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
EFEMP2	30008	broad.mit.edu	37	11	65637423	65637423	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:65637423G>C	uc001ofy.4	-	6	891	c.632C>G	c.(631-633)gCc>gGc	p.A211G	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	211	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	p.A211G(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCGCATGGGGCCCCCATGTC	0.607000													9	127					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526359	23526359	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:23526359C>T	uc003jgo.3	+	10	1344	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	388					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H388Y(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCCAGAGATCCATCCATGTCC	0.438000										HNSCC(3;0.000094)			53	92					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40572273	40572273	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:40572273C>T	uc004dex.4	-	5	814	c.674G>A	c.(673-675)cGt>cAt	p.R225H	MED14_uc010nhe.1_Missense_Mutation_p.R109H	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	225	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R225H(3)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTTCAACACGAAACTTCAC	0.403000													11	3					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69646520	69646520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:69646520C>A	uc010kak.3	+	3	1254	c.978C>A	c.(976-978)tgC>tgA	p.C326*	BAI3_uc003pev.4_Nonsense_Mutation_p.C326*	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	326	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C326*(3)|p.H325N(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGACACACTGCAGCGGCCCAT	0.493000													3	35					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132180059	132180059	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:132180059G>T	uc010sci.2	+	5	1046	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	NTM_uc001qgm.3_Missense_Mutation_p.G239W|NTM_uc010sch.2_Missense_Mutation_p.G230W|NTM_uc010scj.2_Missense_Mutation_p.G198W|NTM_uc001qgo.3_Missense_Mutation_p.G239W|NTM_uc001qgq.3_Missense_Mutation_p.G239W|NTM_uc001qgp.3_Missense_Mutation_p.G239W	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	239	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.G239W(3)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGGACAAAAGGGGACACTGCA	0.498000													18	169					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70461111	70461111	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461111G>T	uc004dzh.2	-	23	4065	c.3886C>A	c.(3886-3888)Cct>Act	p.P1296T	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.P1296T|ZMYM3_uc004dzj.2_Missense_Mutation_p.P1284T	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1296					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.P1296T(2)|p.P1296R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AACTTGACAGGGCAGCGGAGG	0.507000													5	23					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103710721	103710721	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:103710721G>T	uc001vpy.4	-	1	986	c.389C>A	c.(388-390)aCc>aAc	p.T130N		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	130					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.T130N(2)		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)					GGAGCATGTGGTCATGCTGAC	0.433000													5	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435374	179435374	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179435374C>G	uc021vsy.1	-	274	68006	c.67781G>C	c.(67780-67782)aGc>aCc	p.S22594T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S16289T|TTN_uc021vta.1_Missense_Mutation_p.S16222T|TTN_uc021vtb.1_Missense_Mutation_p.S16097T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23521	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S16097T(2)|p.S22594T(1)|p.S16222T(1)|p.S16289T(1)|p.S22592T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGTCGGTGCTCTTTATTTC	0.408000													36	71					0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113748108	113748108	+	Silent	SNP	G	G	T	rs138371135		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr12:113748108G>T	uc001tvc.3	-	11	1398	c.1188C>A	c.(1186-1188)atC>atA	p.I396I	SLC24A6_uc001tuz.3_Silent_p.I101I|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.I134I	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	396					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	p.I396I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CTGTGCCTGCGATCACCACCA	0.587000													50	56					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033605	26033605	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:26033605C>T	uc003nft.1	-	0	192	c.192G>A	c.(190-192)ctG>ctA	p.L64L	HIST1H3B_uc003nfs.1_5'Flank	NM_003513	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ab (HIST1H2AB), mRNA.	64					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L64L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCCAGCTCCAGGATCTCGG	0.637000													11	56					0	0	1	0	0
