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
RPUSD1	113000	broad.mit.edu	37	16	837107	837107	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr16:837107C>G	ENST00000561734.1	-	3	622	c.379G>C	c.(379-381)Gcc>Ccc	p.A127P	RPUSD1_ENST00000007264.2_Missense_Mutation_p.A127P|RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000565809.1_Intron			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	127					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				ATGGTGTGGGCCCGGCCCTCC	0.692000													3	23					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85260938	85260938	+	Silent	SNP	C	C	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr12:85260938C>G	ENST00000266682.5	-	10	2071	c.1530G>C	c.(1528-1530)ctG>ctC	p.L510L	SLC6A15_ENST00000309283.7_Silent_p.L218L|SLC6A15_ENST00000552192.1_Silent_p.L403L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	510					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GCACAAATATCAGGCCAATAC	0.333000													3	39					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832090	79832090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr4:79832090G>T	ENST00000335016.5	+	16	2555	c.2389G>T	c.(2389-2391)Gag>Tag	p.E797*	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	797						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TGAGGAAGAAGAGGAGAAACA	0.443000													4	42					0.150653	0.152191	1	1	0
GTF3C3	9330	broad.mit.edu	37	2	197662524	197662524	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr2:197662524C>T	ENST00000263956.3	-	2	300	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	GTF3C3_ENST00000409364.3_Missense_Mutation_p.E71K	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	71						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACATACCTTCATTGACATCT	0.353000													4	45					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													6	61					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101817574	101817574	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr9:101817574G>C	ENST00000375001.3	+	34	3535	c.3112G>C	c.(3112-3114)Gaa>Caa	p.E1038Q		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1038	Triple-helical region 7 (COL7).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GTTCAAAGGTGAAAAAGGAGA	0.498000													8	82					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228402058	228402058	+	Missense_Mutation	SNP	A	A	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr1:228402058A>T	ENST00000570156.2	+	4	1516	c.1442A>T	c.(1441-1443)cAg>cTg	p.Q481L	OBSCN_ENST00000422127.1_Missense_Mutation_p.Q481L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q481L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	481	Ig-like 5.				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)				ACCATCTCCCAGTGCTGCCTG	0.687000													5	80					0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82185739	82185739	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr10:82185739G>A	ENST00000372181.1	+	3	858	c.388G>A	c.(388-390)Gga>Aga	p.G130R	FAM213A_ENST00000372185.1_Missense_Mutation_p.G119R|FAM213A_ENST00000372188.1_Missense_Mutation_p.G130R|FAM213A_ENST00000372187.5_Missense_Mutation_p.G130R	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	130						extracellular region											TTATTTCAAAGGAGAAATCTT	0.507000													9	116					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768295	121768295	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr6:121768295G>A	ENST00000282561.3	+	2	459	c.302G>A	c.(301-303)cGa>cAa	p.R101Q		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	101					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	p.R101Q(1)		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)	TATGTGATGCGAAAGGAAGAG	0.443000													11	68					0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110836682	110836682	+	Silent	SNP	A	A	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr5:110836682A>G	ENST00000502322.1	-	5	629	c.415T>C	c.(415-417)Tta>Cta	p.L139L	STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000512160.1_Intron|STARD4_ENST00000509887.1_3'UTR|STARD4_ENST00000296632.3_Intron			Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	0	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		AAAAAGCATAACATGTTGAGA	0.333000													7	92					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300512	88300512	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr11:88300512G>A	ENST00000418177.2	-	8	2706	c.2339C>T	c.(2338-2340)aCg>aTg	p.T780M	GRM5_ENST00000455756.2_Missense_Mutation_p.T780M|GRM5_ENST00000393297.1_Missense_Mutation_p.T780M|GRM5_ENST00000305432.5_Missense_Mutation_p.T780M|GRM5_ENST00000305447.4_Missense_Mutation_p.T780M			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	780					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AATGCAGGTCGTGTACATTGT	0.453000													11	151					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40904710	40904710	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:40904710C>T	ENST00000291825.7	-	6	466	c.198G>A	c.