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
LRRK2	120892	broad.mit.edu	37	12	40760879	40760879	+	Splice_Site	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:40760879G>A	uc001rmg.4	+	50	7583	c.7462_splice	c.e50+1	p.E2488_splice	LRRK2_uc009zjw.3_Splice_Site_p.E1326_splice|LRRK2_uc001rmi.3_3'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2488					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGCAGAAAGGTAACATTTA	0.318000													18	32					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557510	210557510	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:210557510A>C	uc002vde.1	+	6	864	c.616A>C	c.(616-618)Act>Cct	p.T206P	MAP2_uc002vdc.1_Missense_Mutation_p.T206P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T202P	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	206					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GACAACTAAAACTTACCCTGA	0.458000													20	39					0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745259	135745259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:135745259G>A	uc002tue.1	-	6	1214	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Nonsense_Mutation_p.Q282*|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Nonsense_Mutation_p.Q123*|YSK4_uc002tui.4_Nonsense_Mutation_p.Q412*	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	395							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGGGTTTCTTGGAACTTGCTT	0.343000													19	72					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr15:78211517C>G	uc010bky.2	-	10	1014	c.250G>C	c.(250-252)Gtc>Ctc	p.V84L						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TTGCTCAGGACACTCAAGGCC	0.557000													5	275					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014760	75014760	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr15:75014760C>T	uc002ayp.4	-	1	801	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	CYP1A1_uc010bjy.3_Missense_Mutation_p.V227M|CYP1A1_uc010bju.3_5'UTR|CYP1A1_uc010bjv.3_Intron|CYP1A1_uc010bjw.3_Intron|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Missense_Mutation_p.V227M|CYP1A1_uc010bjz.1_5'UTR	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	227					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GAGCCAACCACCTCCCCGAAA	0.493000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				20	119					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555262	44555262	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:44555262C>T	uc010xdb.2	-	0	1188	c.952G>A	c.(952-954)Gct>Act	p.A318T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	318	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCATCTTAGCGTTCACTCTG	0.652000													35	328					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356963	149356963	+	Silent	SNP	A	A	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:149356963A>G	uc003ilj.4	-	1	1413	c.1050T>C	c.(1048-1050)gcT>gcC	p.A350A	NR3C2_uc003ilk.4_Silent_p.A350A|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	350	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TACTGGATCCAGCAGAGGTGC	0.522000													25	67					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081584	194081584	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:194081584C>T	uc003ftt.3	-	2	332	c.207G>A	c.(205-207)acG>acA	p.T69T	LRRC15_uc003ftu.3_Silent_p.T63T|LRRC15_uc021xiy.1_Silent_p.T63T	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	63						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAGTGATGTGCGTGTTGAGGA	0.612000													27	60					0	0	1	0	0
C19orf6	91304	broad.mit.edu	37	19	1011423	1011423	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:1011423G>A	uc002lqr.1	-	8	1306	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	FLJ00277_uc002lqp.1_5'Flank|C19orf6_uc021ume.1_5'Flank|C19orf6_uc002lqs.1_Missense_Mutation_p.A387V	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	387						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		ATACTGGTCCGCGAGCCACAC	0.652000													3	4					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698525	103698525	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr13:103698525C>T	uc001vpy.4	-	5	1602	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCTTATAAAACGATGACTCTG	0.368000													24	30					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43896265	43896265	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr15:43896265T>C	uc001zsf.3	-	21	4382	c.4304A>G	c.