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
OR10C1	442194	broad.mit.edu	37	6	29407912	29407912	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:29407912C>A	ENST00000444197.2	+	1	830	c.120C>A	c.(118-120)ggC>ggA	p.G40G	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCGTGGCAGGCAATTTCCTCA	0.552000													39	86					9.45814e-24	1.54296e-23	1	1	0
MINPP1	9562	broad.mit.edu	37	10	89265181	89265181	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:89265181G>T	ENST00000371996.4	+	1	550	c.509G>T	c.(508-510)aGc>aTc	p.S170I	MINPP1_ENST00000371994.4_Missense_Mutation_p.S170I	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	170					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GCCCTTTTCAGCCGTGAGAAC	0.642000											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	41					1.61879e-10	2.12708e-10	1	1	0
CHST12	55501	broad.mit.edu	37	7	2472403	2472403	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:2472403G>A	ENST00000258711.6	+	2	264	c.129G>A	c.(127-129)ccG>ccA	p.P43P		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	43					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TCTCTAGGCCGCACACGGGGC	0.647000													23	125					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282926	69282926	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:69282926G>A	ENST00000338352.2	+	1	586	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	184	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						ACGTCGACGAGTTCCTGCCCT	0.597000													20	39					0	0	1	0	0
KLRC3	3823	broad.mit.edu	37	12	10572984	10572984	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:10572984C>A	ENST00000396439.2	-	1	210	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Missense_Mutation_p.D56Y|KLRC3_ENST00000381903.2_Missense_Mutation_p.D56Y	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TATATTTTATCAATCCCTTGA	0.353000													44	121					5.48756e-27	9.10652e-27	1	1	0
BCHE	590	broad.mit.edu	37	3	165548805	165548805	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:165548805G>A	ENST00000264381.3	-	2	183	c.17C>T	c.(16-18)aCa>aTa	p.T6I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	6					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GCATATGATTGTGACTTTGCT	0.318000													4	34					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753346	45753346	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:45753346C>A	ENST00000297323.7	+	20	3134	c.3112C>A	c.(3112-3114)Cga>Aga	p.R1038R		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1038	Interaction with calmodulin (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTTTGTGTGCCGAGGCAAAGT	0.537000													26	101					2.12542e-12	2.91724e-12	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55494889	55494889	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:55494889G>A	ENST00000543010.1	+	6	1966	c.1823G>A	c.(1822-1824)tGt>tAt	p.C608Y	NLRP2_ENST00000263437.6_Missense_Mutation_p.C605Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.C586Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.C608Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.C585Y|NLRP2_ENST00000391721.4_Missense_Mutation_p.C584Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.C586Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.C584Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	608					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTCCTCGGCTGTCTGTACGAG	0.512000													12	43					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29036439	29036439	+	Splice_Site	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:29036439G>T	ENST00000257189.4	+	2	167		c.e2+1			NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3						cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCGAATAGAGGTAAAGTATGA	0.229000													25	107					1.77063e-15	2.58707e-15	1	1	0
MPPED2	744	broad.mit.edu	37	11	30439177	30439177	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:30439177G>T	ENST00000448418.2	-	5	900	c.540C>A	c.(538-540)acC>acA	p.T180T	MPPED2_ENST00000358117.5_Silent_p.T180T|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	180					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TAAACCACGGGGTCCTTTGGG	0.532000													13	37					0.00010058	0.000109698	1	1	0
SIN3A	25942	broad.mit.edu	37	15	75692396	75692396	+	Missense_Mutation	SNP	T	T	G	rs140482409		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:75692396T>G	ENST00000394947.3	-	12	2153	c.1839A>C	c.(1837-1839)gaA>gaC	p.E613D	SIN3A_ENST00000360439.4_Missense_Mutation_p.E613D|SIN3A_ENST00000394949.4_Missense_Mutation_p.E613D	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	613	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGCGTTCATCTTCACAACGAT	0.418000													46	153					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183056660	183056660	+	Silent	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:183056660A>T	ENST00000328913.3	-	5	711	c.414T>A	c.(412-414)tcT>tcA	p.S138S	MCF2L2_ENST00000473233.1_Silent_p.S138S|MCF2L2_ENST00000447025.2_Silent_p.S138S|MCF2L2_ENST00000414362.2_Silent_p.S138S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	138	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGATAAAGCGAGATGGACGAA	0.408000													14	59					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908061	12908061	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:12908061C>G	ENST00000317869.6	-	2	307	c.82G>C	c.(82-84)Gtc>Ctc	p.V28L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GATTTCTTGACAACAAGAGTG	0.448000													14	228					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113445018	113445018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:113445018G>T	ENST00000416899.2	+	2	270	c.144G>T	c.(142-144)atG>atT	p.M48I	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374448.4_Missense_Mutation_p.M48I|MUSK_ENST00000189978.5_Missense_Mutation_p.M48I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	48	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTACTTTCATGTGTGCAGTGG	0.373000													52	116					4.0181e-32	6.81484e-32	1	1	0
DMD	1756	broad.mit.edu	37	X	32305746	32305746	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:32305746G>T	ENST00000357033.4	-	43	6396	c.6190C>A	c.(6190-6192)Caa>Aaa	p.Q2064K	DMD_ENST00000378677.2_Missense_Mutation_p.Q2060K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2064					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTGCACTTTGCAATGCTGCT	0.383000													18	84					6.49762e-13	9.04732e-13	1	1	0
CENPN	55839	broad.mit.edu	37	16	81062225	81062225	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:81062225G>C	ENST00000305850.5	+	11	1779	c.989G>C	c.(988-990)aGa>aCa	p.R330T	CENPN_ENST00000393335.3_Intron|RP11-303E16.3_ENST00000561808.1_RNA|CENPN_ENST00000428963.2_Missense_Mutation_p.R296T|CENPN_ENST00000439957.3_Missense_Mutation_p.R310T|RP11-303E16.3_ENST00000566390.1_RNA	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	330					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						CCCAACAAGAGAATGAATTAT	0.353000													17	106					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7838317	7838317	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:7838317C>T	ENST00000380262.3	+	4	1373	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	CNTROB_ENST00000565740.1_Silent_p.L150L|CNTROB_ENST00000380255.3_Silent_p.L150L|CNTROB_ENST00000563694.1_Silent_p.L150L	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	150					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CACCCGGCCCCTGCAAGACTT	0.532000													20	64					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7211052	7211052	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:7211052T>G	ENST00000379938.2	+	7	978	c.441T>G	c.(439-441)caT>caG	p.H147Q	RREB1_ENST00000349384.6_Missense_Mutation_p.H147Q|RREB1_ENST00000379933.3_Missense_Mutation_p.H147Q|RREB1_ENST00000334984.6_Missense_Mutation_p.H147Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	147					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGAAGATCCATGAGAAGGACC	0.428000													134	180					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58756150	58756150	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:58756150G>T	ENST00000245206.5	-	3	407	c.279C>A	c.(277-279)gaC>gaA	p.D93E	GOT2_ENST00000434819.2_Intron|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	93					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGTATTCCTTGTCCAAATTTT	0.443000													15	84					6.72482e-11	8.91242e-11	1	1	0
DMD	1756	broad.mit.edu	37	X	32662313	32662313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:32662313G>T	ENST00000357033.4	-	11	1473	c.1267C>A	c.(1267-1269)Cag>Aag	p.Q423K	DMD_ENST00000288447.4_Missense_Mutation_p.Q415K|DMD_ENST00000378677.2_Missense_Mutation_p.Q419K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	423					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGATTCATCTGCTCTTGTACT	0.388000													25	111					5.45024e-15	7.91827e-15	1	1	0
SHPRH	257218	broad.mit.edu	37	6	146269413	146269413	+	Silent	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:146269413T>C	ENST00000367503.3	-	5	1454	c.1056A>G	c.(1054-1056)acA>acG	p.T352T	SHPRH_ENST00000438092.2_Silent_p.T352T|SHPRH_ENST00000367505.2_Silent_p.T352T|SHPRH_ENST00000275233.7_Silent_p.T352T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	352	Helicase ATP-binding; first part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTACCAGCCTGTATATGGAT	0.313000													27	91					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72492074	72492074	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:72492074C>A	ENST00000373208.1	+	7	1176	c.1176C>A	c.(1174-1176)ggC>ggA	p.G392G	ADAMTS14_ENST00000373207.1_Silent_p.G389G	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	389	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGAGGATGGCTTCTCCTCAG	0.592000													7	39					3.09899e-07	3.69956e-07	1	1	0
OR52M1	119772	broad.mit.edu	37	11	4566862	4566862	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:4566862C>G	ENST00000360213.1	+	1	442	c.442C>G	c.(442-444)Ctt>Gtt	p.L148V		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTTTGGGGCTTGTTTCTCT	0.527000													15	55					0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89476789	89476789	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:89476789T>C	ENST00000370481.4	-	8	1380	c.1160A>G	c.(1159-1161)gAc>gGc	p.D387G		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	387						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCGCTTTTTGTCTAGCTGGGC	0.383000													35	67					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151815586	151815586	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:151815586G>C	ENST00000370306.2	+	4	504	c.484G>C	c.(484-486)Gtg>Ctg	p.V162L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	162						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGAATCGCGTGTTTCAGCT	0.537000													15	66					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749961	79749961	+	Missense_Mutation	SNP	G	G	T	rs139919189	by1000genomes	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:79749961G>T	ENST00000305428.3	+	2	1547	c.1472G>T	c.(1471-1473)tGc>tTc	p.C491F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	491						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGAGACCTGTGCACCTCTGGT	0.532000													12	32					5.16669e-11	6.88296e-11	1	1	0
MYH13	8735	broad.mit.edu	37	17	10212659	10212659	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:10212659C>A	ENST00000418404.3	-	34	5224	c.5061G>T	c.(5059-5061)gaG>gaT	p.E1687D	MYH13_ENST00000570743.1_Missense_Mutation_p.E1687D|MYH13_ENST00000252172.4_Missense_Mutation_p.E1687D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1687					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTCCAGCTCCTCCAGCAGGA	0.647000													5	18					1.23904e-05	1.39483e-05	1	1	0
GALNT2	2590	broad.mit.edu	37	1	230415067	230415067	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:230415067G>C	ENST00000366672.4	+	16	1651	c.1579G>C	c.(1579-1581)Ggc>Cgc	p.G527R	GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.G489R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	527	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACAGATCGAGGGCAACTCCAA	0.577000													9	38					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85438587	85438587	+	Splice_Site	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:85438587G>T	ENST00000393217.2	+	4	397	c.336_splice	c.e4+1	p.K112_splice		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	112										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATTAATTAAGGTATATATTC	0.274000													14	52					1.49906e-05	1.68262e-05	1	1	0