CYB5R2	51700	broad.mit.edu	37	11	7690490	7690490	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:7690490C>T	uc001mfm.3	-	4	572	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Missense_Mutation_p.G112R|CYB5R2_uc009yfl.1_Missense_Mutation_p.G112R	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	112	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	p.G112R(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGTCTCCCCGATTTTCATG	0.483000													15	115					0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600542	3600542	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:3600542C>T	uc002lyg.2	-	1	478	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	TBXA2R_uc021umv.1_Missense_Mutation_p.A31T	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	31					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	p.A31T(2)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGGAGGCGGCGAACCAGGGC	0.697000													9	23					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414267	19414267	+	RNA	SNP	T	T	C	rs74350188		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:19414267T>C	uc010tcj.1	-	0		c.31843A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TAACATTTGTTTTTTCTTCAT	0.279000													3	40					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33246843	33246843	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:33246843C>T	uc011lbi.2	-	3	1166	c.1000G>A	c.(1000-1002)Gtt>Att	p.V334I	FUT10_uc003xjc.3_Missense_Mutation_p.V291I|FUT10_uc003xjd.3_Missense_Mutation_p.V256I|FUT10_uc003xje.3_Missense_Mutation_p.V284I|FUT10_uc003xjf.3_Missense_Mutation_p.V222I|FUT10_uc003xjg.3_Missense_Mutation_p.V256I|FUT10_uc003xjh.3_Missense_Mutation_p.V284I			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	284					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.V284I(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCATCACAAACTGCATTCTCA	0.468000													8	46					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000													4	15					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096617	107096617	+	Silent	SNP	C	C	T	rs144553244		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:107096617C>T	uc003dwi.1	+	0	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	61								p.D61D(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363000													8	89					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144811144	144811144	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:144811144T>C	uc003yzk.3	-	3	799	c.730A>G	c.(730-732)Agc>Ggc	p.S244G		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	244					biomineral tissue development			p.S244G(2)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACCTGTAGCTCCCACTCATC	0.662000													8	108					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522425	157522425	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:157522425G>A	uc003qqp.3	+	16	4658	c.4658G>A	c.(4657-4659)cGc>cAc	p.R1553H	ARID1B_uc003qqo.3_Missense_Mutation_p.R1566H|ARID1B_uc003qqn.3_Missense_Mutation_p.R1606H	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1553	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGAGAACCGCATGTCTCCA	0.622000													4	168					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991220	47991220	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr20:47991220G>A	uc002xur.1	-	1	1043	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	KCNB1_uc002xus.1_Missense_Mutation_p.R293C	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	293					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R293C(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCACGCGGCGGACATTCTGG	0.542000													3	89					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16465318	16465318	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:16465318T>A	uc003jfq.3	-	0	577	c.457A>T	c.(457-459)Aag>Tag	p.K153*		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	153						cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.K153*(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGGCCTCCTTTGCAGGCGCT	0.642000													13	113					0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77768836	77768836	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:77768836C>T	uc002jxd.2	-	4	886	c.768G>A	c.(766-768)tcG>tcA	p.S256S		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	256					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding	p.S256S(2)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCACCAGGTCCGAGTCCTGTC	0.627000													7	11					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2545	2545	+	RNA	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrGL000237.1:2545G>A	uc011mgu.1	-	0		c.142C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccgcgctgccatctc	0.627000													3	9					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640329	3640329	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr16:3640329G>A	uc002cvp.2	-	11	3937	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1104	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R1104R(2)|p.R1104W(2)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACGGACCGACGCTCTTTG	0.532000								Direct reversal of damage					5	137					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000													5	4					0	0	1	0	0