(4303-4305)gAg>gGg	p.E1435G	STRC_uc010bdl.3_Missense_Mutation_p.E662G|STRC_uc001zse.3_5'UTR	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1435					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAGCTGTGGCTCCCTACACAG	0.557000													6	20					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30236898	30236898	+	Silent	SNP	C	C	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:30236898C>A	uc022buf.1	+	0	201	c.201C>A	c.(199-201)acC>acA	p.T67T	MAGEB2_uc004dbz.3_Silent_p.T67T	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	67							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGCCCCAACCACTGCCGCTG	0.562000													5	9					0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63410058	63410058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:63410058G>A	uc022byb.1	-	0	3109	c.3109C>T	c.(3109-3111)Cag>Tag	p.Q1037*	FAM123B_uc004dvo.3_Nonsense_Mutation_p.Q1037*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	1037	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GCCTGTGGCTGGAGGTTATAG	0.597000													3	21					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22278135	22278135	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr16:22278135G>A	uc002dki.3	+	14	2187	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	568					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGAGGCCATCGTGGGCCTGGG	0.652000													18	64					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr20:29625885A>T	uc010ztl.1	+	1	71	c.39A>T	c.(37-39)aaA>aaT	p.K13N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.K43N(2)|p.V12V(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													4	148					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38050773	38050773	+	Silent	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:38050773G>A	uc003chm.3	-	9	2013	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	PLCD1_uc003chn.3_Silent_p.L532L	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	532	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGATTCTTGGAGCAGTCGAA	0.612000													27	126					0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25627530	25627530	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:25627530G>A	uc009vro.3	+	3	638	c.580G>A	c.(580-582)Gga>Aga	p.G194R	C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Missense_Mutation_p.G194R|RHD_uc001bjz.3_Missense_Mutation_p.G194R|RHD_uc001bkc.3_Missense_Mutation_p.G194R|RHD_uc009vrm.3_Missense_Mutation_p.G26R|RHD_uc001bka.3_Missense_Mutation_p.G194R|RHD_uc001bkb.3_Missense_Mutation_p.G194R|RHD_uc009vrn.3_Missense_Mutation_p.G194R|RHD_uc009vrp.3_Missense_Mutation_p.G194R			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	194						integral to plasma membrane		p.E193K(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTACCCGAGGGAACGGAGGA	0.532000													48	46					0	0	1	0	0
PGM3	5238	broad.mit.edu	37	6	83896756	83896756	+	Missense_Mutation	SNP	C	C	T	rs80024877		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:83896756C>T	uc011dyz.2	-	4	681	c.512G>A	c.(511-513)gGt>gAt	p.G171D	PGM3_uc003pju.2_Missense_Mutation_p.G143D|PGM3_uc003pjw.3_Missense_Mutation_p.G62D|PGM3_uc021zcd.1_Missense_Mutation_p.G143D	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	143					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AACAGTCACACCATCTATTAC	0.343000													10	13					0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167379743	167379743	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:167379743C>A	uc010jjd.3	+	3	863	c.863C>A	c.(862-864)gCg>gAg	p.A288E	ODZ2_uc021yhi.1_Missense_Mutation_p.A218E|ODZ2_uc003lzq.2_Missense_Mutation_p.A167E|ODZ2_uc003lzr.4_Missense_Mutation_p.A97E	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.R288Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCGGCCCCAGCGCCCAATGAC	0.622000													6	15					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591785	125591785	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:125591785G>T	uc010inw.3	-	3	3685	c.2647C>A	c.(2647-2649)Cct>Act	p.P883T	ANKRD50_uc011cgo.2_Missense_Mutation_p.P704T	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	883										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AATATGAAAGGGATTCGTCCA	0.373000													24	90					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17130272	17130272	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:17130272C>T	uc001ioo.3	-	14	1890	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	613	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P612S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAATCTCTTCCTGGGGGATA	0.443000													6	56					0	0	1	0	0