SLITRK3	22865	broad.mit.edu	37	3	164908580	164908580	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:164908580C>G	ENST00000475390.1	-	2	482	c.39G>C	c.(37-39)agG>agC	p.R13S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R13S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	13						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACAACATCCTTCCTCTGT	0.403000										HNSCC(40;0.11)			7	67					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363264	22363264	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:22363264G>T	ENST00000263160.3	+	2	714	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	93					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAACCTGGGCGTGGCCATTGT	0.642000													35	60					3.21399e-22	5.11317e-22	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9577873	9577873	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:9577873G>T	ENST00000301480.4	-	10	1963	c.1750C>A	c.(1750-1752)Cgc>Agc	p.R584S		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGGTATGAGCGCTCAGTGAAG	0.398000													71	159					4.83814e-26	7.97723e-26	1	1	0
GSDMA	284110	broad.mit.edu	37	17	38130567	38130567	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:38130567C>T	ENST00000301659.4	+	9	911	c.793C>T	c.(793-795)Cag>Tag	p.Q265*		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	265					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						AGAAGAAGTTCAGAGAGAGAC	0.527000													9	20					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98563387	98563387	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:98563387A>G	ENST00000359863.4	+	48	7233	c.7024A>G	c.(7024-7026)Atg>Gtg	p.M2342V	TRRAP_ENST00000355540.3_Missense_Mutation_p.M2324V|TRRAP_ENST00000446306.3_Missense_Mutation_p.M2324V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2342	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.M2324V(1)|p.M2342V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCATGGAGATGCGGAAGAA	0.537000													23	81					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102916203	102916203	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:102916203A>T	ENST00000359520.7	+	14	3539	c.3313A>T	c.(3313-3315)Ata>Tta	p.I1105L	TECPR2_ENST00000558678.1_Missense_Mutation_p.I1105L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1105							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGGAAGTCTCATAGGTGGGTG	0.458000													32	60					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87489351	87489351	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:87489351C>T	ENST00000327946.7	-	9	1339	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	GRID1_ENST00000536331.1_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	418						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCAAGCCCTTCTCTGAGTCCC	0.527000										Multiple Myeloma(13;0.14)			13	73					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5769049	5769049	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:5769049G>C	ENST00000414202.2	+	22	3408	c.3217G>C	c.(3217-3219)Gat>Cat	p.D1073H	KIAA1432_ENST00000418622.3_Missense_Mutation_p.D994H|KIAA1432_ENST00000381532.2_Missense_Mutation_p.D994H|KIAA1432_ENST00000251879.6_Missense_Mutation_p.D1073H|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D957H	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1073						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCTCTTAGAAGATGTGAGGTT	0.493000													19	169					0	0	1	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744502	31744502	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:31744502G>T	ENST00000399889.2	-	1	55	c.30C>A	c.(28-30)ttC>ttA	p.F10L		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	10						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGCGGGAGGAGAAGTTTCCAG	0.512000													56	259					9.59835e-30	1.62077e-29	1	1	0
HCFC2	29915	broad.mit.edu	37	12	104461837	104461837	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:104461837T>G	ENST00000229330.4	+	3	529	c.425T>G	c.(424-426)tTt>tGt	p.F142C		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	142					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTATTTGTTTGGTGGCCTG	0.408000													55	156					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269658	34269658	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:34269658C>A	ENST00000346562.2	+	11	2123	c.2049C>A	c.(2047-2049)gtC>gtA	p.V683V	NPAS3_ENST00000357798.5_Silent_p.V702V|NPAS3_ENST00000548645.1_Silent_p.V685V|NPAS3_ENST00000551492.1_Silent_p.V720V|NPAS3_ENST00000356141.4_Silent_p.V715V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCGACTCGGTCCTCAccccgc	0.781000													4	7					2.56e-06	2.96421e-06	1	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698207	111698207	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:111698207C>G	ENST00000340433.2	+	1	481	c.251C>G	c.(250-252)gCt>gGt	p.A84G		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	84							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACTTGACAGCTCTCCAAATC	0.458000													28	119					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46111048	46111048	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:46111048A>G	ENST00000321037.4	+	4	1263	c.1033A>G	c.(1033-1035)Atg>Gtg	p.M345V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	345						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TTTGCCTAGTATGCATCCATT	0.378000													25	206					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50011440	50011440	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:50011440G>T	ENST00000322246.4	-	2	189	c.190C>A	c.(190-192)Caa>Aaa	p.Q64K		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	64					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCATCACATTGATTTTTACAT	0.438000													41	100					4.01765e-15	5.848e-15	1	1	0
TMEM127	55654	broad.mit.edu	37	2	96919801	96919801	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:96919801G>A	ENST00000258439.2	-	4	718	c.462C>T	c.(460-462)atC>atT	p.I154I	TMEM127_ENST00000435268.1_Silent_p.I70I|TMEM127_ENST00000432959.1_Silent_p.I154I	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	154					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GCTGGGCCAAGATGAGTTCAG	0.532000													22	106					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198719620	198719620	+	Splice_Site	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:198719620G>A	ENST00000367376.2	+	29	3237		c.e29-1		PTPRC_ENST00000442510.2_Splice_Site|PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000348564.6_Splice_Site|PTPRC_ENST00000594404.1_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGTCTAAAAAGAGCTACTGGA	0.393000													32	133					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345389	119345389	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:119345389C>A	ENST00000338891.7	-	2	1192	c.749G>T	c.(748-750)gGc>gTc	p.G250V	FAM184A_ENST00000368475.4_Missense_Mutation_p.G130V|FAM184A_ENST00000352896.5_Missense_Mutation_p.G130V|FAM184A_ENST00000522284.1_Missense_Mutation_p.G130V|FAM184A_ENST00000521531.1_Missense_Mutation_p.G250V|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	250										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTCAACTTGCCTTCATAATC	0.413000													18	68					3.41278e-10	4.43892e-10	1	1	0
CYB5D2	124936	broad.mit.edu	37	17	4053260	4053260	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:4053260C>T	ENST00000301391.3	+	2	826	c.326C>T	c.(325-327)tCa>tTa	p.S109L	CYB5D2_ENST00000575251.1_5'UTR|CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000573984.1_5'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	109	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TCCGACCTGTCAGCCGCTGAG	0.483000													35	64					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616140	248616140	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:248616140C>A	ENST00000342927.3	+	1	64	c.42C>A	c.(40-42)gtC>gtA	p.V14V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	14					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)			CTAACTTCGTCCTCACAGGCC	0.507000													16	155					1.17739e-12	1.6335e-12	1	1	0
RNF149	284996	broad.mit.edu	37	2	101902614	101902614	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:101902614C>G	ENST00000295317.3	-	5	996	c.889G>C	c.(889-891)Gac>Cac	p.D297H		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	297						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						AGCCATGGGTCAATGCATATT	0.289000													29	124					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322710	55322710	+	Missense_Mutation	SNP	G	G	T	rs150782991		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:55322710G>T	ENST00000314644.2	+	1	928	c.928G>T	c.(928-930)Gta>Tta	p.V310L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATGCATATTTGTATATACACG	0.413000										HNSCC(20;0.049)			51	232					2.74695e-27	4.56837e-27	1	1	0
FUS	2521	broad.mit.edu	37	16	31196454	31196454	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:31196454G>A	ENST00000254108.7	+	6	823	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	FUS_ENST00000380244.3_Missense_Mutation_p.E239K|FUS_ENST00000568685.1_Missense_Mutation_p.E240K	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	240	Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGGTGGCTATGAACCCAGAGG	0.657000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								3	17					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2160657	2160657	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:2160657C>T	ENST00000378536.4	+	1	524	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	151					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		ATCTACTGCTCGCGCTGCACG	0.642000													3	15					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767635	77767635	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:77767635C>A	ENST00000521891.2	+	10	8926	c.8478C>A	c.(8476-8478)acC>acA	p.T2826T	ZFHX4_ENST00000455469.2_Silent_p.T2781T|ZFHX4_ENST00000518282.1_Silent_p.T2800T|ZFHX4_ENST00000050961.6_Silent_p.T2781T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2781						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGAAAGCACCACAGGAAGTT	0.473000										HNSCC(33;0.089)			37	69					3.21399e-22	5.11317e-22	1	1	0
FMNL2	114793	broad.mit.edu	37	2	153399312	153399312	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:153399312G>T	ENST00000288670.9	+	3	628	c.261G>T	c.(259-261)ctG>ctT	p.L87L		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	87	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAGGCTATCTGGATCCAGCTG	0.433000													6	68					0.00198382	0.00207829	1	1	0
RASL11B	65997	broad.mit.edu	37	4	53731603	53731603	+	Silent	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:53731603T>C	ENST00000248706.3	+	4	596	c.378T>C	c.(376-378)taT>taC	p.Y126Y	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	126	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			ACAAGAGCTATGAACTCATCA	0.552000													17	119					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83239299	83239299	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:83239299C>A	ENST00000296591.5	-	11	1800	c.1382G>T	c.(1381-1383)tGg>tTg	p.W461L	EDIL3_ENST00000380138.3_Missense_Mutation_p.W451L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	461	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTACCAGGACCAAGGAAGGAT	0.478000													23	80					6.44725e-10	8.30165e-10	1	1	0
