	650					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGGGTCCCCCAGCCCTCAGC	0.642000													8	17					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167810336	167810336	+	Silent	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:167810336T>C	ENST00000357154.3	-	7	680	c.543A>G	c.(541-543)ggA>ggG	p.G181G	SPOCK3_ENST00000511531.1_Silent_p.G181G|SPOCK3_ENST00000535728.1_Silent_p.G89G|SPOCK3_ENST00000510741.1_Silent_p.G178G|SPOCK3_ENST00000541354.1_Silent_p.G61G|SPOCK3_ENST00000534949.1_Silent_p.G85G|SPOCK3_ENST00000512648.1_Silent_p.G178G|SPOCK3_ENST00000357545.4_Silent_p.G178G|SPOCK3_ENST00000541637.1_Silent_p.G83G|SPOCK3_ENST00000506886.1_Silent_p.G181G|SPOCK3_ENST00000504953.1_Silent_p.G178G|SPOCK3_ENST00000502330.1_Silent_p.G181G|SPOCK3_ENST00000421836.2_Silent_p.G130G|SPOCK3_ENST00000511269.1_Silent_p.G178G|SPOCK3_ENST00000512681.1_Silent_p.G83G|SPOCK3_ENST00000507137.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	181	Kazal-like.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATGGGCAATGTCCTTCACATT	0.333000													32	66					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90086768	90086768	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:90086768G>A	ENST00000405460.2	+	70	14218	c.14122G>A	c.(14122-14124)Gga>Aga	p.G4708R	GPR98_ENST00000425867.2_Missense_Mutation_p.G369R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4708	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTGCTGATGGAGAGAGTGA	0.393000													36	53					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950487	68950487	+	Missense_Mutation	SNP	C	C	T	rs138740482		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:68950487C>T	ENST00000288368.4	+	7	1076	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	267	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.L267F(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTGTTTTTTCTTTTCGATAA	0.408000													24	3					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113360	94113360	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:94113360C>T	ENST00000243673.2	-	4	1398	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	GPR83_ENST00000539203.2_Silent_p.G367G	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	409						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)				GGTCTGTCTTCCCAGACTGGA	0.572000													15	25					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860656	26860656	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:26860656G>A	ENST00000398145.2	-	11	1556	c.940C>T	c.(940-942)Cct>Tct	p.P314S	HPS4_ENST00000398141.1_Missense_Mutation_p.P327S|HPS4_ENST00000336873.5_Missense_Mutation_p.P314S|HPS4_ENST00000402105.3_Missense_Mutation_p.P309S	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	314					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCTTCGTCAGGGGATGTGGGA	0.592000									Hermansky-Pudlak syndrome				26	84					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400284	90400284	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:90400284C>T	ENST00000337338.5	+	3	2064	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S	LRRC8D_ENST00000394593.3_Missense_Mutation_p.P553S	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	553						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGCTGAAATTCCTGCCTGGGT	0.433000													25	55					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037210	129037210	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:129037210G>A	ENST00000274487.4	+	20	3211	c.3066G>A	c.(3064-3066)ggG>ggA	p.G1022G	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1022	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACTGCATTGGGCCCAAGCCCG	0.582000													14	33					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784717	9784717	+	Missense_Mutation	SNP	A	A	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:9784717A>G	ENST00000304374.2	+	1	1460	c.1064A>G	c.(1063-1065)aAc>aGc	p.N355S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	355					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCCTCACTCAACCCCGTCATC	0.627000													28	51					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806552	33806552	+	Missense_Mutation	SNP	T	T	C			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:33806552T>C	ENST00000260908.7	-	2	794	c.677A>G	c.(676-678)aAc>aGc	p.N226S	SLFN12L_ENST00000449046.1_Missense_Mutation_p.N257S|SLFN12L_ENST00000361112.4_Missense_Mutation_p.N255S	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	258						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGTCGAGAAGTTTTTTATTTC	0.343000													17	32					0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176987716	176987716	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr2:176987716G>A	ENST00000249499.6	+	1	629	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	74						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGATCGGCCGTGTTCTCTGC	0.761000													3	19					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131469542	131469542	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr9:131469542C>T	ENST00000291906.4	+	6	1086	c.693C>T	c.(691-693)ctC>ctT	p.L231L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	231					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AACTGGACCTCCTGCGCCTGG	0.652000													4	13					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132534888	132534888	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:132534888C>T	ENST00000333577.4	+	41	7438	c.7329C>T	c.