(196-198)ctG>ctA	p.L66L	PRX_ENST00000324001.7_Silent_p.L66L	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	66	PDZ.				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)			CTCGGGCACTCAGCAGCTGGT	0.647000													13	50					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33424243	33424243	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr6:33424243C>T	ENST00000395064.2	+	2	1634	c.1366C>T	c.(1366-1368)Cac>Tac	p.H456Y		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TTTTCTCCGCCACCGGGACCT	0.577000													8	118					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112221	44112221	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr10:44112221T>C	ENST00000361807.3	+	5	924	c.730T>C	c.(730-732)Tgt>Cgt	p.C244R	ZNF485_ENST00000374437.2_Missense_Mutation_p.C153R|ZNF485_ENST00000374435.3_Missense_Mutation_p.C244R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						ACCCTACAAATGTAATGACTG	0.403000													6	59					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531421	140531421	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr5:140531421G>A	ENST00000231136.1	+	1	1583	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		528	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.657000													9	131					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52544511	52544511	+	Silent	SNP	G	G	C			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr3:52544511G>C	ENST00000321725.6	+	25	2851	c.2775G>C	c.(2773-2775)gtG>gtC	p.V925V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	925	EGF-like 8.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCAGCTATGTGGGCCCCGGGC	0.627000													4	33					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62888910	62888910	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr12:62888910G>A	ENST00000393630.3	+	4	809	c.418G>A	c.(418-420)Gat>Aat	p.D140N	MON2_ENST00000280379.6_Missense_Mutation_p.D140N|MON2_ENST00000393629.2_Missense_Mutation_p.D140N|MON2_ENST00000552738.1_Missense_Mutation_p.D140N|MON2_ENST00000552115.1_Missense_Mutation_p.D140N|MON2_ENST00000549378.1_Intron|MON2_ENST00000393632.2_Missense_Mutation_p.D140N|MON2_ENST00000546600.1_Missense_Mutation_p.D140N	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	140					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGTAGTTCATGATGAGGCACT	0.368000													7	57					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65009291	65009291	+	Missense_Mutation	SNP	A	A	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr14:65009291A>G	ENST00000247207.6	+	1	2106	c.1724A>G	c.(1723-1725)gAc>gGc	p.D575G	HSPA2_ENST00000394709.1_Missense_Mutation_p.D575G	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	575					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AAGATCCTCGACAAGTGTCAG	0.488000													9	111					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901333	40901333	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:40901333C>A	ENST00000324001.7	-	7	3196	c.2926G>T	c.(2926-2928)Gag>Tag	p.E976*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	976					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)			CCTTTGGCCTCAGCCTCAGCC	0.642000													24	97					2.39556e-15	2.75768e-15	1	1	0
NMNAT2	23057	broad.mit.edu	37	1	183221827	183221827	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr1:183221827C>T	ENST00000287713.6	-	11	1207	c.873G>A	c.(871-873)ccG>ccA	p.P291P	NMNAT2_ENST00000294868.4_Silent_p.P286P	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	291					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AGTCGATGACCGGCTGGGACA	0.567000													7	103					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652090	121652090	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr7:121652090C>T	ENST00000393386.2	+	12	3401	c.2990C>T	c.(2989-2991)tCt>tTt	p.S997F	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	997					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGGGAATGGTCTGGAGCCTCT	0.448000													5	99					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902245	40902245	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:40902245C>G	ENST00000324001.7	-	7	2284	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	672	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				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)			ACAGCCATCTCAGGCATTTTA	0.582000													54	196					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262209	15262209	+	Silent	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr12:15262209G>A	ENST00000256953.2	-	5	771	c.435C>T	c.