ILDR2	387597	broad.mit.edu	37	1	166891880	166891880	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:166891880C>A	ENST00000271417.3	-	8	1216	c.1161G>T	c.(1159-1161)ggG>ggT	p.G387G	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Silent_p.G368G|ILDR2_ENST00000469934.2_Silent_p.G387G|ILDR2_ENST00000528703.1_Silent_p.G328G|ILDR2_ENST00000525740.1_Silent_p.G260G|ILDR2_ENST00000526687.1_Silent_p.G279G	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	387						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TGGCTGAGGGCCCGCGGCTTG	0.587000													59	293					1.41401e-22	2.27945e-22	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200948841	200948841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:200948841G>A	ENST00000332129.2	-	29	4259	c.3943C>T	c.(3943-3945)Cga>Tga	p.R1315*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.R1315*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.R1328*|KIF21B_ENST00000422435.2_Nonsense_Mutation_p.R1328*	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1328					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTGCAGCTTCGGTCTGTGAGA	0.607000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	203					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41812836	41812836	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:41812836G>T	ENST00000396930.3	-	10	2119	c.1576C>A	c.(1576-1578)Cca>Aca	p.P526T	KAT6A_ENST00000406337.1_Missense_Mutation_p.P526T|KAT6A_ENST00000265713.2_Missense_Mutation_p.P526T|KAT6A_ENST00000485568.1_Missense_Mutation_p.P526T	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	526	Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TGAGGATATGGGGAGGAGTAC	0.458000													4	62					0.000602214	0.000639593	1	1	0
SPATC1L	84221	broad.mit.edu	37	21	47588330	47588330	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:47588330C>A	ENST00000291672.5	-	3	1497	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1			spermatogenesis and centriole associated 1-like																		AGGGTCTTGTCCACCAGTGAG	0.627000													6	19					3.59834e-05	3.97521e-05	1	1	0
GSAP	54103	broad.mit.edu	37	7	77026305	77026305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:77026305G>A	ENST00000257626.7	-	5	439	c.361C>T	c.(361-363)Caa>Taa	p.Q121*		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TTACCTGGTTGAAGTTCGTTC	0.318000													9	37					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216107963	216107963	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:216107963G>A	ENST00000366943.2	-	38	7681	c.7295C>T	c.(7294-7296)cCa>cTa	p.P2432L	USH2A_ENST00000307340.3_Missense_Mutation_p.P2432L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2432	Fibronectin type-III 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)		CTTACCTCCTGGAGGCATTGC	0.338000										HNSCC(13;0.011)			24	141					0	0	1	0	0
DDX6	1656	broad.mit.edu	37	11	118629487	118629487	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:118629487G>A	ENST00000264018.4	-	9	1294	c.989C>T	c.(988-990)tCc>tTc	p.S330F	DDX6_ENST00000526070.2_Missense_Mutation_p.S330F|DDX6_ENST00000534980.1_Missense_Mutation_p.S330F	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	330	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TCTTACCCTGGAGAAAAGTGT	0.418000			T	IGH@	B-NHL								18	77					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28530207	28530207	+	Missense_Mutation	SNP	G	G	C	rs75354642		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:28530207G>C	ENST00000401766.2	-	13	2313	c.1801C>G	c.(1801-1803)Cca>Gca	p.P601A	SLC6A4_ENST00000261707.3_Missense_Mutation_p.P601A			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	601					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AATGTCCCTGGAGTGATGATC	0.368000													6	170					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32154222	32154222	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:32154222G>A	ENST00000375050.4	-	9	1500	c.1230C>T	c.(1228-1230)acC>acT	p.T410T		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	410							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTGAAGAGGGGGTCACAGCCT	0.562000													3	35					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95264416	95264416	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:95264416C>A	ENST00000297596.2	-	4	708	c.444G>T	c.(442-444)caG>caT	p.Q148H	GEM_ENST00000396194.2_Missense_Mutation_p.Q148H	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	148					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CGTCCCCGACCTGCATGCAGT	0.517000													15	108					9.7654e-05	0.000106809	1	1	0
TTN	7273	broad.mit.edu	37	2	179426018	179426018	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:179426018C>T	ENST00000589042.1	-	326	85065	c.84841G>A	c.(84841-84843)Gga>Aga	p.G28281R	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26640R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19216R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25713R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G19408R|TTN_ENST00000359218.5_Missense_Mutation_p.G19341R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26640	Ig-like 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTAGCTCCACCATCATAA	0.413000													20	125					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41039555	41039555	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:41039555A>G	ENST00000399564.4	-	20	2506	c.2056T>C	c.(2056-2058)Tgt>Cgt	p.C686R	MROH2B_ENST00000506092.2_Missense_Mutation_p.C241R	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTACCTTACATCGATTCATG	0.323000													10	18					0	0	1	0	0
STEAP2-AS1	100874100	broad.mit.edu	37	7	89749127	89749127	+	RNA	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:89749127G>T	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA																							TCCGGGAAGAGGTGCACGAAC	0.582000													3	32					0.00909568	0.0093507	1	1	0
EYA1	2138	broad.mit.edu	37	8	72129205	72129205	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:72129205G>T	ENST00000340726.3	-	13	1833	c.1194C>A	c.(1192-1194)gaC>gaA	p.D398E	EYA1_ENST00000303824.7_Missense_Mutation_p.D392E|EYA1_ENST00000388740.3_Missense_Mutation_p.D365E|EYA1_ENST00000388741.2_Missense_Mutation_p.D364E|EYA1_ENST00000419131.1_Missense_Mutation_p.D363E|EYA1_ENST00000388742.4_Missense_Mutation_p.D398E|EYA1_ENST00000388743.2_Missense_Mutation_p.D397E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	398					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTCACCTTAGGTCCTGTCCGT	0.358000													49	124					7.05377e-20	1.09947e-19	1	1	0
CFHR3	10878	broad.mit.edu	37	1	196749104	196749104	+	Splice_Site	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:196749104G>T	ENST00000471440.2	+	3	504		c.e3+1		CFHR3_ENST00000367425.4_Splice_Site|CFHR3_ENST00000391985.3_Splice_Site					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						ATCCGTGTCAGTAAGTACACC	0.478000													26	99					1.50538e-07	1.81684e-07	1	1	0
BRD1	23774	broad.mit.edu	37	22	50169309	50169309	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr22:50169309C>G	ENST00000216267.8	-	11	3409	c.2923G>C	c.(2923-2925)Ggg>Cgg	p.G975R	BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000542442.1_Missense_Mutation_p.G663R|BRD1_ENST00000404760.1_Missense_Mutation_p.G1106R|BRD1_ENST00000404034.1_Missense_Mutation_p.G975R|BRD1_ENST00000342989.5_Missense_Mutation_p.G701R	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	975	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATGTGCTCCCCAATCTTCAGC	0.562000													47	145					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086273	126086273	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:126086273C>G	ENST00000339582.2	-	10	3392	c.2584G>C	c.(2584-2586)Gct>Cct	p.A862P	GRM8_ENST00000444921.2_Missense_Mutation_p.A862P|GRM8_ENST00000358373.3_Missense_Mutation_p.A862P			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	862					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATGGTGGCAGCTGTCACCACA	0.423000										HNSCC(24;0.065)			38	193					0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89763927	89763927	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:89763927C>T	ENST00000289805.5	-	3	1158	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	364										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGCAGGGCGCCAGGGGACAGG	0.697000													7	34					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35740331	35740331	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:35740331G>A	ENST00000440995.2	+	23	3277	c.3277G>A	c.(3277-3279)Gat>Aat	p.D1093N	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.D1098N			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1098					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGTGGGATGATGAGGAAAC	0.443000													28	206					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48550797	48550797	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:48550797C>T	ENST00000537810.1	-	40	5402	c.4798G>A	c.(4798-4800)Gtg>Atg	p.V1600M	FRYL_ENST00000507873.2_De_novo_Start_InFrame|FRYL_ENST00000503238.1_Missense_Mutation_p.V1600M|FRYL_ENST00000358350.4_Missense_Mutation_p.V1600M|FRYL_ENST00000264319.7_De_novo_Start_InFrame			O94915	FRYL_HUMAN	FRY-like	1600					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAAAGGATCACTGCTATGTTA	0.333000													10	45					0	0	1	0	0
HIATL2	84278	broad.mit.edu	37	9	99711965	99711965	+	Splice_Site	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:99711965C>A	ENST00000602917.1	-	4	481		c.e4-1		HIATL2_ENST00000375223.4_Splice_Site					hippocampus abundant transcript-like 2																		AGAGCAGGCCCTGGAGAAGAA	0.438000													28	104					1.17739e-12	1.6335e-12	1	1	0
DOT1L	84444	broad.mit.edu	37	19	2220221	2220221	+	Splice_Site	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:2220221G>T	ENST00000398665.3	+	23	2842	c.2806_splice	c.e23+1	p.G936_splice		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	936						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCCCGCAGGTAACGCCCC	0.647000													3	13					0.004672	0.00484178	1	1	0
AEBP1	165	broad.mit.edu	37	7	44153412	44153412	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:44153412C>A	ENST00000223357.3	+	21	3334	c.3029C>A	c.(3028-3030)cCt>cAt	p.P1010H	AEBP1_ENST00000450684.2_Missense_Mutation_p.P585H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1010	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCATCGCGCCCTATGACCCCC	0.647000													31	115					1.80694e-10	2.36624e-10	1	1	0
APBB1IP	54518	broad.mit.edu	37	10	26800825	26800825	+	Silent	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:26800825A>G	ENST00000376236.4	+	7	1136	c.681A>G	c.(679-681)gaA>gaG	p.E227E		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	227	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TCTACCCGGAACTACAAATTG	0.443000													33	89					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50313250	50313250	+	RNA	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:50313250G>T	ENST00000418948.1	+	0	2054							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTTTCCAGCGCGCAGGGGTG	0.692000													5	26					5.9392e-07	6.97132e-07	1	1	0
HTATSF1	27336	broad.mit.edu	37	X	135593335	135593335	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:135593335A>T	ENST00000535601.1	+	10	1853	c.1431A>T	c.(1429-1431)gaA>gaT	p.E477D	HTATSF1_ENST00000218364.4_Missense_Mutation_p.E477D	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	477	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAGGGTTTGAAGGCAGCTGCT	0.443000													38	77					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107040	168107040	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:168107040C>A	ENST00000409195.1	+	9	9227	c.9138C>A	c.(9136-9138)ccC>ccA	p.P3046P	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.P3046P|XIRP2_ENST00000409273.1_Silent_p.P2824P|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2871					actin cytoskeleton organization	cell junction	actin binding	p.P3046P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAATAAACCCACTAGTCTTG	0.338000													23	167					1.64293e-13	2.33406e-13	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94037200	94037200	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:94037200A>C	ENST00000297268.6	+	13	1107	c.636A>C	c.(634-636)caA>caC	p.Q212H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	212					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCAGGTCAAACAGTAAGTA	0.343000										HNSCC(75;0.22)			5	56					0	0	1	0	0
