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
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													4	124					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34084410	34084410	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:34084410A>G	ENST00000397527.1	+	25	3892	c.3172A>G	c.(3172-3174)Act>Gct	p.T1058A	CEP250_ENST00000342580.4_Missense_Mutation_p.T1002A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1058	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTTTAGCCTGACTCTGTCACT	0.433000													64	91					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98232063	98232063	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:98232063T>A	ENST00000284049.3	-	11	1726	c.1577A>T	c.(1576-1578)gAa>gTa	p.E526V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	526	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATTGATGTTCATGAAACAA	0.368000													28	134					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31221508	31221508	+	Missense_Mutation	SNP	C	C	T	rs145217832		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr15:31221508C>T	ENST00000362065.4	+	12	2986	c.2695C>T	c.(2695-2697)Cgg>Tgg	p.R899W	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	899	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GGAGAGCCTGCGGGCCTGGGT	0.602000								Direct reversal of damage					4	245					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30906347	30906347	+	Silent	SNP	C	C	T	rs151080170	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr12:30906347C>T	ENST00000251071.5	-	1	1101	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CAPRIN2_ENST00000417045.1_Silent_p.A117A|CAPRIN2_ENST00000395805.2_Silent_p.A117A|CAPRIN2_ENST00000298892.5_Silent_p.A117A|CAPRIN2_ENST00000308433.5_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	117					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGGTCTCATACGCTTGGGAAG	0.468000											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	179					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134906	45134906	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:45134906G>A	ENST00000296129.1	-	6	1624	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	497	CUB.					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)		CGGGCAGAAGGAGCCGAAGTA	0.597000													37	80					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52616504	52616504	+	Silent	SNP	G	G	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:52616504G>T	ENST00000493422.1	-	6	572	c.417C>A	c.(415-417)gtC>gtA	p.V139V		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	139	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GGCTCTTTAAGACCTGGAGAA	0.542000													83	129					7.49063e-41	8.16287e-41	1	1	0
C9orf47	286223	broad.mit.edu	37	9	91606803	91606803	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:91606803G>A	ENST00000375851.2	+	3	585	c.452G>A	c.(451-453)cGc>cAc	p.R151H	C9orf47_ENST00000334490.5_Missense_Mutation_p.R170H|S1PR3_ENST00000358157.2_Intron|C9orf47_ENST00000375850.3_Missense_Mutation_p.R203H	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	170						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CTTTTCCACCGCACCCGGAGC	0.617000													4	86					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118725078	118725078	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118725078A>T	ENST00000371527.1	-	2	962	c.310T>A	c.(310-312)Tct>Act	p.S104T	NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000304449.5_Missense_Mutation_p.S104T|NKRF_ENST00000542113.1_Missense_Mutation_p.S119T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	104	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ATACTGAAAGAGTCTTGAGTA	0.393000													7	230					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375046	16375046	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:16375046C>T	ENST00000375679.4	+	7	735	c.624C>T	c.(622-624)ggC>ggT	p.G208G		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)		CGGCAGTGGGCGTGGCCACAG	0.657000													21	50					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31167747	31167747	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:31167747G>A	ENST00000349752.5	-	8	1443	c.804C>T	c.(802-804)cgC>cgT	p.R268R	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.R273R|GALNT14_ENST00000420311.2_Silent_p.R233R|GALNT14_ENST00000406653.1_Silent_p.R248R|GALNT14_ENST00000356174.3_Silent_p.R235R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGGTCCAGGCGCCGAGCCT	0.587000													38	73					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640397	104640397	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:104640397C>G	ENST00000304883.2	-	1	576	c.436G>C	c.(436-438)Gcg>Ccg	p.A146P		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	146						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTATGAAGCGCGTAGATGAAA	0.532000													38	62					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100077190	100077190	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:100077190C>T	ENST00000375202.2	+	22	2241	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.R436W|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.R297W|CCDC180_ENST00000411667.2_Missense_Mutation_p.R294W|CCDC180_ENST00000395220.1_Missense_Mutation_p.R436W					coiled-coil domain containing 180																		CTACCTCATGCGGCCCGAAGT	0.493000													4	161					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463524	26463524	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:26463524T>C	ENST00000256737.3	+	2	958	c.106T>C	c.(106-108)Tcc>Ccc	p.S36P	ANO3_ENST00000531646.1_Missense_Mutation_p.S36P|ANO3_ENST00000537978.1_Missense_Mutation_p.S20P|ANO3_ENST00000525139.1_Missense_Mutation_p.S20P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	36						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTCTCGGAGATCCCTGCCTTG	0.438000													117	153					0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116544280	116544280	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:116544280C>T	ENST00000319550.4	+	8	870	c.788C>T	c.