(7327-7329)ctC>ctT	p.L2443L	EP400_ENST00000330386.6_Silent_p.L2326L|EP400_ENST00000332482.4_Silent_p.L2370L|EP400_ENST00000389561.2_Silent_p.L2407L|EP400_ENST00000389562.2_Silent_p.L2406L			Q96L91	EP400_HUMAN	E1A binding protein p400	2443					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACCGTCCTCTCCGTACGAGCC	0.517000													40	68					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72623842	72623842	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:72623842C>T	ENST00000273951.8	-	7	1091	c.748G>A	c.(748-750)Gat>Aat	p.D250N	GC_ENST00000513476.1_Missense_Mutation_p.D250N|GC_ENST00000504199.1_Missense_Mutation_p.D269N|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	250	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GGCAAAACATCCTCCAGATCA	0.378000													41	60					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814278	123814278	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:123814278G>A	ENST00000321252.2	-	1	302	c.268C>T	c.(268-270)Cac>Tac	p.H90Y		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGATGGTGTGATCCCCCGTG	0.493000													17	47					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178410006	178410006	+	Missense_Mutation	SNP	C	C	T	rs62638625		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:178410006C>T	ENST00000231188.5	-	9	2519	c.2341G>A	c.(2341-2343)Gag>Aag	p.E781K	GRM6_ENST00000517717.1_Missense_Mutation_p.E781K|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	781			E -> K (in CSNB1B).		detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCTTGGCCTCGTTGAAGGTC	0.582000													29	48					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666123	20666123	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:20666123G>A	ENST00000357366.3	+	1	629	c.629G>A	c.(628-630)aGg>aAg	p.R210K		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTGGATCTAGGATTATTGAC	0.443000													19	19					0	0	1	0	0
MFRP	83552	broad.mit.edu	37	11	119213613	119213613	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:119213613C>T	ENST00000555262.1	-	10	1384	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	MFRP_ENST00000449574.2_Missense_Mutation_p.A409T|MFRP_ENST00000530681.1_Missense_Mutation_p.A409T|MFRP_ENST00000360167.4_Silent_p.Q333Q|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGGTAGGTGGCTGAGAAGCCT	0.622000													9	15					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79190715	79190715	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr13:79190715G>A	ENST00000282003.6	-	6	1239	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	394							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCAACTAAGGGACAAAGGAGT	0.428000													23	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064314	9064314	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:9064314G>A	ENST00000397910.4	-	3	23335	c.23132C>T	c.(23131-23133)cCc>cTc	p.P7711L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7713	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGAGGGGGGGATATGTGC	0.542000													26	34					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99569423	99569423	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:99569423C>T	ENST00000411734.1	-	2	279	c.274G>A	c.(274-276)Gac>Aac	p.D92N	AZGP1_ENST00000292401.4_Missense_Mutation_p.D95N			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	95					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ATAAAGATGTCCTCCCTGGCC	0.507000													37	61					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854101	40854101	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:40854101C>T	ENST00000254691.5	+	3	2866	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	889					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TAAGAACATCCCATATTGGAA	0.488000													34	52					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102555649	102555649	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:102555649C>T	ENST00000251808.3	+	2	539	c.201C>T	c.(199-201)ctC>ctT	p.L67L	GRHL2_ENST00000395927.1_Silent_p.L51L	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	67	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCGGCCTGCTCTATGACTACT	0.527000													21	58					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419171	37419171	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:37419171G>A	ENST00000374660.1	+	3	306	c.207G>A	c.(205-207)ctG>ctA	p.L69L	ANKRD30A_ENST00000361713.1_Silent_p.L69L|ANKRD30A_ENST00000602533.1_Silent_p.L69L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	125						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAATATTCTGATAGATTCTG	0.348000													23	53					0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43308638	43308638	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr1:43308638C>T	ENST00000328249.3	+	9	1931	c.893C>T	c.(892-894)tCt>tTt	p.S298F	RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372514.3_Missense_Mutation_p.S388F|RP11-342M1.2_ENST00000416809.2_RNA|ERMAP_ENST00000372517.2_Missense_Mutation_p.S388F|RP11-342M1.4_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	388	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane		p.S388F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACAATTTCTCTGGCCCCCTT	0.453000													35	76					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33136833	33136833	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:33136833G>A	ENST00000375030.2	+	19	1985	c.1367G>A	c.