TMEM52B	120939	broad.mit.edu	37	12	10339055	10339055	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:10339055T>G	ENST00000298530.3	+	3	692	c.114T>G	c.(112-114)tgT>tgG	p.C38W	TMEM52B_ENST00000381923.2_Missense_Mutation_p.C58W|TMEM52B_ENST00000536952.1_Missense_Mutation_p.C58W	NM_153022.2	NP_694567.1			transmembrane protein 52B																		TTCTCCTGTGTGGCCTGACGT	0.592000													7	53					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438966	120438966	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:120438966G>A	ENST00000424086.1	+	2	1010	c.537G>A	c.(535-537)ggG>ggA	p.G179G	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.G179G|TMEM177_ENST00000401466.1_Silent_p.G179G|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	179						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GCCTGGCAGGGACCTGGGCAC	0.647000													8	74					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43268991	43268991	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:43268991C>A	ENST00000372585.5	+	6	1041	c.946C>A	c.(946-948)Cag>Aag	p.Q316K	SLC22A7_ENST00000372589.3_Missense_Mutation_p.Q314K|SLC22A7_ENST00000372574.3_Missense_Mutation_p.Q314K|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	316						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAGCTTCAGCCAGGAGGTGAG	0.582000													12	79					9.31168e-06	1.05908e-05	1	1	0
DMD	1756	broad.mit.edu	37	X	32662312	32662312	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:32662312T>C	ENST00000357033.4	-	11	1474	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R	DMD_ENST00000288447.4_Missense_Mutation_p.Q415R|DMD_ENST00000378677.2_Missense_Mutation_p.Q419R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	423					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAGATTCATCTGCTCTTGTAC	0.383000													24	111					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27476020	27476020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:27476020G>T	ENST00000356183.4	-	34	5508	c.5493C>A	c.(5491-5493)gaC>gaA	p.D1831E	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1831E	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1831						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGCCTGGGGGTCTTCTCTCT	0.677000													18	64					5.35267e-07	6.3214e-07	1	1	0
DSCR4	10281	broad.mit.edu	37	21	39427008	39427008	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:39427008G>T	ENST00000328264.3	-	3	402	c.298C>A	c.(298-300)Ctc>Atc	p.L100I	DSCR4_ENST00000398948.1_Intron	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	100										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						TTCTTGTGGAGCCCATGGAGG	0.468000													39	120					2.04263e-09	2.60402e-09	1	1	0
GDPD5	81544	broad.mit.edu	37	11	75146615	75146615	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:75146615G>T	ENST00000526177.1	-	13	3219	c.1341C>A	c.(1339-1341)acC>acA	p.T447T	GDPD5_ENST00000533805.1_Silent_p.T340T|GDPD5_ENST00000529721.1_Silent_p.T585T|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Silent_p.T466T|GDPD5_ENST00000376282.3_Silent_p.T466T|GDPD5_ENST00000336898.3_Silent_p.T585T			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	585	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGCCCACAGGGGTGGCGGTGC	0.582000													20	93					0.000295444	0.000317726	1	1	0
OR2T3	343173	broad.mit.edu	37	1	248637458	248637458	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:248637458C>T	ENST00000359594.2	+	1	832	c.807C>T	c.(805-807)tcC>tcT	p.S269S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TCCCGAGTTCCTACCACACAG	0.547000													43	457					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89591018	89591018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:89591018G>T	ENST00000402738.1	+	15	1880	c.1641G>T	c.(1639-1641)tgG>tgT	p.W547C	HERC3_ENST00000543130.1_5'UTR|HERC3_ENST00000264345.3_Missense_Mutation_p.W547C	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	547					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AAGATAACTGGTGGTCTCAGG	0.373000													14	111					1.49906e-05	1.68262e-05	1	1	0
PHLDB1	23187	broad.mit.edu	37	11	118527482	118527482	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:118527482G>T	ENST00000361417.2	+	24	4494	c.4083G>T	c.(4081-4083)tgG>tgT	p.W1361C	PHLDB1_ENST00000527898.1_Missense_Mutation_p.W401C|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Missense_Mutation_p.W493C|PHLDB1_ENST00000356063.5_Missense_Mutation_p.W1303C	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1361	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGCGTATCTGGATGGATGTCA	0.557000													13	74					2.27111e-07	2.72817e-07	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55451187	55451187	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:55451187G>C	ENST00000588756.1	-	6	1486	c.1000C>G	c.(1000-1002)Ctg>Gtg	p.L334V	NLRP7_ENST00000448121.2_Missense_Mutation_p.L334V|NLRP7_ENST00000592784.1_Missense_Mutation_p.L334V|NLRP7_ENST00000340844.2_Missense_Mutation_p.L334V|NLRP7_ENST00000328092.5_Missense_Mutation_p.L334V|NLRP7_ENST00000590030.1_Missense_Mutation_p.L334V|NLRP7_ENST00000446217.1_Missense_Mutation_p.L362V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	334	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AAGTGTCTCAGGAAATAGGCC	0.647000													14	36					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97720634	97720634	+	Silent	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:97720634T>C	ENST00000275053.4	-	6	817	c.552A>G	c.(550-552)ctA>ctG	p.L184L	MMS22L_ENST00000506256.1_5'UTR|MMS22L_ENST00000369251.2_Silent_p.L184L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	184					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAAGTTCAGATAGGTGTCCAA	0.378000													32	82					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156933010	156933010	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:156933010C>T	ENST00000368194.3	-	13	2164	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	ARHGEF11_ENST00000361409.2_Silent_p.A335A	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	335	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACTGGGGTCCGCCTGAGAGA	0.532000													10	35					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100513968	100513968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:100513968G>T	ENST00000395996.1	+	26	4035	c.3924G>T	c.(3922-3924)ttG>ttT	p.L1308F	VPS13B_ENST00000357162.2_Missense_Mutation_p.L1308F|VPS13B_ENST00000358544.2_Missense_Mutation_p.L1308F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1308					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTGACCTTGGAACAAACTA	0.388000													22	189					3.28513e-13	4.60756e-13	1	1	0
RGS12	6002	broad.mit.edu	37	4	3441287	3441287	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:3441287A>T	ENST00000344733.5	+	18	5124	c.4220A>T	c.(4219-4221)cAg>cTg	p.Q1407L	RGS12_ENST00000338806.4_Missense_Mutation_p.Q759L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1407						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGGGGCACAGGCTGGCCCT	0.667000													6	48					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053916	238053916	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:238053916A>G	ENST00000366570.4	-	1	178	c.20T>C	c.(19-21)gTt>gCt	p.V7A	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	7					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACACAGCAAAACGCACCGCAG	0.572000													9	56					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982725	57982725	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:57982725T>C	ENST00000309433.6	+	1	509	c.509T>C	c.(508-510)cTg>cCg	p.L170P		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATTATTGCTCTGACACACACC	0.478000													96	268					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892596	22892596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr22:22892596C>A	ENST00000543184.1	-	4	1367	c.505G>T	c.(505-507)Gag>Tag	p.E169*	PRAME_ENST00000405655.3_Nonsense_Mutation_p.E169*|PRAME_ENST00000398741.1_Nonsense_Mutation_p.E169*|PRAME_ENST00000539862.1_Nonsense_Mutation_p.E153*|PRAME_ENST00000402697.1_Nonsense_Mutation_p.E169*|PRAME_ENST00000398743.2_Nonsense_Mutation_p.E169*|PRAME_ENST00000424204.2_Nonsense_Mutation_p.E153*	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	169					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.E169K(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AAGGGCTGCTCTGCCTCTGTG	0.493000													36	123					2.42023e-17	3.66125e-17	1	1	0
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													8	27					0.0809354	0.0814644	1	1	0
MLKL	197259	broad.mit.edu	37	16	74716671	74716671	+	Silent	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:74716671T>C	ENST00000308807.7	-	6	1297	c.834A>G	c.(832-834)caA>caG	p.Q278Q	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	278	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CAATGGAGAATTGAGGCGGAG	0.562000													7	51					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76446405	76446405	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:76446405C>A	ENST00000389840.5	-	68	11053	c.10929G>T	c.(10927-10929)agG>agT	p.R3643S	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R3652S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGAGATGCCCTCTCCGCAG	0.532000													5	31					0.00116845	0.00123247	1	1	0
B3GNT7	93010	broad.mit.edu	37	2	232262926	232262926	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:232262926G>T	ENST00000287590.5	+	2	757	c.496G>T	c.(496-498)Ggg>Tgg	p.G166W	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	166					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GTCCGCGGGTGGGGGCCGAGG	0.701000													8	25					5.18039e-06	5.93587e-06	1	1	0
EIF4A1	1973	broad.mit.edu	37	17	7480984	7480984	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:7480984C>T	ENST00000293831.8	+	8	882	c.866C>T	c.(865-867)aCc>aTc	p.T289I	EIF4A1_ENST00000577269.1_Missense_Mutation_p.T289I|EIF4A1_ENST00000582746.1_Missense_Mutation_p.T289I|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	289	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GACTGGCTCACCGAGAAGATG	0.542000													36	133					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54153115	54153115	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:54153115C>A	ENST00000404125.1	-	13	1694	c.1639G>T	c.(1639-1641)Gtc>Ttc	p.V547F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	547					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACTGTAAGACGAAATCCTCA	0.368000													16	81					2.94398e-08	3.65035e-08	1	1	0
HYAL4	23553	broad.mit.edu	37	7	123514854	123514854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:123514854G>T	ENST00000223026.4	+	4	1632	c.994G>T	c.(994-996)Gga>Tga	p.G332*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.G332*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	332					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGCTGCCTTGGGAGCTGCAGG	0.373000													12	55					1.52009e-12	2.09762e-12	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168114861	168114861	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:168114861C>T	ENST00000409728.1	+	11	1993	c.1904C>T	c.(1903-1905)cCt>cTt	p.P635L	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.P635L|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.P602L|XIRP2_ENST00000409605.1_Missense_Mutation_p.P380L|XIRP2_ENST00000409756.2_Missense_Mutation_p.P602L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2714					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTTTGCAGCCTTATCTACAG	0.378000													16	180					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8460562	8460562	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:8460562C>A	ENST00000381196.4	-	30	4267	c.3724G>T	c.(3724-3726)Gca>Tca	p.A1242S	PTPRD_ENST00000397611.3_Missense_Mutation_p.A828S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A831S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A821S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1242S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1229S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A828S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1220S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A831S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1242S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A821S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1242					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGCTGGTTGCATACATCTTC	0.423000										TSP Lung(15;0.13)			14	79					9.31168e-06	1.05908e-05	1	1	0