FNDC5	252995	broad.mit.edu	37	1	33333378	33333378	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:33333378C>T	uc001bwg.3	-	3	465	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	FNDC5_uc001bwe.3_5'Flank|FNDC5_uc021okv.1_Missense_Mutation_p.V84I|FNDC5_uc001bwf.2_Missense_Mutation_p.V84I	NM_001171941	NP_001165412	Q8NAU1	FNDC5_HUMAN	Homo sapiens fibronectin type III domain containing 5 (FNDC5), transcript variant 1, mRNA.	143	Fibronectin type-III.					integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGACCACGACGATGATCAGC	0.552000													37	23					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54681910	54681910	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:54681910G>A	uc001cxa.4	+	5	1164	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	MRPL37_uc009vzp.3_Missense_Mutation_p.D232N	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	363					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GAATACCACAGACCTGGACTG	0.512000													30	49					0	0	1	0	0
ANXA5	308	broad.mit.edu	37	4	122590823	122590823	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:122590823A>C	uc003idu.4	-	10	907	c.837T>G	c.(835-837)atT>atG	p.I279M	ANXA5_uc003idv.4_Missense_Mutation_p.I279M	NM_001154	NP_001145	P08758	ANXA5_HUMAN	Homo sapiens annexin A5 (ANXA5), mRNA.	279				I -> T (in Ref. 13; AAH18671).	anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TAAACAGATCAATCTCACTCC	0.358000													24	52					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729358	35729358	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:35729358T>C	uc011axy.2	+	4	601	c.389T>C	c.(388-390)aTc>aCc	p.I130T	ARPP21_uc003cga.3_Missense_Mutation_p.I130T|ARPP21_uc003cgb.3_Missense_Mutation_p.I130T|ARPP21_uc003cgf.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	130						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAACCCAAGATCAGAATGTTA	0.338000													69	99					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767358	73767358	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:73767358A>T	uc001jsn.3	+	2	1009	c.569A>T	c.(568-570)gAc>gTc	p.D190V	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	190					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GTGTACCGCGACGTGCTCAAG	0.652000													5	26					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9012504	9012504	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:9012504C>A	uc002mkp.3	-	34	38906	c.38702G>T	c.(38701-38703)gGc>gTc	p.G12901V	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12903	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACAGAAGGCCGACACTGGT	0.537000													40	106					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99106175	99106175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:99106175C>T	uc001tfz.3	+	20	3497	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	APAF1_uc001tfy.3_Nonsense_Mutation_p.Q963*|APAF1_uc001tga.3_Nonsense_Mutation_p.Q920*|APAF1_uc001tgb.3_Nonsense_Mutation_p.Q931*|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Nonsense_Mutation_p.Q340*	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	974					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCACATCTTCAGTACATTGC	0.348000													16	14					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189854844	189854844	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:189854844G>A	uc002uqj.1	+	8	830	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	238	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R238*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGACCCGGACGACCTGGAGAG	0.388000													13	29					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425585	65425585	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:65425585C>T	uc003dmn.3	-	8	1765	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_uc003dmm.3_Silent_p.Q413Q|MAGI1_uc003dmo.3_Silent_p.Q413Q|MAGI1_uc003dmp.3_Silent_p.Q413Q|MAGI1_uc010hny.2_Silent_p.Q298Q|MAGI1_uc021xac.1_Silent_p.Q414Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	413	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	159					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60609112	60609112	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:60609112T>A	uc021ule.1	+	10	3367	c.3122T>A	c.(3121-3123)cTt>cAt	p.L1041H		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1041					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TTGAAGATCCTTCACATGGCC	0.408000													20	18					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158621165	158621165	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:158621165T>A	uc001fst.1	-	23	3668	c.3469A>T	c.