(433-435)taC>taT	p.Y145Y	RERG_ENST00000546331.1_Silent_p.Y126Y|RERG_ENST00000536465.1_Silent_p.Y145Y|RERG_ENST00000538313.1_Silent_p.Y145Y	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	145					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CAGAGCACTCGTAAAAAGCAC	0.522000													5	126					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40317619	40317619	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr17:40317619C>T	ENST00000264661.3	-	11	2265	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	KCNH4_ENST00000607371.1_Missense_Mutation_p.D645N	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	645					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTTCACATCAGCACTGGTC	0.607000													6	64					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46125878	46125878	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr4:46125878C>T	ENST00000295452.4	-	1	220	c.53G>A	c.(52-54)aGt>aAt	p.S18N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	18					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)		CACCCCTCTACTTTGACTCCG	0.453000													5	42					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017169	109017169	+	Silent	SNP	G	G	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr12:109017169G>T	ENST00000388962.3	-	3	1044	c.885C>A	c.(883-885)gtC>gtA	p.V295V	SELPLG_ENST00000550948.1_Silent_p.V305V|SELPLG_ENST00000228463.6_Silent_p.V321V	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	305					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTGGGTAGTTGACGGACAAAT	0.532000													6	63					0.00116845	0.00121764	1	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140751680	140751680	+	Silent	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr5:140751680G>A	ENST00000576222.1	+	1	1850	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCTCTGCGCTCTTCGATA	0.647000													8	82					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190728574	190728574	+	Missense_Mutation	SNP	A	A	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr2:190728574A>G	ENST00000441310.2	+	10	2195	c.1962A>G	c.(1960-1962)atA>atG	p.I654M	PMS1_ENST00000447232.2_Intron|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.I615M|PMS1_ENST00000432292.3_Missense_Mutation_p.I478M|PMS1_ENST00000418224.3_Missense_Mutation_p.I478M	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	654					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)			GAAAAAAGATAAAACCCACCA	0.383000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					5	81					0	0	1	0	0
DRG1	4733	broad.mit.edu	37	22	31823154	31823154	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr22:31823154C>T	ENST00000331457.4	+	8	1151	c.990C>T	c.(988-990)atC>atT	p.I330I		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	330					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						AAAATCTTATCAAAGAATTTA	0.383000													6	67					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233105693	233105693	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr1:233105693C>T	ENST00000366627.4	+	4	404	c.333C>T	c.(331-333)gtC>gtT	p.V111V	NTPCR_ENST00000490098.1_3'UTR|NTPCR_ENST00000366628.4_Silent_p.V111V			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	111							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						GAGTGTGCGTCATCGATGAGA	0.507000													9	99					0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64194057	64194057	+	Silent	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr14:64194057G>A	ENST00000247225.6	-	1	700	c.606C>T	c.(604-606)taC>taT	p.Y202Y		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	202						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGGGCATGCTGTACTCAGAGT	0.612000													4	78					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5280513	5280513	+	Missense_Mutation	SNP	A	A	C			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr17:5280513A>C	ENST00000262477.6	+	14	2352	c.2128A>C	c.(2128-2130)Aaa>Caa	p.K710Q	RABEP1_ENST00000546142.2_Missense_Mutation_p.K710Q|RABEP1_ENST00000537505.1_Missense_Mutation_p.K667Q|RABEP1_ENST00000408982.2_Missense_Mutation_p.K710Q|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_Missense_Mutation_p.K710Q	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	710					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACTTTTCCTAAAAGAGCAGAT	0.398000													9	69					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259524	55259524	+	Missense_Mutation	SNP	T	T	A	rs121913444		TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr7:55259524T>A	ENST00000275493.2	+	21	2759	c.2582T>A	c.(2581-2583)cTg>cAg	p.L861Q	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L808Q|EGFR_ENST00000455089.1_Missense_Mutation_p.L816Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	861	Protein kinase.		L -> Q (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L861Q(53)|p.L861R(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGGCCAAACTGCTGGGTGCG	0.557000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	114					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885828	45885828	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:45885828G>A	ENST00000418234.2	-	12	2483	c.2405C>T	c.