CNR1	1268	broad.mit.edu	37	6	88854582	88854582	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:88854582G>A	ENST00000537554.1	-	2	3974	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	CNR1_ENST00000549716.1_Silent_p.L77L|CNR1_ENST00000535130.1_Silent_p.L138L|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Silent_p.L105L|CNR1_ENST00000369499.2_Silent_p.L138L|CNR1_ENST00000549890.1_Silent_p.L138L|CNR1_ENST00000428600.2_Silent_p.L138L|CNR1_ENST00000369501.2_Silent_p.L138L	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	138					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATGACGCACAGCACCAGGAGG	0.612000													4	39					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48431674	48431674	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:48431674G>T	ENST00000435803.1	+	38	11835	c.11811G>T	c.(11809-11811)ctG>ctT	p.L3937L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3937	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACATTTGCTGCTCTTTGCTT	0.527000													20	87					8.04996e-18	1.22985e-17	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299371	125299371	+	Silent	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:125299371C>G	ENST00000538699.1	-	2	617	c.537G>C	c.(535-537)ctG>ctC	p.L179L	DCAF12L2_ENST00000360028.2_Silent_p.L179L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	179										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCAGGGTGGGCAGCTGGTAGA	0.662000													28	74					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74117251	74117251	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:74117251C>A	ENST00000370336.4	+	8	1108	c.950C>A	c.(949-951)cCc>cAc	p.P317H	DDX43_ENST00000479773.1_3'UTR|DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	317	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGGAATAGACCCGGCATGTTA	0.363000													42	159					2.00842e-17	3.05629e-17	1	1	0
RPE65	6121	broad.mit.edu	37	1	68910559	68910559	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:68910559G>T	ENST00000262340.5	-	4	306	c.253C>A	c.(253-255)Cgc>Agc	p.R85S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	85			R -> H (in RP20; uncertain pathogenicity).		visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCATCAGTGCGGATGAACCTG	0.458000													10	64					7.48243e-07	8.7295e-07	1	1	0
ARID2	196528	broad.mit.edu	37	12	46244457	46244457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:46244457C>T	ENST00000334344.6	+	15	2723	c.2551C>T	c.(2551-2553)Cca>Tca	p.P851S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.P461S|ARID2_ENST00000422737.1_Missense_Mutation_p.P702S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	851	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATAGCACCCCCACAGTATGT	0.443000			"""N, S, F"""		hepatocellular carcinoma								30	149					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201645	248201645	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:248201645G>A	ENST00000366479.2	+	1	172	c.76G>A	c.(76-78)Gta>Ata	p.V26I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V26L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGGCCTTTTCGTATTCACCCT	0.378000													83	276					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329933	75329933	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:75329933C>A	ENST00000556084.2	-	1	604	c.605G>T	c.(604-606)gGg>gTg	p.G202V	PROX2_ENST00000445876.1_Missense_Mutation_p.G202V|PROX2_ENST00000556489.2_Missense_Mutation_p.G202V	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	202					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TTTTTCTGCCCCAGAGAGGTC	0.577000													30	66					1.06801e-11	1.44275e-11	1	1	0
NINL	22981	broad.mit.edu	37	20	25481503	25481503	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:25481503C>A	ENST00000278886.6	-	8	1078	c.1005G>T	c.(1003-1005)ggG>ggT	p.G335G	NINL_ENST00000422516.1_Silent_p.G335G	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	335					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CATTCTGAATCCCCTCCTGGG	0.597000													4	42					0.014758	0.0150512	1	1	0
MYBL2	4605	broad.mit.edu	37	20	42311498	42311498	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:42311498G>T	ENST00000217026.4	+	4	378	c.251G>T	c.(250-252)gGg>gTg	p.G84V	MYBL2_ENST00000396863.4_Missense_Mutation_p.G60V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	84	HTH myb-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTTGTCAAGGGGCCATGGACC	0.512000													42	199					1.41504e-22	2.27945e-22	1	1	0
CRB1	23418	broad.mit.edu	37	1	197398725	197398725	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:197398725G>T	ENST00000367397.1	+	4	1824	c.966G>T	c.(964-966)ccG>ccT	p.P322P	CRB1_ENST00000535699.1_Silent_p.P917P|CRB1_ENST00000367400.3_Silent_p.P941P|CRB1_ENST00000367399.2_Silent_p.P829P|CRB1_ENST00000544212.1_Silent_p.P422P|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	941	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGCCAGCCGGTGCTTCAAG	0.502000													23	81					2.52088e-20	3.94527e-20	1	1	0
INTS8	55656	broad.mit.edu	37	8	95839953	95839953	+	Silent	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:95839953A>T	ENST00000523731.1	+	4	583	c.450A>T	c.(448-450)gcA>gcT	p.A150A	INTS8_ENST00000447247.1_Silent_p.A150A	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	150					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCTTCAGGGCAATTAGGACAA	0.353000													12	164					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250547	28250547	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:28250547C>G	ENST00000305242.5	-	10	1428	c.1336G>C	c.(1336-1338)Gat>Cat	p.D446H	ARMC4_ENST00000537576.1_Missense_Mutation_p.D138H|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.D303H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	446							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GATGGCAAATCTGCACTTGCT	0.383000													38	124					0	0	1	0	0
FAM26D	221301	broad.mit.edu	37	6	116879064	116879064	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:116879064C>A	ENST00000368596.3	+	2	679	c.635C>A	c.(634-636)cCc>cAc	p.P212H	FAM26D_ENST00000368597.2_Missense_Mutation_p.P26H|FAM26D_ENST00000405399.1_Missense_Mutation_p.P69H|FAM26D_ENST00000416171.2_Missense_Mutation_p.P68H			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	212						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TGCTGCTCTCCCCTCACCTCT	0.488000													27	101					1.42536e-11	1.92211e-11	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139642992	139642992	+	Splice_Site	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:139642992C>A	ENST00000303045.6	-	50	4056		c.e50-1		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATCTGCCCCCTAAAAAAGAC	0.443000										HNSCC(7;0.00092)			100	133					6.65942e-36	1.14459e-35	1	1	0
MGA	23269	broad.mit.edu	37	15	42058273	42058273	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:42058273G>T	ENST00000219905.7	+	24	8174	c.7993G>T	c.(7993-7995)Gat>Tat	p.D2665Y	MGA_ENST00000545763.1_Missense_Mutation_p.D2456Y|MGA_ENST00000389936.4_Missense_Mutation_p.D2626Y|MGA_ENST00000570161.1_Missense_Mutation_p.D2665Y|MGA_ENST00000566586.1_Missense_Mutation_p.D2456Y	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2626						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGTTTGGTAGATATGGGTGG	0.373000													39	84					9.62906e-15	1.39368e-14	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1965378	1965378	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:1965378G>A	ENST00000382722.5	-	21	2388	c.2026C>T	c.(2026-2028)Cac>Tac	p.H676Y	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.H612Y|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.H537Y|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.H651Y|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.H612Y|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.H676Y	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	676						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGTCTGGGTGAAGCAAGTCA	0.517000													13	267					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52861904	52861904	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:52861904G>T	ENST00000371568.3	-	5	753	c.535C>A	c.(535-537)Cca>Aca	p.P179T	ORC1_ENST00000371566.1_Missense_Mutation_p.P179T	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	179					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTCTCTTGTGGTTTATTCAAC	0.463000													11	122					3.07112e-06	3.54537e-06	1	1	0
RP11-337C18.8	0	broad.mit.edu	37	1	146649699	146649699	+	RNA	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:146649699C>T	ENST00000607149.1	+	0	350																											CGCCATGTGCCTCCGCCGCCC	0.706000													4	21					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522285	57522285	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:57522285C>A	ENST00000420713.1	+	2	271	c.159C>A	c.(157-159)gtC>gtA	p.V53V		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAAACCTGGTCTCCCTGGGTG	0.368000													17	148					2.89027e-11	3.86373e-11	1	1	0
SULT1C3	442038	broad.mit.edu	37	2	108869887	108869887	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:108869887G>C	ENST00000329106.2	+	3	388	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	SULT1C3_ENST00000376700.1_Missense_Mutation_p.E130Q	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	130						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TATCTGGAAAGAAAACTGCAA	0.348000													15	72					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151062	145151062	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:145151062G>C	ENST00000318911.4	+	3	435	c.362G>C	c.(361-363)tGc>tCc	p.C121S		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	121	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGCAGGTGTGCGCCTCCTGC	0.597000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	123	159					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154564584	154564584	+	Silent	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:154564584A>T	ENST00000404039.1	+	10	1463	c.876A>T	c.(874-876)ctA>ctT	p.L292L	DPP6_ENST00000377770.3_Silent_p.L356L|DPP6_ENST00000332007.3_Silent_p.L294L|DPP6_ENST00000427557.1_Silent_p.L249L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	356					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCATTTCCCTACACGTTATTG	0.463000													9	27					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558301	159558301	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:159558301T>A	ENST00000255040.2	+	2	572	c.475T>A	c.(475-477)Tat>Aat	p.Y159N		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	159	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACAGGATTCCTATGGGGGCAA	0.498000													25	59					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287806	16287806	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr22:16287806C>A	ENST00000343518.6	-	1	131	c.80G>T	c.(79-81)tGg>tTg	p.W27L		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	27										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTGGCGGCACCACTTGCCCAT	0.572000													25	132					4.87955e-14	6.95788e-14	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152553322	152553322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:152553322G>A	ENST00000367255.5	-	113	21392	c.20791C>T	c.(20791-20793)Cag>Tag	p.Q6931*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q6860*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q1455*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q6931*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q6543*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q6860*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6931					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATCCTTCTGAATAACATTT	0.338000										HNSCC(10;0.0054)			42	94					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130008431	130008431	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:130008431C>T	ENST00000485477.1	+	12	2433	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L	CPA5_ENST00000355388.3_Missense_Mutation_p.P435L|CPA5_ENST00000466363.2_Missense_Mutation_p.P435L|CPA5_ENST00000461828.1_Missense_Mutation_p.P435L|CPA5_ENST00000431780.2_3'UTR|CPA5_ENST00000474905.1_Missense_Mutation_p.P435L|CPA5_ENST00000393213.3_Missense_Mutation_p.P435L			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	435					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTGAATCACCCCTACTAGCAG	0.617000													19	96					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213470	200213470	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:200213470C>A	ENST00000443023.1	-	6	2415	c.950G>T	c.(949-951)aGt>aTt	p.S317I	SATB2_ENST00000417098.1_Missense_Mutation_p.S376I|SATB2_ENST00000457245.1_Missense_Mutation_p.S376I|SATB2_ENST00000428695.1_Missense_Mutation_p.S258I|SATB2_ENST00000260926.5_Missense_Mutation_p.S376I			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	376						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGGGACACACTGGCCCTCTT	0.483000													23	148					8.24728e-16	1.21191e-15	1	1	0