TSPAN33	340348	broad.mit.edu	37	7	128807390	128807390	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr7:128807390G>A	uc003vop.2	+	6	848	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	TSPAN33_uc003voq.2_Missense_Mutation_p.A79T	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	247						integral to membrane		p.A247T(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TCTAGGCCTGGCCATCCCCCA	0.507000													4	137					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711178	140711178	+	Silent	SNP	C	C	T	rs148638556		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:140711178C>T	uc003lji.2	+	0	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGC5_uc011dan.2_Silent_p.F309F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	310	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F309F(3)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAGATTTCGAAGAATACA	0.373000													6	44					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123171436	123171436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:123171436C>A	uc004bkf.3	-	29	4754	c.4573G>T	c.(4573-4575)Gag>Tag	p.E1525*	CDK5RAP2_uc010mvi.3_Nonsense_Mutation_p.E534*|CDK5RAP2_uc004bke.3_Nonsense_Mutation_p.E810*|CDK5RAP2_uc004bkg.3_Nonsense_Mutation_p.E1525*|CDK5RAP2_uc011lxw.2_Nonsense_Mutation_p.E790*|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Nonsense_Mutation_p.E790*|CDK5RAP2_uc011lya.2_Nonsense_Mutation_p.E790*|CDK5RAP2_uc004bkh.1_Nonsense_Mutation_p.E1295*|CDK5RAP2_uc004bki.3_Nonsense_Mutation_p.E1292*	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1525					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.E1525*(2)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCGGACCTCCTGGATCAGC	0.612000													5	70					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579021	35579021	+	Silent	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:35579021A>G	uc001bym.3	+	9	1736	c.1590A>G	c.(1588-1590)caA>caG	p.Q530Q	ZMYM1_uc001byn.3_Silent_p.Q530Q|ZMYM1_uc010ohu.2_Silent_p.Q511Q|ZMYM1_uc001byo.3_Silent_p.Q170Q|ZMYM1_uc009vut.3_Silent_p.Q455Q	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	530						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	p.Q530Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGAATACCAATTTTGTGATG	0.318000													16	181					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100373726	100373726	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:100373726T>C	uc003duc.3	+	11	1695	c.1427T>C	c.(1426-1428)aTa>aCa	p.I476T	GPR128_uc011bhc.2_Missense_Mutation_p.I177T|GPR128_uc003dud.3_5'UTR	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	476					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I476T(2)|p.C475C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATCTGTGCATATCAATGTTG	0.323000													3	57					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74426130	74426130	+	Silent	SNP	T	T	C	rs113814754		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr14:74426130T>C	uc001xph.3	+	7	877	c.796T>C	c.(796-798)Ttg>Ctg	p.L266L	ENTPD5_uc001xpi.3_3'UTR|COQ6_uc001xpe.3_Silent_p.L191L|COQ6_uc010tuk.2_Silent_p.L241L|COQ6_uc010tun.2_Missense_Mutation_p.L274P|COQ6_uc021rwk.1_Silent_p.L191L	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	266					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.L266L(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CTCAGACACCTTGAGTTCCTT	0.448000													52	78					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	67012255	67012255	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:67012255A>T	uc003xvs.1	+	5	880	c.589A>T	c.(589-591)Aca>Tca	p.T197S	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	197					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.T197S(2)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTTATTGCACAGACTCTTG	0.448000													4	24					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:123811134G>A	uc001pzk.1	+	0	811	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493000													36	140					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70461110	70461110	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461110G>C	uc004dzh.2	-	23	4066	c.3887C>G	c.(3886-3888)cCt>cGt	p.P1296R	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.P1296R|ZMYM3_uc004dzj.2_Missense_Mutation_p.P1284R	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1296					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.P1296R(2)|p.P1296T(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAACTTGACAGGGCAGCGGAG	0.512000													5	23					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115454198	115454198	+	Silent	SNP	C	C	T	rs148948913	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:115454198C>T	uc001efr.3	+	17	1733	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.N508N|SYCP1_uc009wgw.3_Silent_p.N508N	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	508				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.N508N(2)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTTGAAAACGAGAAGTATG	0.249000													19	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412022	179412022	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179412022G>A	uc021vsy.1	-	288	86751	c.86526C>T	c.