(2404-2406)gCg>gTg	p.A802V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A802V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	802	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCGTGCAGCGCGGCCCACCA	0.692000													4	59					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135521538	135521538	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr6:135521538G>T	ENST00000341911.5	+	13	2134	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	MYB_ENST00000442647.2_Missense_Mutation_p.K521N|MYB_ENST00000528774.1_Missense_Mutation_p.K642N|MYB_ENST00000527615.1_Missense_Mutation_p.K524N|MYB_ENST00000525369.1_Missense_Mutation_p.K439N|MYB_ENST00000316528.8_Missense_Mutation_p.K524N|MYB_ENST00000533624.1_Missense_Mutation_p.K489N|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Missense_Mutation_p.K524N|MYB_ENST00000534121.1_Missense_Mutation_p.K629N|MYB_ENST00000534044.1_Missense_Mutation_p.K524N	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCTTACTGAAGAAAATCAAAC	0.438000			T	NFIB	adenoid cystic carcinoma								9	75					0.000442599	0.000481509	1	1	0
C11orf71	54494	broad.mit.edu	37	11	114270791	114270791	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr11:114270791C>T	ENST00000325636.4	-	1	348	c.263G>A	c.(262-264)aGa>aAa	p.R88K	RBM7_ENST00000540163.1_5'UTR	NM_019021.2	NP_061894.2	Q6IPW1	CK071_HUMAN	chromosome 11 open reading frame 71	88										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		AGGTGAGAATCTGGCTTGGCG	0.607000													6	80					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13160919	13160919	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr10:13160919G>A	ENST00000378748.3	+	8	1020	c.658G>A	c.(658-660)Gat>Aat	p.D220N	OPTN_ENST00000378757.2_Missense_Mutation_p.D220N|OPTN_ENST00000378764.2_Missense_Mutation_p.D214N|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378747.3_Missense_Mutation_p.D220N|OPTN_ENST00000263036.5_Missense_Mutation_p.D220N|OPTN_ENST00000378752.3_Missense_Mutation_p.D214N	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	220					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGATCTGCAGATGGGGCCAA	0.428000													8	71					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123430750	123430750	+	Missense_Mutation	SNP	T	T	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr12:123430750T>A	ENST00000542678.1	-	6	3911	c.1073A>T	c.(1072-1074)cAg>cTg	p.Q358L	ABCB9_ENST00000442028.2_Missense_Mutation_p.Q358L|ABCB9_ENST00000392439.3_Missense_Mutation_p.Q358L|ABCB9_ENST00000280560.8_Missense_Mutation_p.Q358L|ABCB9_ENST00000346530.5_Missense_Mutation_p.Q358L|ABCB9_ENST00000442833.2_Missense_Mutation_p.Q358L|ABCB9_ENST00000540285.1_Missense_Mutation_p.Q358L|ABCB9_ENST00000344275.7_Missense_Mutation_p.Q358L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	358	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CAGGGCATTCTGGACCTCTTT	0.587000													3	30					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152546872	152546872	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr6:152546872G>A	ENST00000367255.5	-	116	21936	c.21335C>T	c.(21334-21336)gCa>gTa	p.A7112V	SYNE1_ENST00000265368.4_Missense_Mutation_p.A7112V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7041V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7041V|SYNE1_ENST00000356820.4_Missense_Mutation_p.A1636V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A6724V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7112					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTAAATTTGCCCAGGTTTG	0.458000										HNSCC(10;0.0054)			10	100					0	0	1	0	0
TCP10L	140290	broad.mit.edu	37	21	33949215	33949215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr21:33949215C>A	ENST00000300258.3	-	5	630	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CTAATTCTTTCTATCTTTAAA	0.348000													5	76					0.000602214	0.000648035	1	1	0
FAM181A	90050	broad.mit.edu	37	14	94394887	94394887	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr14:94394887G>A	ENST00000267594.5	+	3	749	c.442G>A	c.(442-444)Gat>Aat	p.D148N	FAM181A_ENST00000556222.1_Missense_Mutation_p.D86N|FAM181A_ENST00000557000.2_Missense_Mutation_p.D86N|FAM181A_ENST00000557719.1_Missense_Mutation_p.D86N	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	148										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TTTGGGCCCTGATTCCAGCCC	0.657000													5	55					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444046	20444046	+	Silent	SNP	C	C	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr14:20444046C>A	ENST00000305051.5	+	1	444	c.369C>A	c.(367-369)gcC>gcA	p.A123A		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGCCTGGCCCAGATTTTCT	0.433000													10	167					0.000673444	0.000716892	1	1	0