(3469-3471)Atc>Ttc	p.I1157F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1157					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTGCCGGATTTGAGCTCCT	0.453000													87	134					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613108	48613108	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:48613108C>T	uc003ctz.2	-	71	5931	c.5930G>A	c.(5929-5931)cGt>cAt	p.R1977H		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1977	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGCCTCGACGCCGTTCGGG	0.652000													23	90					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135298	33135298	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:33135298C>T	uc003ocx.1	-	55	4255	c.4027G>A	c.(4027-4029)Gct>Act	p.A1343T	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.A1257T|COL11A2_uc003ocz.1_Missense_Mutation_p.A1236T	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1343	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCACCTATAGCGCCAGGATCT	0.652000													20	25					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77407599	77407599	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:77407599A>C	uc004ajl.1	-	18	2717	c.2479T>G	c.(2479-2481)Tgg>Ggg	p.W827G	TRPM6_uc004ajk.1_Missense_Mutation_p.W822G|TRPM6_uc022bib.1_Missense_Mutation_p.W822G|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	827					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCCTGGTCCACGGAAGGTGT	0.388000													20	24					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216390848	216390848	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:216390848G>A	uc001hku.1	-	14	3425	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I	USH2A_uc001hkv.3_Missense_Mutation_p.T1013I	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1013	Laminin EGF-like 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGTGACAGGTTTCATTCAA	0.398000										HNSCC(13;0.011)			26	26					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87882875	87882875	+	Missense_Mutation	SNP	C	C	T	rs143951992		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:87882875C>T	uc001pcj.2	-	1	534	c.451G>A	c.(451-453)Ggt>Agt	p.G151S		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	151					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCTACGAAACCGTGCTCCTTG	0.413000													22	109					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114919686	114919686	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:114919686C>T	uc021pyi.1	+	13	1884	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	TCF7L2_uc001lah.3_Silent_p.S441S|TCF7L2_uc010qro.2_Intron|TCF7L2_uc001lae.4_Intron|TCF7L2_uc010qrm.2_Intron|TCF7L2_uc010qrn.2_Intron|TCF7L2_uc021pyg.1_Silent_p.S175S|TCF7L2_uc021pyh.1_Intron|TCF7L2_uc021pyj.1_Intron|TCF7L2_uc021pyk.1_Intron|TCF7L2_uc021pyl.1_Intron|TCF7L2_uc010qrp.2_Silent_p.S436S|TCF7L2_uc021pym.1_Intron|TCF7L2_uc021pyn.1_Intron|TCF7L2_uc021pyo.1_Intron|TCF7L2_uc021pyp.1_Intron|TCF7L2_uc010qrq.2_Silent_p.S432S|TCF7L2_uc001lac.4_Silent_p.S436S|TCF7L2_uc010qrk.2_Intron|TCF7L2_uc001lad.4_Intron|TCF7L2_uc001lag.4_Intron|TCF7L2_uc001laf.4_Silent_p.S419S|TCF7L2_uc010qrl.2_Intron|TCF7L2_uc010qrr.2_Intron|TCF7L2_uc010qrs.2_Silent_p.S330S|TCF7L2_uc010qrt.2_Intron|TCF7L2_uc010qru.2_Intron|TCF7L2_uc010qrv.2_Silent_p.S276S|TCF7L2_uc010qrw.2_Silent_p.S163S|TCF7L2_uc010qrx.2_Silent_p.S316S	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	459	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGACCTGAGCGCTCCTAAGA	0.542000			T	VTI1A	colorectal								23	21					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5471142	5471142	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:5471142C>G	uc001iia.3	+	2	343	c.205C>G	c.(205-207)Cgc>Ggc	p.R69G	NET1_uc010qar.2_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	69	Necessary for nuclear localization (By similarity).				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	p.S68*(1)|p.R69C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GAAAAGAAAACGCAGAGAGAA	0.323000													6	113					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44124455	44124455	+	Silent	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:44124455T>C	uc001rns.4	-	8	1910	c.1830A>G	c.