(86524-86526)agC>agT	p.S28842S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S22537S|TTN_uc021vta.1_Silent_p.S22470S|TTN_uc021vtb.1_Silent_p.S22345S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29769	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S22345S(2)|p.S22470S(1)|p.S28840S(1)|p.S22537S(1)|p.S28842S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTAGGAGCGCTTGGTGGGA	0.378000													17	111					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51915071	51915071	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:51915071C>T	uc003pah.1	-	21	2439	c.2163G>A	c.(2161-2163)acG>acA	p.T721T	PKHD1_uc003pai.3_Silent_p.T721T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	721					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.T721T(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGGCGAGCCGTTCCAGAAT	0.537000											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	92					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1271546	1271546	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:1271546G>A	uc001aer.4	-	14	2036	c.1989C>T	c.(1987-1989)tgC>tgT	p.C663C	DVL1_uc009vka.3_Silent_p.C346C|DVL1_uc002quu.3_Silent_p.C405C|DVL1_uc001aeu.1_3'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	688					Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	p.C663C(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGAAGAACTCGCAGGGGTTCC	0.692000													3	11					0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35810383	35810383	+	Splice_Site	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:35810383T>A	uc003olj.3	-	14	1745	c.1621_splice	c.e14-1	p.A541_splice	SRPK1_uc003olh.3_Splice_Site_p.A434_splice|SRPK1_uc003oli.3_Splice_Site_p.A434_splice|SRPK1_uc011dtg.2_Splice_Site_p.A525_splice	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	541	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCAAAGGCCTAAAAAAAAAA	0.418000													3	45					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37038824	37038824	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:37038824T>A	uc003jkl.4	+	33	6591	c.6092T>A	c.(6091-6093)cTt>cAt	p.L2031H	NIPBL_uc003jkk.4_Missense_Mutation_p.L2031H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2031					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.L2031H(3)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAACCATACCTTACCACTAAA	0.348000													5	51					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:186276052A>C	uc001gru.4	+	6	1252	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T360P|PRG4_uc009wyl.3_Missense_Mutation_p.T308P|PRG4_uc009wym.3_Missense_Mutation_p.T267P|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T401P(8)|p.T400T(3)|p.T400>?(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642000													6	122					0	0	1	0	0
ZNF576	79177	broad.mit.edu	37	19	44103050	44103050	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:44103050T>C	uc002owz.2	+	2	326	c.153T>C	c.(151-153)cgT>cgC	p.R51R	IRGQ_uc010eiv.2_5'Flank|ZNF576_uc002owy.2_Silent_p.R51R|SRRM5_uc002oxb.2_Intron	NM_001145347	NP_077303	Q9H609	ZN576_HUMAN	Homo sapiens zinc finger protein 576 (ZNF576), transcript variant 2, mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R51R(2)		endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TCCAGGAGCGTCACATGAAGC	0.647000													4	143					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204985573	204985573	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:204985573G>A	uc010prc.2	+	26	3658	c.2129G>A	c.(2128-2130)gGc>gAc	p.G710D	NFASC_uc001hbj.3_Missense_Mutation_p.G1210D|NFASC_uc010pra.2_Missense_Mutation_p.G1144D|NFASC_uc001hbi.3_Missense_Mutation_p.G1139D|NFASC_uc010prb.2_Missense_Mutation_p.G1159D|NFASC_uc001hbl.2_Missense_Mutation_p.G286D|NFASC_uc001hbm.2_Missense_Mutation_p.G233D|NFASC_uc009xbh.2_Missense_Mutation_p.A65T|NFASC_uc001hbo.2_Missense_Mutation_p.A86T			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1317	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.G1139D(1)|p.G1210D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCTTCATCGGCCAGTACACG	0.562000													4	128					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000													4	7					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390384	158390384	+	Silent	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:158390384G>T	uc010pii.2	-	0	273	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(2)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGAAAGAAATGGTCTTCTTCT	0.478000													17	262					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78415119	78415119	+	Silent	SNP	A	A	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:78415119A>T	uc003kfu.4	+	2	309	c.204A>T	c.(202-204)tcA>tcT	p.S68S	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	68	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.S68S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GAGCTGGCTCAAACGTCATGC	0.448000													33	41					0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32134717	32134717	+	Silent	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr12:32134717A>G	uc001rks.3	+	3	1242	c.828A>G	c.(826-828)agA>agG	p.R276R		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	276								p.R276R(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CTGACAAAAGACCTCCTCCTC	0.418000													5	94					0	0	1	0	0