RB1	5925	broad.mit.edu	37	13	48941739	48941739	+	Splice_Site	SNP	G	G	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr13:48941739G>T	ENST00000267163.4	+	10	1187	c.1049_splice	c.e10+1	p.S350_splice		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	350					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTATAGACAGGTATTGCACA	0.284000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			12	67					2.80697e-09	3.19414e-09	1	1	0
AGER	177	broad.mit.edu	37	6	32150470	32150470	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr6:32150470C>G	ENST00000375076.4	-	7	798	c.697G>C	c.(697-699)Gtg>Ctg	p.V233L	AGER_ENST00000375065.5_Intron|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_Missense_Mutation_p.V249L|AGER_ENST00000375055.2_Missense_Mutation_p.V233L|AGER_ENST00000375067.3_Missense_Mutation_p.V219L|AGER_ENST00000375069.3_Missense_Mutation_p.V132L|AGER_ENST00000375070.3_Missense_Mutation_p.V264L	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	233	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCAGAGGCACAGGCTCTGGG	0.572000													7	100					0	0	1	0	0
RASSF7	8045	broad.mit.edu	37	11	563294	563294	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr11:563294G>A	ENST00000397583.3	+	4	1361	c.928G>A	c.(928-930)Gac>Aac	p.D310N	RASSF7_ENST00000431809.1_Missense_Mutation_p.D310N|RASSF7_ENST00000344375.4_Missense_Mutation_p.D310N|RASSF7_ENST00000397582.3_Missense_Mutation_p.D310N|RASSF7_ENST00000454668.2_Missense_Mutation_p.D310N	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	310	Pro-rich.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACGGCCTGACAGGGGCCC	0.677000													3	23					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62758637	62758637	+	RNA	SNP	C	C	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr17:62758637C>G	ENST00000400873.3	-	0	1308					NR_026899.1																						GTGCAAGATGCCTTCTCTTAT	0.438000													7	86					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968284	4968284	+	Missense_Mutation	SNP	C	C	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chrY:4968284C>A	ENST00000333703.4	+	5	3145	c.2632C>A	c.(2632-2634)Cca>Aca	p.P878T	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P889T|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P889T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	889					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATGGGCTACCCCAAACCCAGA	0.413000													6	45					0.217242	0.217242	1	1	0
C16orf72	29035	broad.mit.edu	37	16	9196940	9196940	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr16:9196940G>T	ENST00000327827.7	+	3	804	c.407G>T	c.(406-408)aGa>aTa	p.R136I		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	136										endometrium(4)|large_intestine(2)|lung(2)	8						AAACGCAGAAGAACTATTCGT	0.453000													8	85					1.12685e-05	1.23954e-05	1	1	0
DDX60	55601	broad.mit.edu	37	4	169183235	169183235	+	Silent	SNP	G	G	A	rs139933445	byFrequency	TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr4:169183235G>A	ENST00000393743.3	-	24	3480	c.3189C>T	c.(3187-3189)gtC>gtT	p.V1063V	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1063							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCTTTTTAATGACTAATTTAT	0.313000													5	47					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	61					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287121	62287121	+	Nonsense_Mutation	SNP	A	A	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr11:62287121A>T	ENST00000378024.4	-	5	15042	c.14768T>A	c.(14767-14769)tTg>tAg	p.L4923*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4923					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)				CTTGAGATGCAAATCAACATC	0.468000													8	116					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71576524	71576524	+	Missense_Mutation	SNP	T	T	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr14:71576524T>A	ENST00000304743.2	+	36	7344	c.6898T>A	c.(6898-6900)Tgg>Agg	p.W2300R	PCNX_ENST00000238570.5_Missense_Mutation_p.W2228R|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.W2189R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2300						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATTCACCGATGGGTGCCTTG	0.438000													5	72					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31595111	31595111	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr2:31595111C>T	ENST00000379416.3	-	17	1887	c.1839G>A	c.(1837-1839)cgG>cgA	p.R613R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	613					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGCGTGGGCCCGGGTGCTGG	0.617000													7	142					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825524	21825524	+	RNA	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr17:21825524C>T	ENST00000426869.3	+	0	228					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		aggcagagtccggggaagcag	0.642000													6	70					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902269	40902269	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:40902269C>T	ENST00000324001.7	-	7	2260	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	664	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				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)			AGTTTCATCTCTGGGACTTTC	0.577000													46	214					0	0	1	0	0