UPF2	26019	broad.mit.edu	37	10	12071172	12071172	+	Silent	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:12071172T>A	ENST00000356352.2	-	2	1190	c.717A>T	c.(715-717)tcA>tcT	p.S239S	UPF2_ENST00000397053.2_Silent_p.S239S|UPF2_ENST00000357604.5_Silent_p.S239S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	239	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CCTGAAGAAGTGATGGGGCAA	0.413000													20	94					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1880942	1880942	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:1880942A>T	ENST00000505790.1	-	4	760	c.304T>A	c.(304-306)Ttt>Att	p.F102I	IRX4_ENST00000231357.2_Missense_Mutation_p.F102I|IRX4_ENST00000513692.1_Missense_Mutation_p.F102I|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	102					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TTGGAATCAAAGCTGTTCTGT	0.622000													48	93					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53554610	53554610	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:53554610A>T	ENST00000371494.4	-	10	1530	c.1403T>A	c.(1402-1404)cTg>cAg	p.L468Q	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	468						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCCCGCTGCCAGCGCATCACC	0.607000													13	62					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17726837	17726837	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:17726837A>T	ENST00000355815.4	-	2	345	c.176T>A	c.(175-177)tTc>tAc	p.F59Y	SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000435530.2_Intron|SREBF1_ENST00000261646.5_Intron|SREBF1_ENST00000583732.1_5'UTR	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	30	Transcriptional activation (acidic).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AATACCTTCGAAAGTGCAATC	0.652000													6	44					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	82072757	82072757	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:82072757G>C	ENST00000356860.3	-	1	357	c.19C>G	c.(19-21)Ctg>Gtg	p.L7V	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L7V|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.L7V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	7						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTCAAGGCCAGCAGGCAGCCA	0.652000													4	25					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42355961	42355961	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:42355961G>T	ENST00000554171.1	+	5	2565	c.133G>T	c.(133-135)Gtt>Ttt	p.V45F	LRFN5_ENST00000298119.4_Missense_Mutation_p.V45F|LRFN5_ENST00000554120.1_Missense_Mutation_p.V45F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	45	LRRNT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTTTTATTTGTTCCACCAAA	0.408000										HNSCC(30;0.082)			28	50					1.39806e-14	2.01971e-14	1	1	0
OR10V1	390201	broad.mit.edu	37	11	59481018	59481018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:59481018G>T	ENST00000307552.2	-	1	319	c.301C>A	c.(301-303)Cag>Aag	p.Q101K	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AAAAACATCTGGGTGCCACAT	0.473000													14	58					1.52009e-12	2.09762e-12	1	1	0
PHF2	5253	broad.mit.edu	37	9	96438008	96438008	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:96438008G>C	ENST00000359246.4	+	20	3136	c.2769G>C	c.(2767-2769)gaG>gaC	p.E923D	PHF2_ENST00000375376.4_Missense_Mutation_p.E154D	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	923					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CTGTGCGTGAGGGTACACGGG	0.652000													11	65					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230183	7230183	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:7230183G>C	ENST00000379938.2	+	10	2388	c.1851G>C	c.(1849-1851)gaG>gaC	p.E617D	RREB1_ENST00000349384.6_Missense_Mutation_p.E617D|RREB1_ENST00000379933.3_Missense_Mutation_p.E617D|RREB1_ENST00000334984.6_Missense_Mutation_p.E617D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	617					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCAAGCAGGAGATCACAGAGG	0.642000													39	35					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272834	1272834	+	Silent	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:1272834G>C	ENST00000447027.1	+	31	14791	c.14733G>C	c.(14731-14733)gtG>gtC	p.V4911V	MUC5B_ENST00000529681.1_Silent_p.V4908V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4908	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCTGCAGTGCTCCCCAGCA	0.642000													10	27					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698859	111698859	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:111698859G>A	ENST00000340433.2	+	1	1133	c.903G>A	c.(901-903)ccG>ccA	p.P301P		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	301							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCGAGCTCCGGCAACGACAA	0.468000													28	61					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3687145	3687145	+	Silent	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:3687145G>C	ENST00000344754.4	-	2	257	c.258C>G	c.(256-258)cgC>cgG	p.R86R	SIGLEC1_ENST00000202578.4_Silent_p.R86R	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	86	Ig-like V-type.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGAACTCGGTGCGGCCGCGGA	0.647000													4	58					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720401	10720401	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:10720401C>A	ENST00000377022.3	-	6	1015	c.698G>T	c.(697-699)cGg>cTg	p.R233L	CASZ1_ENST00000344008.5_Missense_Mutation_p.R233L	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAACCGCGCCCGCTTGCTGAG	0.657000													9	49					0.00829132	0.00853518	1	1	0
AGBL1	123624	broad.mit.edu	37	15	86806066	86806066	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:86806066C>A	ENST00000441037.2	+	9	984	c.889C>A	c.(889-891)Cct>Act	p.P297T	AGBL1_ENST00000389298.3_Missense_Mutation_p.P28T|AGBL1_ENST00000421325.2_Missense_Mutation_p.P297T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	297					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTTGACCGACCTGAAGAGGA	0.433000													10	10					0.000442599	0.000473335	1	1	0
CCDC87	55231	broad.mit.edu	37	11	66359867	66359867	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:66359867C>T	ENST00000333861.3	-	1	687	c.620G>A	c.(619-621)tGc>tAc	p.C207Y		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	207										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGGATAGGGCACAGCTTGAA	0.617000													13	59					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50683519	50683519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:50683519G>T	ENST00000230658.7	+	3	999	c.414G>T	c.(412-414)agG>agT	p.R138S	ISL1_ENST00000511384.1_Missense_Mutation_p.R138S|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	138					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGGTGGAGAGGGCCAGTCTAG	0.672000													20	57					2.27731e-05	2.53766e-05	1	1	0
CTSA	5476	broad.mit.edu	37	20	44521859	44521859	+	Splice_Site	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:44521859G>T	ENST00000372484.3	+	7	937	c.654_splice	c.e7-1	p.G219_splice	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372459.2_Splice_Site_p.G201_splice|CTSA_ENST00000354880.5_Splice_Site_p.G202_splice|CTSA_ENST00000191018.5_Splice_Site_p.G201_splice	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	201					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTTTCACAGGGGCTGGCTGT	0.557000													6	47					5.9392e-07	6.97132e-07	1	1	0
CLDN9	9080	broad.mit.edu	37	16	3063831	3063831	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:3063831C>T	ENST00000445369.2	+	1	1375	c.468C>T	c.(466-468)ctC>ctT	p.L156L		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	156					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CTGAGGCCCTCAAGCGGGAGC	0.697000													10	45					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484774	484774	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:484774C>T	ENST00000264938.3	-	5	802	c.793G>A	c.(793-795)Ggg>Agg	p.G265R	SLC9A3_ENST00000514375.1_Missense_Mutation_p.G265R	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	265						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGACCACCCCCACCAGCGTG	0.642000													9	99					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1156592	1156592	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:1156592C>T	ENST00000356191.2	+	9	603	c.603C>T	c.(601-603)taC>taT	p.Y201Y						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		ACACCAAATACGCCAACAAGA	0.607000													29	73					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116497459	116497459	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:116497459C>A	ENST00000410059.1	+	9	1322	c.842C>A	c.(841-843)cCg>cAg	p.P281Q	DPP10_ENST00000393147.2_Missense_Mutation_p.P285Q|DPP10_ENST00000310323.8_Missense_Mutation_p.P274Q|DPP10_ENST00000409163.1_Missense_Mutation_p.P231Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	281					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAGCAGTATCCGTATCCTAAG	0.428000													17	145					3.09479e-21	4.87318e-21	1	1	0
DCAF12	25853	broad.mit.edu	37	9	34107400	34107400	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:34107400G>T	ENST00000361264.4	-	3	838	c.497C>A	c.(496-498)gCc>gAc	p.A166D	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	166						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCGATAGATGGCAAGACTGTT	0.512000													14	119					4.96729e-08	6.10993e-08	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247587423	247587423	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:247587423G>T	ENST00000366497.2	+	4	1458	c.678G>T	c.(676-678)ggG>ggT	p.G226G	NLRP3_ENST00000366496.2_Silent_p.G226G|NLRP3_ENST00000336119.3_Silent_p.G226G|NLRP3_ENST00000391827.2_Silent_p.G226G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.G226G|NLRP3_ENST00000348069.2_Silent_p.G226G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	226	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTTCCAGGGGGCGGCAGGGA	0.542000													10	51					0.010729	0.0110151	1	1	0
CYP2F1	1572	broad.mit.edu	37	19	41622228	41622228	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:41622228G>A	ENST00000331105.2	+	2	207	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	45					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACCTGCTGCTGCTTTGCTCCC	0.572000													88	264					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114251482	114251482	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:114251482C>A	ENST00000357077.4	+	27	3034	c.2981C>A	c.(2980-2982)cCa>cAa	p.P994Q	ANK2_ENST00000394537.3_Missense_Mutation_p.P994Q|ANK2_ENST00000506722.1_Missense_Mutation_p.P985Q|ANK2_ENST00000509550.1_Missense_Mutation_p.P203Q|ANK2_ENST00000264366.6_Missense_Mutation_p.P994Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	994	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCATTATTCCACCTCGGAAA	0.507000													7	53					0.00198382	0.00207829	1	1	0
PDE6B	5158	broad.mit.edu	37	4	619760	619760	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:619760G>A	ENST00000255622.6	+	1	388	c.345G>A	c.(343-345)ccG>ccA	p.P115P	PDE6B_ENST00000496514.1_Silent_p.P115P	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	115	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCGTGCAGCCGGACAGCGTCC	0.667000													7	17					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129030	83129030	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:83129030G>A	ENST00000329312.4	+	4	1351	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	438					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGTCTGTCAAGAATGATGAAG	0.353000													6	25					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55307479	55307479	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:55307479G>A	ENST00000371273.3	+	10	1205	c.1190G>A	c.(1189-1191)aGg>aAg	p.R397K	C1orf177_ENST00000358193.3_3'UTR	NM_001110533.1	NP_001104003.1	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	397										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						taaagggaaaggatcacacca	0.463000													4	17					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133468	91133468	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:91133468C>G	ENST00000373094.1	+	2	3074	c.2229C>G	c.(2227-2229)gaC>gaG	p.D743E	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743E|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743E|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743E|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743E|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743E|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D743E|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743E|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	743	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.D743E(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGTTACAGACCTTGGTTTAC	0.413000													36	147					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56469747	56469747	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:56469747C>A	ENST00000370754.5	-	39	9579	c.9580G>T	c.(9580-9582)Gag>Tag	p.E3194*	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Nonsense_Mutation_p.E3016*|DST_ENST00000446842.2_Nonsense_Mutation_p.E2690*|DST_ENST00000361203.3_Nonsense_Mutation_p.E3016*|DST_ENST00000370769.4_Nonsense_Mutation_p.E3016*|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3016					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGGACTTCTCTTTTGTATTA	0.368000													17	95					1.5739e-10	2.07517e-10	1	1	0