(1828-1830)gtA>gtG	p.V610V	PUS7L_uc001rnq.4_Silent_p.V610V|PUS7L_uc001rnr.4_Silent_p.V610V|PUS7L_uc009zkb.3_Silent_p.V297V	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	610	TRUD.				pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACCACTGCCCTACTTTGTTCT	0.383000													30	33					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153250867	153250867	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:153250867G>A	uc003ims.3	-	7	1355	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	FBXW7_uc011cii.2_Missense_Mutation_p.S398F|FBXW7_uc003imt.3_Missense_Mutation_p.S398F|FBXW7_uc011cih.2_Missense_Mutation_p.S222F|FBXW7_uc003imq.3_Missense_Mutation_p.S318F|FBXW7_uc003imr.3_Missense_Mutation_p.S280F	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	398					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.G397D(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTTGTCATCAGAACCACTAAC	0.358000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								59	28					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84348767	84348767	+	Silent	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:84348767G>A	uc003hom.3	-	12	2804	c.2625C>T	c.(2623-2625)ccC>ccT	p.P875P	HELQ_uc010ikb.3_Silent_p.P808P|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	875							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCAGATCATAGGGGGTTGTTA	0.373000								Other identified genes with known or suspected DNA repair function					59	40					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74604816	74604816	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:74604816G>A	uc002skx.3	-	2	635	c.317C>T	c.(316-318)cCa>cTa	p.P106L	DCTN1_uc002skv.3_5'Flank|DCTN1_uc002sku.3_5'Flank|DCTN1_uc002skw.2_Missense_Mutation_p.P106L|DCTN1_uc010ffd.3_Missense_Mutation_p.P106L|DCTN1_uc002sky.3_Missense_Mutation_p.P89L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	106					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGGTGTCTCTGGGGAAGTAGT	0.463000													21	100					0	0	1	0	0
HMGCL	3155	broad.mit.edu	37	1	24147025	24147025	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:24147025G>C	uc001bib.3	-	1	163	c.119C>G	c.(118-120)cCc>cGc	p.P40R	HMGCL_uc010oec.2_Missense_Mutation_p.P40R|HMGCL_uc001bic.3_Missense_Mutation_p.P15R|HMGCL_uc009vqs.1_Missense_Mutation_p.P40R|HMGCL_uc021oii.1_5'Flank	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	40					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.P40T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TCCATCTCGGGGACCAACTTC	0.393000													18	46					0	0	1	0	0
FNDC9	408263	broad.mit.edu	37	5	156769995	156769995	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:156769995G>A	uc003lwu.2	-	1	738	c.550C>T	c.(550-552)Cca>Tca	p.P184S	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Missense_Mutation_p.P184S	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	184						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TTCTTGCGTGGCATTTCCACC	0.632000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	101					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130289058	130289058	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:130289058C>T	uc001qgg.4	-	1	1208	c.850G>A	c.(850-852)Gac>Aac	p.D284N		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	284	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCCCATTGTCGGACACCTCT	0.552000													63	336					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077056	41077056	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr22:41077056C>T	uc003ayz.3	+	1	661	c.393C>T	c.(391-393)atC>atT	p.I131I	MCHR1_uc003aza.3_Silent_p.I20I	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	131					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCACGGTCATCTTCGCGGTCG	0.557000													21	58					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4204203	4204203	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:4204203G>C	uc003ghp.1	-	3	732	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	234					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACCCAGAGTGATGAGCCGTT	0.517000													29	78					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	78					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835309	172835309	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:172835309T>A	uc003fin.4	-	1	397	c.213A>T	c.(211-213)gaA>gaT	p.E71D		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	71					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGCTTTGTTTTTCTTTGATGC	0.368000													29	210					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168344722	168344722	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:168344722C>G	uc021zik.1	+	24	3516	c.3197C>G	c.