ALG1L2	644974	broad.mit.edu	37	3	129813301	129813301	+	RNA	SNP	G	G	A	rs4610271	by1000genomes	TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr3:129813301G>A	ENST00000507643.1	+	0	447							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										AGCATTTCCAGCACATCCAGG	0.612000													4	54					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665896	20665896	+	Silent	SNP	C	C	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr14:20665896C>A	ENST00000357366.3	+	1	402	c.402C>A	c.(400-402)ggC>ggA	p.G134G		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	134					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)		CGTTCTCTGGCTGCTTCCTCC	0.493000													5	47					0.00116845	0.00121764	1	1	0
GTPBP3	84705	broad.mit.edu	37	19	17450397	17450397	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:17450397C>T	ENST00000324894.8	+	7	1031	c.963C>T	c.(961-963)cgC>cgT	p.R321R	GTPBP3_ENST00000600625.1_Silent_p.R321R|GTPBP3_ENST00000361619.5_Silent_p.R343R|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Silent_p.R353R	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	321					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCGTGCGGCGCGCCCGGGAGA	0.652000													3	18					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071325	197071325	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr1:197071325C>G	ENST00000367409.4	-	18	7312	c.7056G>C	c.(7054-7056)atG>atC	p.M2352I	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2352	IQ 23.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCTGATATCTCATATGTAATC	0.433000													8	147					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116748	161116748	+	Silent	SNP	A	A	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr5:161116748A>T	ENST00000523217.1	+	6	848	c.606A>T	c.(604-606)ggA>ggT	p.G202G	GABRA6_ENST00000274545.5_Silent_p.G212G	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	212					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)	ATCTGATTGGACAAACAGTAT	0.373000										TCGA Ovarian(5;0.080)			5	60					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69706132	69706132	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr2:69706132G>C	ENST00000409085.4	-	20	3007	c.2631C>G	c.(2629-2631)gaC>gaG	p.D877E	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	877						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CTTCCAGAAGGTCAGTAGTAG	0.493000													6	73					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42992224	42992224	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr22:42992224C>G	ENST00000252115.5	-	5	885	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	POLDIP3_ENST00000451060.2_Missense_Mutation_p.E105Q|POLDIP3_ENST00000348657.2_Missense_Mutation_p.E232Q|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	261					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGGGGTTCTTCCTTGTTCACC	0.517000													4	72					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201778068	201778068	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr2:201778068G>A	ENST00000234296.2	-	17	1846	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	533					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						AACTGGGCCCGGAGTGTCAGA	0.423000													6	83					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689060	27689060	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr16:27689060G>T	ENST00000261588.4	+	7	570	c.551G>T	c.(550-552)aGa>aTa	p.R184I	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	184										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAGCTGAGAAGAAGCCTGGAA	0.378000													3	42					0.115264	0.117641	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47552223	47552223	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr21:47552223C>T	ENST00000300527.4	+	28	2921	c.2817C>T	c.(2815-2817)caC>caT	p.H939H		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	939	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGAGGCACGCAGAGCTGT	0.657000													4	26					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577509	7577509	+	Nonsense_Mutation	SNP	C	C	A	rs121912652		TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr17:7577509C>A	ENST00000420246.2	-	7	904	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E258*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E258*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E258*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E258*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E258*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E258K(40)|p.E258*(15)|p.E258Q(9)|p.0?(8)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.T256fs*87(1)|p.E258L(1)|p.E258fs*87(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)		CTGGAGTCTTCCAGTGTGATG	0.587000		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)			7	30					1.06961e-07	1.20331e-07	1	1	0