SLC6A4	6532	broad.mit.edu	37	17	28530214	28530214	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:28530214G>A	ENST00000401766.2	-	13	2306	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	SLC6A4_ENST00000261707.3_Silent_p.I598I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	598					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTGGAGTGATGATCAACCGAT	0.368000													7	177					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29782951	29782951	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:29782951A>G	ENST00000269202.6	+	6	393	c.346A>G	c.(346-348)Ata>Gta	p.I116V	MEP1B_ENST00000581447.1_Missense_Mutation_p.I116V	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	116	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AACAAACTATATATCAGTGTT	0.408000													18	35					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588697	247588697	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:247588697C>A	ENST00000366497.2	+	4	2732	c.1952C>A	c.(1951-1953)cCc>cAc	p.P651H	NLRP3_ENST00000366496.2_Missense_Mutation_p.P651H|NLRP3_ENST00000336119.3_Missense_Mutation_p.P651H|NLRP3_ENST00000391827.2_Missense_Mutation_p.P651H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P651H|NLRP3_ENST00000348069.2_Missense_Mutation_p.P651H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	651					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACTATTTCCCCAAGATTGAG	0.498000													13	66					5.50884e-06	6.29348e-06	1	1	0
PHC1	1911	broad.mit.edu	37	12	9087776	9087776	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:9087776G>A	ENST00000433083.2	+	10	2320	c.2175G>A	c.(2173-2175)ccG>ccA	p.P725P	PHC1_ENST00000544916.1_Silent_p.P770P|PHC1_ENST00000536844.1_Silent_p.P376P|PHC1_ENST00000543824.1_Silent_p.P770P			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	770					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CTGGCCTTCCGACAGGGCTGA	0.512000													4	17					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237548	140237548	+	Missense_Mutation	SNP	A	A	G	rs630162	by1000genomes	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:140237548A>G	ENST00000307360.5	+	1	1915	c.1915A>G	c.(1915-1917)Act>Gct	p.T639A	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGATGAGACTGACTCGCC	0.647000													4	44					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564119	176564119	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:176564119T>C	ENST00000367662.3	+	3	2543	c.1379T>C	c.(1378-1380)tTt>tCt	p.F460S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.F460S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	460	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACAGCGAGCTTTGAGCCTGTG	0.537000													26	135					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245826	46245826	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:46245826C>G	ENST00000334344.6	+	15	4092	c.3920C>G	c.(3919-3921)tCa>tGa	p.S1307*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.S917*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1158*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1307					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTACCTCCTTCAAACTCAGGG	0.423000			"""N, S, F"""		hepatocellular carcinoma								15	62					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99852500	99852500	+	Splice_Site	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:99852500G>C	ENST00000373031.4	+	5	640		c.e5-1		TNMD_ENST00000485971.1_Splice_Site	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin							integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						TCTTCTTTCAGAATGAAGAAA	0.358000													17	73					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52926589	52926589	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:52926589A>G	ENST00000295213.4	+	2	466	c.92A>G	c.(91-93)aAc>aGc	p.N31S	SPATA18_ENST00000419395.2_Missense_Mutation_p.N31S|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	31					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTGCAGACAAACACGTGTGAT	0.507000													15	59					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14799108	14799108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:14799108G>T	ENST00000358984.4	+	21	2218	c.2038G>T	c.(2038-2040)Gat>Tat	p.D680Y	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	731										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAGTCTCCTGATAATGATGG	0.289000													20	65					1.96292e-10	2.56178e-10	1	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417548	14417548	+	RNA	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:14417548T>A	ENST00000507941.1	+	0	160																											GAATTTTTACTGACAAAAAAA	0.308000													5	48					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65038635	65038635	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:65038635C>G	ENST00000394156.3	-	3	591	c.138G>C	c.(136-138)caG>caC	p.Q46H	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.Q46H|CDH11_ENST00000566827.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	46					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTGTAGCACCTGCCCCTCCT	0.657000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			4	42					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847582	130847582	+	Silent	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:130847582G>C	ENST00000245255.3	+	18	2360	c.2088G>C	c.(2086-2088)cgG>cgC	p.R696R		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	696	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGCCCAGCCGGATCATCGTGT	0.498000													19	89					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131113905	131113905	+	Splice_Site	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:131113905G>T	ENST00000352689.6	+	9	1000		c.e9+1		MKLN1_ENST00000421797.2_Splice_Site	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs						signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TGAAAAAGAGGCAAGTTCTCA	0.433000													16	59					2.31682e-05	2.57797e-05	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12734879	12734879	+	Missense_Mutation	SNP	G	G	C	rs139554874		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:12734879G>C	ENST00000380682.1	+	15	2807	c.2301G>C	c.(2299-2301)caG>caC	p.Q767H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	767					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGATGAACCAGCCGGCCATCC	0.562000													49	141					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113751	56113751	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:56113751C>A	ENST00000279783.2	+	1	331	c.237C>A	c.(235-237)taC>taA	p.Y79*		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATCTTGGTTACTCCACTGTCA	0.408000										HNSCC(65;0.19)			53	232					1.67886e-27	2.80417e-27	1	1	0
SLC26A7	115111	broad.mit.edu	37	8	92401566	92401566	+	Splice_Site	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:92401566A>G	ENST00000276609.3	+	16	1915	c.1675_splice	c.e16-1	p.E559_splice	SLC26A7_ENST00000523719.1_Splice_Site_p.E559_splice|SLC26A7_ENST00000309536.2_Splice_Site_p.E559_splice|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	559	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCTCCTACAGAAGAAGCTTCA	0.438000													26	308					0	0	1	0	0
FN3K	64122	broad.mit.edu	37	17	80708596	80708596	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:80708596C>T	ENST00000300784.7	+	6	957	c.895C>T	c.(895-897)Cct>Tct	p.P299S		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	299					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTACAGGAGCCCTTCCTTGGG	0.652000													40	145					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151276019	151276019	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:151276019G>A	ENST00000368875.2	-	7	2134	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	PI4KB_ENST00000271657.5_Silent_p.I518I|PI4KB_ENST00000368873.1_Silent_p.I506I|PI4KB_ENST00000368872.1_Silent_p.I491I|PI4KB_ENST00000529142.1_Silent_p.I174I|PI4KB_ENST00000368874.4_Silent_p.I491I	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	506					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCCATACCGGATGTCCCCTG	0.498000													38	387					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477442	25477442	+	RNA	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:25477442C>A	ENST00000453082.2	+	0	1664					NR_003343.1																						GAAGCTCAAGCCTTTCCTGGC	0.612000													23	119					3.62473e-10	4.70665e-10	1	1	0
HOXA7	3204	broad.mit.edu	37	7	27196050	27196050	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:27196050C>T	ENST00000242159.3	-	1	248	c.115G>A	c.(115-117)Ggc>Agc	p.G39S		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	39					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.G39C(1)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GCCCCGTAGCCGCTTCTCTGT	0.582000													29	112					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43675472	43675472	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:43675472C>T	ENST00000372492.4	+	11	2138	c.1814C>T	c.(1813-1815)tCt>tTt	p.S605F	WDR65_ENST00000528956.1_Missense_Mutation_p.S605F	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	605										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCTCGCATTCTGGACGCATG	0.547000													19	69					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158990277	158990277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:158990277C>A	ENST00000295809.7	+	6	1374	c.1119C>A	c.(1117-1119)aaC>aaA	p.N373K	IFI16_ENST00000368132.3_Missense_Mutation_p.N373K|IFI16_ENST00000340979.6_Missense_Mutation_p.N373K|IFI16_ENST00000430894.2_Missense_Mutation_p.N321K|IFI16_ENST00000359709.3_Missense_Mutation_p.N317K|IFI16_ENST00000448393.2_Missense_Mutation_p.N373K|IFI16_ENST00000368131.4_Missense_Mutation_p.N373K			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	373	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GAAAAAAGAACCAGATGTCAA	0.353000													18	125					5.03518e-11	6.7194e-11	1	1	0
FBXO42	54455	broad.mit.edu	37	1	16577832	16577832	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:16577832C>A	ENST00000375592.3	-	10	1703	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	496										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGATCCTAATCTCAGATCTTT	0.468000													14	94					4.3838e-07	5.20112e-07	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113562944	113562944	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:113562944G>C	ENST00000297405.5	-	27	4764	c.4520C>G	c.(4519-4521)aCg>aGg	p.T1507R	CSMD3_ENST00000352409.3_Missense_Mutation_p.T1507R|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1467R|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1403R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1507	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAAAATCCGTGTCAAACTG	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	79					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123376974	123376974	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:123376974G>T	ENST00000275162.4	+	5	2034	c.699G>T	c.(697-699)ctG>ctT	p.L233L	CLVS2_ENST00000368438.1_Silent_p.L87L	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	233	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GTAACAACCTGAACAGTCTAC	0.453000													20	87					3.99206e-14	5.70294e-14	1	1	0