(1366-1368)aGg>aAg	p.R456K	C10orf68_ENST00000375025.4_Missense_Mutation_p.R561K|C10orf68_ENST00000375028.3_Missense_Mutation_p.R501K			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	497										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACACAACTAAGGACTCACTAT	0.303000													34	46					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806826	2806826	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr8:2806826C>T	ENST00000602557.1	-	69	10955	c.10400G>A	c.(10399-10401)aGg>aAg	p.R3467K	CSMD1_ENST00000400186.3_Missense_Mutation_p.R3290K|CSMD1_ENST00000602723.1_Missense_Mutation_p.R3290K|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3289K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3466K|CSMD1_ENST00000520002.1_Missense_Mutation_p.R3467K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3467						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTACCTTGCCTTTCTAGCTT	0.343000													12	9					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61034972	61034972	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:61034972G>A	ENST00000335613.5	-	16	2313	c.1927C>T	c.(1927-1929)Ccg>Tcg	p.P643S	VWCE_ENST00000535710.1_Missense_Mutation_p.P108S	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	643	VWFC 5.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCACAGACGGGAAGGTCTCG	0.597000													28	59					0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80203735	80203735	+	Missense_Mutation	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr12:80203735G>A	ENST00000450142.2	-	10	1561	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S432F|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S432F|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S345F|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S432F	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	432						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AGTTGCAGGAGACTCATCTTT	0.368000													5	12					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176271	63176271	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr11:63176271C>T	ENST00000279178.3	+	9	1770	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	507					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TCTTCCCCTTCATCTCTGGCT	0.493000													24	54					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8825195	8825195	+	Silent	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr18:8825195C>T	ENST00000359865.3	+	15	3829	c.3687C>T	c.(3685-3687)ggC>ggT	p.G1229G	SOGA2_ENST00000400050.3_Silent_p.G1188G|SOGA2_ENST00000306285.7_Silent_p.G554G|SOGA2_ENST00000518815.1_Silent_p.G554G|SOGA2_ENST00000306329.11_Silent_p.G1548G|SOGA2_ENST00000517570.1_Silent_p.G1188G	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1539																	CCAAGGGAGGCCCTCCAGAAC	0.677000													16	19					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586179	82586179	+	Missense_Mutation	SNP	C	C	T			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:82586179C>T	ENST00000423517.2	-	5	4427	c.4090G>A	c.(4090-4092)Gga>Aga	p.G1364R	PCLO_ENST00000333891.8_Missense_Mutation_p.G1364R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1295					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						GAAGAATATCCCGTGTCGCTC	0.423000													14	17					0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41174000	41174000	+	Silent	SNP	G	G	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:41174000G>A	ENST00000252891.4	-	10	1370	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	NUMBL_ENST00000598779.1_Silent_p.A360A|NUMBL_ENST00000540131.1_Silent_p.A360A	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	401					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGGCTGGAAGGCAGCTGCAG	0.657000													3	5					0	0	1	0	0
GNAT1	2779	broad.mit.edu	37	3	50229182	50229188	+	Frame_Shift_Del	DEL	GGAGAAG	GGAGAAG	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr3:50229182_50229188delGGAGAAG	ENST00000232461.3	+	1	138_144	c.24_30delGGAGAAG	c.(22-30)gafs	p.EEK8fs	GNAT1_ENST00000433068.1_Frame_Shift_Del_p.EEK8fs	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	8					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCAGTGCTGAGGAGAAGCACTCCAGGG	0.623													7	38	---	---	---	---					
CNOT6L	246175	broad.mit.edu	37	4	78697453	78697453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr4:78697453delT	ENST00000504123.1	-	2	229	c.99delA	c.(97-99)aafs	p.K33fs	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Frame_Shift_Del_p.K33fs			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	33					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGTGAGATTTTTTCCCAT	0.373													80	133	---	---	---	---					
C5orf42	65250	broad.mit.edu	37	5	37170213	37170222	+	Frame_Shift_Del	DEL	GGCTCTCTGG	GGCTCTCTGG	-	rs141413425		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:37170213_37170222delGGCTCTCTGG	ENST00000274258.7	-	33	6610_6619	c.3023_3032delCCAGAGAGCC	c.(3022-3033)gtfs	p.AREP1008fs	C5orf42_ENST00000508244.1_Frame_Shift_Del_p.AREP2128fs|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.AREP2128fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2128										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTTCTTGCGAGGCTCTCTGGCGTTCTCTCC	0.410													41	144	---	---	---	---					
LCP2	3937	broad.mit.edu	37	5	169695439	169695439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr5:169695439delG	ENST00000046794.5	-	8	1186	c.571delC	c.(571-573)agfs	p.Q191fs		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	191					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ATCGGTCTCTGGGGGGGCACA	0.607											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