CPA1	1357	broad.mit.edu	37	7	130021012	130021012	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr7:130021012C>T	ENST00000011292.3	+	2	289	c.139C>T	c.(139-141)Cac>Tac	p.H47Y	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	47					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GGACCTGGAGCACCTGCAGGT	0.642000													3	23					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903848	40903848	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:40903848C>G	ENST00000324001.7	-	7	681	c.411G>C	c.(409-411)aaG>aaC	p.K137N	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	137	Arg/Lys-rich (basic).				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)			CCATCTTCTTCTTCTTCACAG	0.637000													4	10					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2026955	2026955	+	Missense_Mutation	SNP	A	A	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr16:2026955A>T	ENST00000568546.1	+	14	1561	c.1433A>T	c.(1432-1434)cAt>cTt	p.H478L		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	478					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAGCGCTGCCATGATAAGGTG	0.607000													13	82					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164785184	164785184	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr3:164785184C>T	ENST00000264382.3	-	6	641	c.579G>A	c.(577-579)aaG>aaA	p.K193K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	193	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTGGGCAACCTTCACATCAT	0.313000										HNSCC(35;0.089)			12	58					0	0	1	0	0
SPATA25	128497	broad.mit.edu	37	20	44515573	44515573	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr20:44515573G>C	ENST00000372519.3	-	2	311	c.267C>G	c.(265-267)aaC>aaG	p.N89K		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	89						integral to membrane											ATTTGTGGCAGTTTCGGCTGT	0.642000													26	190					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134680696	134680696	+	Missense_Mutation	SNP	A	A	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chrX:134680696A>T	ENST00000370752.4	+	5	833	c.499A>T	c.(499-501)Agg>Tgg	p.R167W	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	167	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGGATCAAAGGTTATTTGC	0.468000													4	67					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754865	54754865	+	Silent	SNP	A	A	G	rs62133136	by1000genomes	TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:54754865A>G	ENST00000450632.1	-	13	1847	c.1770T>C	c.(1768-1770)ctT>ctC	p.L590L	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	406					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)		CTGGAGAGGAAAGGACTCTCT	0.607000													3	19					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68543401	68543401	+	Silent	SNP	T	T	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr4:68543401T>A	ENST00000322244.4	-	6	452	c.393A>T	c.(391-393)ccA>ccT	p.P131P	UBA6_ENST00000420827.2_Silent_p.P131P	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	131					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						CATGAACGTATGGATTTAGTT	0.299000													7	62					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422058	47422058	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:47422058C>T	ENST00000404338.3	+	1	126	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	42					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GCAACCGCTTCGTGCGCCCGA	0.522000													5	77					0	0	1	0	0
GADD45B	4616	broad.mit.edu	37	19	2477067	2477067	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:2477067G>A	ENST00000215631.4	+	3	419	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GADD45B_ENST00000587345.1_Missense_Mutation_p.E63K	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	63					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	4		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)		GGCCATTGACGAGGAGGAGGA	0.622000											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	31					0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4510772	4510772	+	Missense_Mutation	SNP	G	G	A	rs113952457	byFrequency	TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr17:4510772G>A	ENST00000389313.4	+	8	1443	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R315H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	459										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CACCTGCGTCGCTTCGAGTAA	0.627000													11	144					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815495	167815495	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr1:167815495G>T	ENST00000367848.1	-	20	2665	c.2168C>A	c.