ATG10	83734	broad.mit.edu	37	5	81354375	81354375	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:81354375C>G	uc003khs.3	+	3	599	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ATG10_uc003khq.2_Nonsense_Mutation_p.S57*|ATG10_uc003khr.3_Nonsense_Mutation_p.S57*|ATG10_uc010jas.3_Intron	NM_001131028	NP_113670	Q9H0Y0	ATG10_HUMAN	Homo sapiens ATG10 autophagy related 10 homolog (S. cerevisiae) (ATG10), transcript variant 3, mRNA.	57					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	p.S57*(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		TCTGTGATGTCACATCTAGGA	0.373000													28	227					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2648484	2648484	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:2648484C>T	uc010ick.3	+	5	964	c.963C>T	c.(961-963)tcC>tcT	p.S321S	FAM193A_uc003gfd.3_Silent_p.S121S|FAM193A_uc011bvm.2_Silent_p.S121S|FAM193A_uc011bvn.2_Silent_p.S121S|FAM193A_uc010icl.3_Silent_p.S121S|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	121								p.S121S(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACCAGCGTTCCGAGGAGGAGC	0.597000													10	142					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49028271	49028271	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:49028271G>A	uc003cvh.3	+	1	709	c.360G>A	c.(358-360)ggG>ggA	p.G120G	P4HTM_uc003cvg.3_Silent_p.G120G	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	120						endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G120G(3)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTTAGGTGGGGCACGAGCGTA	0.662000													3	26					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48258247	48258247	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr16:48258247C>G	uc002eff.1	-	3	839	c.489G>C	c.(487-489)ttG>ttC	p.L163F	ABCC11_uc002efg.1_Missense_Mutation_p.L163F|ABCC11_uc002efh.1_Missense_Mutation_p.L163F|ABCC11_uc010vgl.1_Missense_Mutation_p.L163F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	163	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L163F(4)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATCGAAAATCAACCTTGTTC	0.507000													8	25					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999741	55999741	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:55999741C>T	uc010rjc.2	-	0	921	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S307S(2)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCATGGTCCGAAGCATAGC	0.408000													6	143					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19690802	19690802	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:19690802G>A	uc022asn.1	+	11	1634	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	INTS10_uc003wzj.3_Silent_p.A500A	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	500					snRNA processing	integrator complex	protein binding	p.A500A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCCAGCTGGCGACGTGCCACT	0.607000													12	44					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr22:29091841G>A	uc003adu.1	-	10	1188	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adx.1_Silent_p.S151S	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	372	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	54					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100635173	100635173	+	Silent	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:100635173A>G	uc001von.3	+	0	1148	c.855A>G	c.(853-855)acA>acG	p.T285T		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	285					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T285T(2)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCTGGTGACACACGTCTCGG	0.582000													53	71					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	55					0	0	1	0	0
BCRP3	644165	broad.mit.edu	37	22	25045855	25045855	+	Silent	SNP	G	G	A	rs738818	by1000genomes	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr22:25045855G>A	uc011ajv.2	+	5	936	c.579G>A	c.(577-579)agG>agA	p.R193R	POM121L10P_uc003abc.2_Intron					Homo sapiens breakpoint cluster region pseudogene 3 (BCRP3), non-coding RNA.																		GGTCAATAAGGTGTCCCTGCA	0.632000													4	14					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3227796	3227796	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:3227796G>A	uc004crg.4	-	6	8605	c.8448C>T	c.(8446-8448)ctC>ctT	p.L2816L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2816	Ig-like C2-type 12.					extracellular region		p.L2816L(4)|p.L2816H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTCACTGCCGAGAATGTTTT	0.468000													20	3					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361114	107361114	+	Missense_Mutation	SNP	C	C	T	rs76558719		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:107361114C>T	uc011lvp.2	-	0	581	c.581G>A	c.(580-582)gGc>gAc	p.G194D		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G194D(2)|p.S193*(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GAACTCATTGCCTGAGATGTC	0.383000													5	177					0	0	1	0	0