(787-789)cCt>cTt	p.P263L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	263							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGTCAGAGACCTTTCCGGACA	0.398000													77	152					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3470222	3470222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:3470222G>A	ENST00000174621.6	-	15	2690	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	TRPV1_ENST00000571088.1_Nonsense_Mutation_p.R803*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.R803*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R793*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R803*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R803*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R743*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R814*			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	803	Interaction with calmodulin (By similarity).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TGCCTATCTCGAGCACTTGCC	0.507000													8	68					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20038418	20038418	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20038418G>A	ENST00000440926.1	-	3	528	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SLC18A1_ENST00000437980.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R20W|SLC18A1_ENST00000276373.5_Missense_Mutation_p.R20W|SLC18A1_ENST00000519026.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R20W	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	20					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		ACCAGCTGCCGGGACGCTCTC	0.587000													20	21					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7663221	7663221	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7663221G>A	ENST00000572933.1	+	17	4210	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R917H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	917	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)				CTCACCAAGCGCAAGTTACAT	0.562000													5	501					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17437095	17437095	+	Splice_Site	SNP	T	T	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:17437095T>A	ENST00000262545.2	+	10	1517		c.e10+2		PCSK2_ENST00000536609.1_Splice_Site|PCSK2_ENST00000377899.1_Splice_Site	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2						enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGGCTAAGTATGTTCATAG	0.557000													15	191					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29623206	29623206	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:29623206C>T	ENST00000439954.2	+	3	368	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	FRG1B_ENST00000358464.4_Silent_p.Y6Y|FRG1B_ENST00000278882.3_Silent_p.Y6Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AACCTATATACATGCACTCGA	0.393000													10	1276					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169626053	169626053	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:169626053A>G	ENST00000305747.6	+	10	1623	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	CERS6_ENST00000392687.4_Missense_Mutation_p.S354G	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	346						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TATTGAGTCTAGCTCAGATGA	0.502000													21	144					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550306	167550306	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:167550306C>T	ENST00000341935.5	+	3	1140	c.588C>T	c.(586-588)gtC>gtT	p.V196V	CCR6_ENST00000349984.4_Silent_p.V196V|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.V196V	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	196					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GCAGCGATGTCTGTGAACCCA	0.483000													6	153					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322335	45322335	+	Silent	SNP	G	G	A	rs79447398		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:45322335G>A	ENST00000589651.1	+	11	1413	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	BCAM_ENST00000270233.6_Silent_p.A453A			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.A453A(1)		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)				TAAAGACAGCGGAAATAGAGC	0.582000													4	192					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537675	55537675	+	Silent	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:55537675A>G	ENST00000220676.1	+	4	1381	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	411					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)			TAAACATTCAAATGACAGATC	0.453000													4	111					0	0	1	0	0
FAM134C	162427	broad.mit.edu	37	17	40761319	40761319	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:40761319G>A	ENST00000309428.5	-	1	83	c.24C>T	c.(22-24)ccC>ccT	p.P8P	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	8						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGGGGTCGTGGGAACCCCTT	0.687000													37	55					0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172585349	172585349	+	Silent	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:172585349C>T	ENST00000534253.2	+	14	1548	c.1380C>T	c.(1378-1380)tgC>tgT	p.C460C	DYNC1I2_ENST00000409773.1_Silent_p.C460C|DYNC1I2_ENST00000397119.3_Silent_p.C460C|DYNC1I2_ENST00000508530.1_Silent_p.C434C|DYNC1I2_ENST00000409197.1_Silent_p.C434C|DYNC1I2_ENST00000410079.3_Silent_p.C452C|DYNC1I2_ENST00000409453.1_Silent_p.C460C|DYNC1I2_ENST00000358002.6_Silent_p.C452C|DYNC1I2_ENST00000340296.4_Silent_p.C434C|DYNC1I2_ENST00000263811.4_Silent_p.C454C|DYNC1I2_ENST00000409317.1_Silent_p.C454C			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	460					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ACACAGCATGCCGCCATGGCA	0.388000													3	35					0	0	1	0	0