(2167-2169)tCt>tAt	p.S723Y	ADCY10_ENST00000367851.4_Missense_Mutation_p.S815Y|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.S662Y			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	815					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						CTGGATCAGAGAGATTTCTGC	0.428000													6	135					0.0215528	0.0222263	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130398311	130398311	+	Nonsense_Mutation	SNP	T	T	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr3:130398311T>A	ENST00000356763.3	-	20	4482	c.3925A>T	c.(3925-3927)Aaa>Taa	p.K1309*		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1309					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGTCCTACTTTCTGCTTATTC	0.488000													6	71					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41222993	41222993	+	Silent	SNP	G	G	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr17:41222993G>A	ENST00000309486.4	-	14	5077	c.4050C>T	c.(4048-4050)gtC>gtT	p.V1350V	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Silent_p.V542V|BRCA1_ENST00000352993.3_Silent_p.V504V|BRCA1_ENST00000357654.3_Silent_p.V1646V|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000468300.1_Silent_p.V542V|BRCA1_ENST00000351666.3_Silent_p.V463V|BRCA1_ENST00000471181.2_Silent_p.V1667V|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Silent_p.V137V|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Silent_p.V1599V	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1646					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTTTTGTTGACCCTTTCTG	0.443000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			9	98					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43798926	43798926	+	Missense_Mutation	SNP	A	A	C			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr2:43798926A>C	ENST00000403856.1	-	14	2131	c.1984T>G	c.(1984-1986)Tgg>Ggg	p.W662G	THADA_ENST00000404790.1_Missense_Mutation_p.W662G|THADA_ENST00000402360.2_Missense_Mutation_p.W662G|THADA_ENST00000415080.2_Missense_Mutation_p.W372G|THADA_ENST00000405975.2_Missense_Mutation_p.W662G|THADA_ENST00000405006.4_Missense_Mutation_p.W662G|THADA_ENST00000330266.7_Missense_Mutation_p.W372G			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	662							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACTGAATCCACTGCATTTCT	0.373000													9	101					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81225672	81225672	+	Missense_Mutation	SNP	C	C	A			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr15:81225672C>A	ENST00000394685.3	+	23	3299	c.2880C>A	c.(2878-2880)gaC>gaA	p.D960E	KIAA1199_ENST00000220244.3_Missense_Mutation_p.D960E|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.D960E			Q8WUJ3	K1199_HUMAN	KIAA1199	960										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGTTCCATGACGTCGACGGCT	0.557000													8	82					5.18039e-06	5.76246e-06	1	1	0
PRX	57716	broad.mit.edu	37	19	40904689	40904689	+	Silent	SNP	C	C	T			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr19:40904689C>T	ENST00000291825.7	-	6	487	c.219G>A	c.(217-219)gaG>gaA	p.E73E	PRX_ENST00000324001.7_Silent_p.E73E	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	73	PDZ.				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)			ACTTGAAGTTCTCGAAGAACA	0.652000													15	56					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142839788	142839789	+	Frame_Shift_Ins	INS	-	-	C			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr3:142839788_142839789insC	ENST00000309575.3	+	2	1514_1515	c.130_131insC	c.(130-132)cccfs	p.P44fs		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	44					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CTGGCCCGCGTCCCCTCTCGGA	0.708													2	4	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							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)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---					
ZNF408	79797	broad.mit.edu	37	11	46723022	46723025	+	Frame_Shift_Del	DEL	CGTC	CGTC	-	rs141693807	byFrequency	TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr11:46723022_46723025delCGTC	ENST00000311764.2	+	2	356_359	c.126_129delCGTC	c.(124-129)gafs	p.DV42fs		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTCAAAGACGTCCCACCCGAGC	0.647													7	120	---	---	---	---					
SUGT1P3	283507	broad.mit.edu	37	13	41486862	41486862	+	RNA	DEL	A	A	-			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr13:41486862delA	ENST00000304932.4	-	0	214					NR_003365.2																						cgtctctactaaaaaaaaaat	0.517													2	4	---	---	---	---					
CHD6	84181	broad.mit.edu	37	20	40049168	40049169	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-93-A4JP-01A-11D-A24P-08	TCGA-93-A4JP-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608b7934-eabb-4729-80f5-b93417d7b649	53dfaa25-fdbc-4be9-a628-0d9c4868e31d	g.chr20:40049168_40049169delTC	ENST00000373233.3	-	31	6283_6284	c.6106_6107delGA	c.(6106-6108)cfs	p.D2036fs		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2036					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)				GCAGTTTCCGTCTCTATCATAA	0.436													11	100	---	---	---	---