MDFIC	29969	broad.mit.edu	37	7	114562638	114562639	+	In_Frame_Ins	INS	-	-	GAG			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:114562638_114562639insGAG	ENST00000257724.3	+	1	430_431	c.167_168insGAG	c.(166-168)aag>aGAGag	p.56_56K>RE	MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000393486.1_5'UTR			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	0					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CCGGGGCggaagaggaggagga	0.703											OREG0003787	type=REGULATORY REGION|Gene=MDFIC|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	13	---	---	---	---					
RBM33	155435	broad.mit.edu	37	7	155503962	155503970	+	In_Frame_Del	DEL	GCAGCCGCT	GCAGCCGCT	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr7:155503962_155503970delGCAGCCGCT	ENST00000401878.3	+	8	1212_1220	c.1014_1022delGCAGCCGCT	c.(1012-1023)ccg>cc	p.PQPL338del	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	338	Pro-rich.						nucleotide binding|RNA binding	p.P340P(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGTTCCAGCCGCAGCCGCTGCAGCCGCTG	0.646													10	45	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89692885	89692886	+	Frame_Shift_Ins	INS	-	-	TG	rs121909223		TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr10:89692885_89692886insTG	ENST00000371953.3	+	5	1726_1727	c.369_370insTG	c.(367-372)cagtaafs	p.Q*123fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	123	Phosphatase tensin-type.		H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C124S(3)|p.C124fs*10(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.C124R(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGCAATTCACTGTAAAGCTGG	0.406		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			95	140	---	---	---	---					
RP11-58E21.5	0	broad.mit.edu	37	14	50519464	50519465	+	RNA	DEL	AC	AC	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr14:50519464_50519465delAC	ENST00000556019.2	-	0	186																											gcacacacagacacacacacac	0.495													2	4	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3717754	3717754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:3717754delT	ENST00000158149.3	-	13	1544	c.649delA	c.(649-651)gafs	p.R217fs	C17orf85_ENST00000389005.4_Frame_Shift_Del_p.R497fs			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	497							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GAATGTGGTCTTTTTCCTAAC	0.507													15	20	---	---	---	---					
FLCN	201163	broad.mit.edu	37	17	17127428	17127428	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:17127428delG	ENST00000285071.4	-	6	880	c.426delC	c.(424-426)ttfs	p.F143fs	FLCN_ENST00000389169.5_Frame_Shift_Del_p.F143fs|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	143					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATCTCCGAAGAAGATGGGGC	0.572									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				3	3	---	---	---	---					
CPD	1362	broad.mit.edu	37	17	28706062	28706064	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:28706062_28706064delCTG	ENST00000225719.4	+	1	140_142	c.64_66delCTG	c.(64-66)del	p.L25del		NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	25					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCTCATGTGCCTGCTGCTGCTGG	0.729													2	4	---	---	---	---					
DUSP3	1845	broad.mit.edu	37	17	41852248	41852248	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:41852248delC	ENST00000226004.3	-	2	247	c.184delG	c.(184-186)cgfs	p.A63fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.A22fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	63					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		CCCTCAGCCGCGTTCAGCACA	0.547													56	115	---	---	---	---					
BCAS3	54828	broad.mit.edu	37	17	59465991	59465992	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr17:59465991_59465992insA	ENST00000589222.1	+	25	2740_2741	c.2672_2673insA	c.(2671-2673)gaafs	p.E891fs	BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000390652.5_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AAAAAAAAAGGAAAAAAAAAAC	0.431													5	4	---	---	---	---					
GLTSCR2	29997	broad.mit.edu	37	19	48254316	48254316	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr19:48254316delC	ENST00000246802.5	+	4	588	c.550delC	c.(550-552)ccfs	p.P184fs	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	184				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CAAGCCCGGGCCCCAGGACAC	0.657													2	4	---	---	---	---					
ATRN	8455	broad.mit.edu	37	20	3526472	3526473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr20:3526472_3526473insG	ENST00000262919.5	+	4	740_741	c.672_673insG	c.(670-675)ggatgcfs	p.C225fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.C225fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	225	CUB.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CCACATCAGGTTATGCCTTGCT	0.381													25	50	---	---	---	---					
MAPK8IP2	23542	broad.mit.edu	37	22	51041769	51041771	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IH-A3EA-01A-11D-A20D-08	TCGA-IH-A3EA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	620f8719-e0fd-4f5d-a9a0-69f5938732d6	a122f996-7097-4023-8516-c59ba7b2fac9	g.chr22:51041769_51041771delGAG	ENST00000329492.3	+	3	406_408	c.289_291delGAG	c.(289-291)del	p.E103del	MAPK8IP2_ENST00000442429.2_In_Frame_Del_p.E103del|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_In_Frame_Del_p.E76del|MAPK8IP2_ENST00000399912.1_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	103	Asp/Glu-rich (acidic).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	p.E97delE(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ggacgaggaagaggaggaggagg	0.631													3	3	---	---	---	---					