SLC25A5	292	broad.mit.edu	37	X	118602491	118602491	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118602491G>A	ENST00000317881.8	+	1	129	c.13G>A	c.(13-15)Gct>Act	p.A5T		NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	5					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GACAGATGCCGCTGTGTCCTT	0.647000													10	23					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													9	175					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87898634	87898634	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:87898634G>A	ENST00000327946.7	-	4	753	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	223						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)	GCGGCGAAGCGTGTCCCGGTA	0.587000										Multiple Myeloma(13;0.14)			97	189					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36743177	36743177	+	Silent	SNP	C	C	T	rs148509448		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:36743177C>T	ENST00000379881.3	-	11	1360	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A501A|SOHLH2_ENST00000554962.1_Silent_p.A501A	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GCTTTTAATACGCCCAAAACT	0.383000													4	260					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725473	140725473	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:140725473G>A	ENST00000253812.6	+	1	1873	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACACGGGCGAGGTGCGCAC	0.701000													9	150					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	C	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:55587212C>G	ENST00000373965.2	-	33	4723	c.4329G>C	c.(4327-4329)ccG>ccC	p.P1443P	PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P1047P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				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)				gcggcggcggcgggggcgCTG	0.582000										HNSCC(58;0.16)			6	160					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58864428	58864428	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:58864428G>A	ENST00000263100.3	-	3	267	c.206C>T	c.(205-207)cCt>cTt	p.P69L	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	69	Ig-like V-type 1.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGGTGCACAGGCTCCTGGGC	0.617000													47	76					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121354641	121354641	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:121354641T>A	ENST00000297848.3	+	44	5114	c.4844T>A	c.(4843-4845)aTg>aAg	p.M1615K	COL14A1_ENST00000309791.4_Missense_Mutation_p.M1615K|COL14A1_ENST00000247781.3_Missense_Mutation_p.M1520K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1615					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)			TCTCAAGCCATGGTGAGATCA	0.488000													43	80					0	0	1	0	0
PTCD2	79810	broad.mit.edu	37	5	71638862	71638862	+	Splice_Site	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:71638862A>G	ENST00000380639.5	+	8	843	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Splice_Site_p.N167S|PTCD2_ENST00000536805.1_Splice_Site_p.N104S|PTCD2_ENST00000543322.1_3'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	276										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ATTAATTTAAATGTAAGTGAT	0.269000													17	140					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								53	112					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			41	11					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10582221	10582221	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:10582221C>A	ENST00000234111.4	-	9	1340	c.830G>T	c.(829-831)aGa>aTa	p.R277I	ODC1_ENST00000405333.1_Missense_Mutation_p.R277I	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	277					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AACATAGTATCTGCCGGGCTC	0.433000													120	103					2.54773e-45	2.81243e-45	1	1	0
MUC4	4585	broad.mit.edu	37	3	195507717	195507717	+	Silent	SNP	G	G	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:195507717G>T	ENST00000463781.3	-	2	11193	c.10734C>A	c.(10732-10734)tcC>tcA	p.S3578S	MUC4_ENST00000475231.1_Silent_p.S3578S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	376					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S3578S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCTGTGGATACTGAGG	0.587000													2	1					6.4e-05	6.47619e-05	1	1	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119422	32119422	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr21:32119422G>A	ENST00000333892.2	-	1	129	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	33						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						agccagagccgtatccacagc	0.537000													76	22					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													8	84					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207289	58207289	+	Silent	SNP	G	G	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:58207289G>C	ENST00000302572.2	-	1	357	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	112					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)				TTGATGCCAGGAGGAAACTTT	0.443000													5	177					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724905	71724905	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:71724905C>T	ENST00000393695.3	-	15	3975	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1215Q|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1215					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTGCCGGCCCCGGGCCACCTG	0.612000			T	RARA	APL								5	179					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130270452	130270452	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:130270452G>A	ENST00000373312.3	-	12	1675	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R475W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	488							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACCTCTTCCGCACAGAGCTG	0.627000													12	110					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25335149	25335149	+	RNA	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr15:25335149C>T	ENST00000546682.1	+	0	839				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000384430.1_RNA	NR_003361.1																						TCATCCTCGTCGAACTGAGGT	0.483000													6	512					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24582557	24582557	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:24582557C>T	ENST00000535378.1	-	7	1726	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	KIAA0319_ENST00000378214.3_Missense_Mutation_p.E371K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E326K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E371K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	371	PKD 1.				