PLAC1L	219990	broad.mit.edu	37	11	59812207	59812207	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:59812207C>A	uc001nol.3	+	2	492	c.307C>A	c.(307-309)Cat>Aat	p.H103N		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	103						extracellular region		p.H103N(2)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GAATATAGATCATGACCCTCA	0.408000													4	94					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483118	32483118	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:32483118T>G	uc002hhu.3	-	0	708	c.434A>C	c.(433-435)cAc>cCc	p.H145P		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	145					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.H145P(1)								Amiloride(DB00594)	GGGTTTGTAGTGCTTGAAGTT	0.592000													16	132					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	928	928	+	RNA	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrGL000237.1:928A>G	uc011mgu.1	-	1		c.290T>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		tcaggctccaacctccagctc	0.552000													3	36					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33290883	33290883	+	Silent	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr14:33290883G>T	uc001wrq.3	+	12	4034	c.3864G>T	c.(3862-3864)gtG>gtT	p.V1288V		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1288					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.V1288V(3)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTACCAGGTGTACAGCCTCC	0.453000													3	42					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:153177307C>T	uc001fbl.3	+	1	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	LELP1_uc021ozv.1_Missense_Mutation_p.R42C	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	42	Cys/Pro-rich.							p.R42C(4)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552000													13	178					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256567	63256567	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:63256567C>T	uc011cqt.2	-	0	980	c.980G>A	c.(979-981)cGc>cAc	p.R327H		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	327					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.R327H(2)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTCGGCGTTGCGCTCATTTTT	0.622000													9	82					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34804091	34804091	+	Silent	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:34804091G>T	uc003oju.4	+	7	1233	c.999G>T	c.(997-999)ctG>ctT	p.L333L	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	333								p.L333L(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTGGACCTGCACATTTGTG	0.577000													31	75					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154709740	154709740	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:154709740A>G	uc003inv.1	-	0	489	c.248T>C	c.(247-249)gTc>gCc	p.V83A		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	83	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity	p.V83A(3)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CTGCTTCATGACCAGCGGGAT	0.627000													20	127					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138818	151138818	+	Missense_Mutation	SNP	T	T	C	rs61730039	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:151138818T>C	uc004ffi.3	-	1	167	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	38					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.Y38C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGCCATAGACAACATC	0.512000													81	15					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:186276640A>C	uc001gru.4	+	6	1840	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T556P|PRG4_uc009wyl.3_Missense_Mutation_p.T504P|PRG4_uc009wym.3_Missense_Mutation_p.T463P|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652000													6	69					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780631	133780631	+	Silent	SNP	G	G	A	rs142382814		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:133780631G>A	uc004bzz.3	-	5	1361	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	FIBCD1_uc011mcc.2_Silent_p.S372S	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	372	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	p.S372S(2)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CTGCAGTGCCGGAATAGTCAG	0.647000													8	19					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145439910	145439910	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:145439910T>C	uc001enn.4	+	2	797	c.456T>C	c.(454-456)aaT>aaC	p.N152N	TXNIP_uc010oys.2_Silent_p.N97N	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	152					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.N152N(2)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGATGTCAATACCCCTGATT	0.433000													32	128					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:39673185C>T	uc002hwy.3	-	2	804	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(6)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612000													35	60					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79518970	79518970	+	Frame_Shift_Del	DEL	G	-	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:79518970delG	uc002kaq.3	-	1	347	c.274delC	c.(274-276)cacfs	p.H92fs	C17orf70_uc010wuq.1_5'Flank|C17orf70_uc002kap.3_5'UTR	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	92					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGCCCGGGTGGTCCAGCGAC	0.736													2	4	---	---	---	---					