(3196-3198)tCc>tGc	p.S1066C	MLLT4_uc003qwb.1_Missense_Mutation_p.S1091C|MLLT4_uc003qwc.2_Missense_Mutation_p.S1107C|MLLT4_uc021zij.1_Missense_Mutation_p.S1090C|MLLT4_uc021zim.1_Missense_Mutation_p.S653C|MLLT4_uc003qwg.1_Missense_Mutation_p.S416C	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1107	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.S1066I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AATCAGCCATCCCCCATGATG	0.517000			T	MLL	AL								14	52					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	641365	641365	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:641365G>A	uc010wys.2	+	8	1423	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	CLUL1_uc002kkp.3_Missense_Mutation_p.E345K|CLUL1_uc002kkq.3_Missense_Mutation_p.E345K	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	345					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGAATTAGACGAGGCGATCAG	0.488000													28	30					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56779411	56779411	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:56779411T>C	uc003dih.2	-	9	898	c.788A>G	c.(787-789)gAt>gGt	p.D263G	ARHGEF3_uc011bew.1_Missense_Mutation_p.D231G|ARHGEF3_uc011bev.1_Missense_Mutation_p.D202G|ARHGEF3_uc003dif.2_Missense_Mutation_p.D237G|ARHGEF3_uc003dig.2_Missense_Mutation_p.D231G|ARHGEF3_uc010hmy.1_Missense_Mutation_p.D29G|ARHGEF3_uc003dii.2_Missense_Mutation_p.D231G	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	231	DH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GACTCGGTGATCTTGCTTTTT	0.483000													131	313					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922731	44922731	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:44922731C>T	uc011mkz.2	+	16	2123	c.1748C>T	c.(1747-1749)tCa>tTa	p.S583L	KDM6A_uc022bvi.1_Missense_Mutation_p.S201L|KDM6A_uc010nhk.2_Missense_Mutation_p.S497L|KDM6A_uc004dge.4_Missense_Mutation_p.S531L|KDM6A_uc011mla.2_Missense_Mutation_p.S486L|KDM6A_uc011mlb.2_Missense_Mutation_p.S538L|KDM6A_uc011mlc.2_Missense_Mutation_p.S235L|KDM6A_uc022bvj.1_Missense_Mutation_p.S452L|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.S170L	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	531					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACAGCTGACTCATCACTGCCT	0.522000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								29	32					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70505948	70505948	+	Silent	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:70505948C>G	uc001oqc.3	-	13	1966	c.1854G>C	c.(1852-1854)ggG>ggC	p.G618G	SHANK2_uc010rqn.2_Silent_p.G94G|SHANK2_uc001opz.3_Silent_p.G94G|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.G94G	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	303					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCAAGAAGTCCCCGGTCCTTA	0.587000													16	83					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83245	83245	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrGL000219.1:83245T>C	uc022brb.1	-	3	422	c.109A>G	c.(109-111)Agt>Ggt	p.S37G	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GCTGTTTTACTTTTTGCTTCT	0.363000													4	33					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798810	55798810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:55798810G>T	uc010riw.2	+	0	916	c.916G>T	c.(916-918)Gaa>Taa	p.E306*		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AAAGCTATTAGAAAGAATTGG	0.308000													12	45					0	0	1	0	0
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:17770059C>T	uc004cyb.3	+	6	1153	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_uc004cyc.3_Silent_p.C249C|SCML1_uc004cyd.3_Silent_p.C155C|SCML1_uc004cye.3_Silent_p.C155C	NM_001037540	NP_001032625	Q9UN30	SCML1_HUMAN	Homo sapiens sex comb on midleg-like 1 (Drosophila) (SCML1), transcript variant 1, mRNA.	276	SAM.				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448000													5	406					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237886488	237886488	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:237886488G>T	uc001hyl.1	+	73	10735	c.10615G>T	c.(10615-10617)Gat>Tat	p.D3539Y	RYR2_uc010pxz.1_Missense_Mutation_p.D494Y|RYR2_uc021pkz.1_Non-coding_Transcript	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3539					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T3539T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAACAGGACTGATGATACCTC	0.398000													31	98					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48873764	48873764	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr8:48873764C>T	uc003xqk.2	+	1	886	c.60C>T	c.(58-60)ccC>ccT	p.P20P	PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Silent_p.P20P|MCM4_uc011ldi.2_Silent_p.P20P|MCM4_uc010lxw.2_Non-coding_Transcript	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	20					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGGCCACCCCCGCCCAGACGC	0.771000													5	0					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39198795	39198795	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:39198795G>A	uc002oja.2	+	5	730	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	ACTN4_uc010egc.2_Missense_Mutation_p.R204Q|ACTN4_uc021uug.1_Intron	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	204	Actin-binding.