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						AAATTCCATTCATAGTTGTAG	0.388000													80	176					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153128221	153128221	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:153128221G>A	ENST00000370060.1	-	29	3860	c.3671C>T	c.(3670-3672)tCg>tTg	p.S1224L	L1CAM_ENST00000370055.1_Missense_Mutation_p.S1215L|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1224L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1220L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1222L|L1CAM_ENST00000361981.3_Missense_Mutation_p.S1215L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1226L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1224			S -> L (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCAATGAACGAACCATCCTC	0.607000													56	136					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													8	81					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7774441	7774441	+	Splice_Site	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:7774441G>A	ENST00000358415.4	+	14	1953		c.e14+1		ITIH2_ENST00000379587.4_Splice_Site	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGCTGAACGGTAAGAAGAGA	0.433000													26	52					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987699	123987699	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:123987699G>A	ENST00000360013.3	+	5	687	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	KALRN_ENST00000460856.1_Missense_Mutation_p.R187Q|KALRN_ENST00000240874.3_Missense_Mutation_p.R187Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	187					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCGAACTGCGGCTCTCCCTG	0.602000													4	78					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732635	37732635	+	Silent	SNP	C	C	T	rs142192886	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:37732635C>T	ENST00000330843.4	-	3	1032	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	RAB11FIP1_ENST00000524118.1_Silent_p.P192P|RAB11FIP1_ENST00000522727.1_Silent_p.P192P|RAB11FIP1_ENST00000287263.4_Silent_p.P340P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	340					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGGAGGAGGACGGGCTGCTAT	0.532000													5	577					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													6	223					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298555	75298555	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:75298555A>G	ENST00000304771.3	-	4	2741	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.M335T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	664	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CTCAGAGACCATGGAACCTTG	0.488000													7	229					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201438253	201438253	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:201438253A>G	ENST00000357799.4	+	7	3282	c.3184A>G	c.(3184-3186)Ata>Gta	p.I1062V		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1062					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGTGGAAGAAATAAAAGAAGG	0.378000													82	133					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120021	103120021	+	Silent	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:103120021T>C	ENST00000295269.4	+	3	1292	c.835T>C	c.(835-837)Ttg>Ctg	p.L279L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	279					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						TGGAGGGGTATTGTTTGGCAT	0.398000													65	94					0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242594686	242594686	+	Splice_Site	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:242594686C>A	ENST00000405546.3	+	6	888	c.386C>A	c.(385-387)gCg>gAg	p.A129E	ATG4B_ENST00000402096.1_Splice_Site_p.A55E|ATG4B_ENST00000404914.3_Splice_Site_p.A129E|ATG4B_ENST00000396411.3_Splice_Site_p.A55E|ATG4B_ENST00000474739.2_Splice_Site_p.A115E			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	129					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TTCCCTGCAGCGCAAATGGGA	0.597000													3	23					0.150653	0.150653	1	1	0
SERPINB5	5268	broad.mit.edu	37	18	61160386	61160386	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr18:61160386A>G	ENST00000489441.1	+	5	720	c.625A>G	c.(625-627)Agg>Ggg	p.R209G	SERPINB5_ENST00000464346.1_Intron|SERPINB5_ENST00000382771.4_Intron			P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	0					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GAAAAATGATAGGGACAGAGT	0.453000													47	52					0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248651994	248651994	+	Silent	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:248651994C>A	ENST00000366473.2	+	1	110	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			GTGTGGTCATCTTTGTGGTTT	0.488000													9	332					1.41608e-15	1.52363e-15	1	1	0
TBC1D4	9882	broad.mit.edu	37	13	75861079	75861079	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:75861079C>T	ENST00000377636.3	-	21	4092	c.3746G>A	c.(3745-3747)cGg>cAg	p.R1249Q	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R1186Q|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R1241Q|TBC1D4_ENST00000425511.1_Missense_Mutation_p.R413Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1249						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCCAGGGTCCGGATTAAAGA	0.458000													5	261					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289340	62289340	+	Silent	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:62289340G>A	ENST00000378024.4	-	5	12823	c.12549C>T	c.(12547-12549)gaC>gaT	p.D4183D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4183					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)				TTAAGTGCCAGTCTGGGCCTT	0.542000													217	424					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2854890	2854890	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:2854890T>C	ENST00000545496.1	-	11	1670	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R	ARSE_ENST00000540563.1_Missense_Mutation_p.Q390R|ARSE_ENST00000381134.3_Missense_Mutation_p.Q435R	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	435					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGAAGGTCTTGGCCGTCAAT	0.567000													27	54					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027795	55027795	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:55027795G>T	ENST00000371336.3	+	5	1764	c.1563G>T	c.(1561-1563)caG>caT	p.Q521H	CASS4_ENST00000360314.3_Missense_Mutation_p.Q521H|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	521					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						ACCAGATGCAGACCATCTCCA	0.473000													9	127					1.12685e-05	1.154e-05	1	1	0
ANGPTL2	23452	broad.mit.edu	37	9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:129854001C>T	ENST00000373425.3	-	4	1847	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.W108*|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	410	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532000													6	508					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37857282	37857282	+	Silent	SNP	A	A	G			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:37857282A>G	ENST00000381967.4	+	13	1756	c.1656A>G	c.(1654-1656)ggA>ggG	p.G552G	PGM2_ENST00000537241.1_Silent_p.G392G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	552					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTGCTAATGGAGGCGTGGCCA	0.468000													4	149					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343000													4	89					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79734068	79734068	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:79734068G>A	ENST00000338008.5	+	3	1744	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A522T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A522T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	522					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	p.A522T(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGATGAAGGCGCAAAAAGTGG	0.353000													4	191					0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55782315	55782315	+	Silent	SNP	T	T	C			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:55782315T>C	ENST00000374941.4	+	8	1366	c.777T>C	c.(775-777)caT>caC	p.H259H	RRAGB_ENST00000262850.7_Silent_p.H287H	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	287					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GTGATGCCCATAGATTTGAGA	0.343000													46	64					0	0	1	0	0
INSL4	3641	broad.mit.edu	37	9	5231539	5231539	+	Missense_Mutation	SNP	C	C	T	rs142741438	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:5231539C>T	ENST00000239316.4	+	1	121	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	6					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGCCTGTTCCGGTCCTATCT	0.542000													14	19					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30653878	30653878	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:30653878G>A	ENST00000358107.4	-	2	303	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ccacAGAGGTGCTGCAATGCC	0.652000													12	20					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115231189	115231189	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:115231189C>A	ENST00000369538.3	-	2	342	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	AMPD1_ENST00000520113.2_Missense_Mutation_p.A103S|AMPD1_ENST00000353928.6_Missense_Mutation_p.A70S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	70					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TACCTCCTGGCTTCTGTGGAG	0.468000													7	206					2.0095e-06	2.08302e-06	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D|LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	53					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGACTTGCCGTGACCGGA	0.577000													4	167					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41723244	41723244	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr22:41723244A>T	ENST00000352645.4	+	5	577	c.320A>T	c.(319-321)aAg>aTg	p.K107M	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K107M	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	107					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						GACAGCGAGAAGGCGCTGGGC	0.632000													49	106					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100540154	100540154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:100540154delA	ENST00000457717.1	+	17	2497	c.2241delA	c.(2239-2241)ctafs	p.L747fs	MTTP_ENST00000265517.5_Frame_Shift_Del_p.L747fs|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L774fs|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	747					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)	AATCTGGACTAAAAGCCAATA	0.348													21	263	---	---	---	---					
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													8	699	---	---	---	---					
CYBA	1535	broad.mit.edu	37	16	88712527	88712527	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:88712527delT	ENST00000569359.1	-	5	382	c.366delA	c.(364-366)ctafs	p.L123fs	CYBA_ENST00000261623.3_Frame_Shift_Del_p.L123fs|CYBA_ENST00000567174.1_Frame_Shift_Del_p.L123fs			P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	123					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CACTCACCAGTAGGTAGATGC	0.701													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937737	76937740	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:76937737_76937740delTTAA	ENST00000373344.5	-	9	3222_3225	c.3008_3011delTTAA	c.(3007-3012)attaaafs	p.IK1003fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IK965fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1003					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTGTTCCATTTTAATTACTTTTTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						179	298	---	---	---	---					
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443													7	492	---	---	---	---					