|CH 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGATCCACCGGCACAGACCA	0.567000													42	93					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr17:7578271T>C	uc002gim.2	-	5	772	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.3_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.2_Missense_Mutation_p.H154R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(152)|p.H193L(77)|p.Q192*(71)|p.H193P(32)|p.H193Y(27)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.H193fs*16(6)|p.?(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.H193N(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.Q192H(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.H193H(2)|p.Q192Q(2)|p.Q192K(2)|p.H61P(2)|p.H100P(2)|p.H193_I195>AP(2)|p.A189fs*53(1)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.Q192del(1)|p.Q192fs*56(1)|p.Q192fs*16(1)|p.Q192fs*30(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)		TCGGATAAGATGCTGAGGAGG	0.562000		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	7					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:52715982C>T	uc002pyp.3	+	4	842	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_uc010ydk.2_Missense_Mutation_p.R128W|PPP2R1A_uc010epm.1_Missense_Mutation_p.R223W|PPP2R1A_uc002pyq.3_Missense_Mutation_p.R4W	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R183W(44)|p.R183Q(10)|p.R182W(5)|p.R183G(4)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617000			Mis		clear cell ovarian carcinoma								32	68					0	0	1	0	0
NKAIN4	128414	broad.mit.edu	37	20	61875393	61875393	+	Missense_Mutation	SNP	G	G	A	rs141841184		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr20:61875393G>A	uc002yek.3	-	4	605	c.515C>T	c.(514-516)aCg>aTg	p.T172M		NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 4 (NKAIN4), mRNA.	172						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					CTCTTCCTCCGTAAACACGCT	0.637000													4	45					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	171958171	171958172	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:171958171_171958172insA	uc001gie.3	+	3	648_649	c.472_473insA	c.(472-474)gaafs	p.E158fs	DNM3_uc001gid.4_Frame_Shift_Ins_p.E158fs|DNM3_uc009wwb.2_Frame_Shift_Ins_p.E158fs|DNM3_uc001gif.3_Frame_Shift_Ins_p.E158fs	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	158					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCAGATCAGAGAAATGATTATG	0.426													22	19	---	---	---	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:248616705_248616711delTGCTGCG	uc001iek.1	+	0	607_613	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.C203fs		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													7	161	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589585	67589586	+	In_Frame_Ins	INS	-	-	ATG			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:67589585_67589586insATG	uc003jva.3	+	10	1928_1929	c.1348_1349insATG	c.(1348-1350)cat>cATGat	p.450_451insD	PIK3R1_uc003jvc.3_In_Frame_Ins_p.150_151insD|PIK3R1_uc003jvd.3_In_Frame_Ins_p.180_181insD|PIK3R1_uc003jve.3_In_Frame_Ins_p.129_130insD|PIK3R1_uc021xzn.1_In_Frame_Ins_p.87_88insD|PIK3R1_uc011crb.2_In_Frame_Ins_p.120_121insD	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	450					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.H450_E451del(4)|p.G446_Y452>VI(2)|p.E451_Y452delEY(2)|p.D434_Q475del(2)|p.0?(1)|p.?(1)|p.L449fs*3(1)|p.E451_Y452del(1)|p.K448_L449>I(1)|p.L449S(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAAAAATTACATGAATATAAC	0.282			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			24	21	---	---	---	---					
PPAPDC2	403313	broad.mit.edu	37	9	4662430	4662432	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:4662430_4662432delAGC	uc003zin.3	+	0	133_135	c.55_57delAGC	c.(55-57)agcdel	p.S23del	SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA.	23						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CTCCGCTTCGAGCAGCAGCAGCA	0.729											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
ANKRD18A	253650	broad.mit.edu	37	9	38615615	38615618	+	Frame_Shift_Del	DEL	ATGG	ATGG	-			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:38615615_38615618delATGG	uc004abg.4	-	2	546_549	c.468_471delCCAT	c.(466-471)caccatfs	p.H156fs	ANKRD18A_uc010mme.3_Frame_Shift_Del_p.H156fs	NM_147195	NP_671728	Q8IVF6	AN18A_HUMAN	Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA.	156										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						CAATATTTGCATGGTGGGAAAGCA	0.373													7	4	---	---	---	---					