SECISBP2L	9728	broad.mit.edu	37	15	49303936	49303936	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:49303936G>T	ENST00000559471.1	-	13	2119	c.1856C>A	c.(1855-1857)tCc>tAc	p.S619Y	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S574Y	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	619										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ACCTTCCTGGGAAACAATCTC	0.428000													18	59					4.96729e-08	6.10993e-08	1	1	0
QPCT	25797	broad.mit.edu	37	2	37580071	37580071	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:37580071C>T	ENST00000338415.3	+	2	418	c.260C>T	c.(259-261)gCt>gTt	p.A87V	QPCT_ENST00000537448.1_Intron	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	87					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGCTATGCTGCTCGTCAGGTG	0.468000													5	57					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56313042	56313042	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:56313042C>A	ENST00000443188.1	-	7	2777	c.2067G>T	c.(2065-2067)cgG>cgT	p.R689R	NLRP11_ENST00000360133.3_Silent_p.R635R|NLRP11_ENST00000589093.1_Silent_p.R689R|NLRP11_ENST00000592953.1_Silent_p.R590R|NLRP11_ENST00000589824.2_Silent_p.R635R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	689							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATGTCAGGCTCCGATTACGAG	0.448000													28	67					9.39395e-14	1.33703e-13	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113326250	113326250	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:113326250G>T	ENST00000297405.5	-	49	7825	c.7581C>A	c.(7579-7581)tcC>tcA	p.S2527S	CSMD3_ENST00000352409.3_Silent_p.S2457S|CSMD3_ENST00000343508.3_Silent_p.S2487S|CSMD3_ENST00000455883.2_Silent_p.S2423S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCACTGAGGGAAATAAGCA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	130					0.0215528	0.0218651	1	1	0
STAMBP	10617	broad.mit.edu	37	2	74074646	74074646	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:74074646C>T	ENST00000394070.2	+	5	1011	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	STAMBP_ENST00000339566.3_Missense_Mutation_p.R170W|STAMBP_ENST00000536064.1_Missense_Mutation_p.R170W|STAMBP_ENST00000409707.1_Missense_Mutation_p.R170W|STAMBP_ENST00000394073.1_Missense_Mutation_p.R170W	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	170	Glu-rich.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GGAGATGATCCGGAACCAGGA	0.522000													18	71					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668715	53668715	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:53668715T>C	ENST00000600412.1	-	2	948	c.833A>G	c.(832-834)gAa>gGa	p.E278G	ZNF665_ENST00000396424.3_Missense_Mutation_p.E343G			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GTAAGGTTTTTCTCCAGTGTG	0.433000													43	126					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764764	184764764	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:184764764G>A	ENST00000367511.3	-	14	2327	c.2134C>T	c.(2134-2136)Ctc>Ttc	p.L712F	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	712	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AACTTTCTGAGCGCCTTCAAA	0.542000													25	73					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55036790	55036790	+	Silent	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:55036790G>C	ENST00000417545.2	+	5	737	c.651G>C	c.(649-651)ctG>ctC	p.L217L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	201						intracellular	zinc ion binding	p.L201L(1)|p.L217L(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCACTGGACTGAGGGACAGGC	0.498000													8	76					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	87					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814426	123814426	+	Silent	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:123814426T>A	ENST00000321252.2	-	1	154	c.120A>T	c.(118-120)acA>acT	p.T40T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAGCTTGCCTGTGGCTGTTA	0.498000													45	155					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995207	140995207	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:140995207C>A	ENST00000285879.4	+	4	2303	c.2017C>A	c.(2017-2019)Caa>Aaa	p.Q673K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	673							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCACTCCCAATCTCCTCT	0.577000										HNSCC(15;0.026)			68	171					1.48873e-21	2.35384e-21	1	1	0
ZMAT3	64393	broad.mit.edu	37	3	178745568	178745568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:178745568G>C	ENST00000311417.2	-	4	1164	c.423C>G	c.(421-423)atC>atG	p.I141M	ZMAT3_ENST00000432729.1_Missense_Mutation_p.I141M	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	141					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CCGTGGCCAGGATCACTCGGC	0.478000													10	59					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25319260	25319260	+	RNA	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:25319260T>C	ENST00000549804.2	+	0	977				SNORD116-10_ENST00000363791.1_RNA																							AGACTATGTGTAGGTTGATGA	0.373000													6	25					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996243	57996243	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:57996243G>T	ENST00000316770.2	-	1	147	c.105C>A	c.(103-105)ttC>ttA	p.F35L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGAGGAGGAGGAAGAGAAGGA	0.527000													40	109					6.19805e-25	1.01543e-24	1	1	0
CXXC1	30827	broad.mit.edu	37	18	47810332	47810332	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:47810332G>T	ENST00000285106.6	-	10	2059	c.1345C>A	c.(1345-1347)Cgc>Agc	p.R449S	CXXC1_ENST00000589940.1_Missense_Mutation_p.R449S|CXXC1_ENST00000412036.2_Missense_Mutation_p.R453S	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	449					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGGAATCGGCGTTCCATTTCC	0.612000													37	131					9.80977e-26	1.614e-25	1	1	0
OR6B1	135946	broad.mit.edu	37	7	143701435	143701435	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:143701435G>T	ENST00000408922.2	+	1	414	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TGTGCTTCTGGCCGCCATGGC	0.502000													37	130					2.47316e-13	3.48779e-13	1	1	0
VHLL	391104	broad.mit.edu	37	1	156268882	156268882	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:156268882C>A	ENST00000339922.3	-	1	546	c.99G>T	c.(97-99)gaG>gaT	p.E33D		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	33					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCATCTCCTCCTCGGCGCCCA	0.632000													47	100					1.00776e-21	1.59665e-21	1	1	0
PDLIM5	10611	broad.mit.edu	37	4	95508230	95508230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:95508230G>T	ENST00000380180.3	+	9	853	c.702G>T	c.(700-702)caG>caT	p.Q234H	PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000538141.1_Missense_Mutation_p.Q214H|PDLIM5_ENST00000317968.4_Intron|PDLIM5_ENST00000318007.5_Missense_Mutation_p.Q214H|PDLIM5_ENST00000508216.1_Missense_Mutation_p.Q234H|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000450793.1_Missense_Mutation_p.Q234H	NM_001011515.2	NP_001011515.1	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	0					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TTAACGTACAGTGATTTATGA	0.393000													5	27					0.000602214	0.000639593	1	1	0
GRIP1	23426	broad.mit.edu	37	12	66765662	66765662	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:66765662G>T	ENST00000359742.4	-	23	3064	c.2824C>A	c.(2824-2826)Cca>Aca	p.P942T	GRIP1_ENST00000286445.7_Missense_Mutation_p.P927T|GRIP1_ENST00000398016.3_Missense_Mutation_p.P890T			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	942					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGAGGTGTTGGAGCCTCATGA	0.532000													5	87					0.014758	0.0150512	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8528747	8528747	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:8528747C>T	ENST00000381196.4	-	12	928	c.385G>A	c.(385-387)Gac>Aac	p.D129N	PTPRD_ENST00000397611.3_Missense_Mutation_p.D129N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D129N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D129N|PTPRD_ENST00000463477.1_Missense_Mutation_p.D129N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D129N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D129N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D129N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D129N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D129N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D129N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D129N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	129	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D129Y(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGCCCATGTCAATGGTAGGG	0.468000										TSP Lung(15;0.13)			19	96					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79635320	79635320	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:79635320C>A	ENST00000376708.1	+	1	750	c.750C>A	c.(748-750)ggC>ggA	p.G250G		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	250					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						ACGGGCTGGGCTCGgccgccg	0.746000													6	8					5.9392e-07	6.97132e-07	1	1	0
REG1B	5968	broad.mit.edu	37	2	79312392	79312392	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:79312392C>A	ENST00000305089.3	-	6	531	c.451G>T	c.(451-453)Gat>Tat	p.D151Y		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	151	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CAAGATTCATCCTTCCATTTC	0.403000													8	56					5.18039e-06	5.93587e-06	1	1	0
NEGR1	257194	broad.mit.edu	37	1	72163783	72163783	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:72163783C>A	ENST00000357731.4	-	4	814	c.575G>T	c.(574-576)gGa>gTa	p.G192V	NEGR1_ENST00000306821.3_Missense_Mutation_p.G64V|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Intron	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	192	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCTTGTAATTCCATAAATGTC	0.373000													4	66					0.150653	0.151046	1	1	0
PRM1	5619	broad.mit.edu	37	16	11375028	11375028	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:11375028C>T	ENST00000312511.3	-	1	179	c.68G>A	c.(67-69)cGc>cAc	p.R23H	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	23					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		large_intestine(2)|skin(2)	4						CCTTCGTCTGCGACTTCTTTG	0.627000													7	146					0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	74973721	74973721	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:74973721C>G	ENST00000428202.2	-	11	1651	c.1462G>C	c.(1462-1464)Gcc>Ccc	p.A488P	POC5_ENST00000380475.2_Intron|POC5_ENST00000514838.2_Missense_Mutation_p.A460P|POC5_ENST00000446329.2_Missense_Mutation_p.A463P|POC5_ENST00000510798.1_Intron	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	488					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTGATCCGGGCTGTAATAGTT	0.388000													9	49					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381811	108381811	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:108381811C>A	ENST00000265843.4	-	6	4533	c.4423G>T	c.(4423-4425)Ggc>Tgc	p.G1475C	EXPH5_ENST00000428840.1_Missense_Mutation_p.G1399C|EXPH5_ENST00000525344.1_Missense_Mutation_p.G1468C|EXPH5_ENST00000443411.1_Missense_Mutation_p.G1287C	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1475					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCACTGGAGCCATCACCTACA	0.473000													12	59					4.36969e-10	5.64541e-10	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140167386	140167386	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:140167386G>C	ENST00000458420.3	+	6	1003	c.813G>C	c.(811-813)caG>caC	p.Q271H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	271	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTGAGTACCAGCCTGGCTCCG	0.507000										HNSCC(16;0.037)			6	122					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24936020	24936020	+	Splice_Site	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:24936020A>T	ENST00000533227.1	+	7	488		c.e7-1		LUZP2_ENST00000336930.6_Splice_Site	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTGCCTTACAGTCAAAAAAA	0.348000													16	38					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188223968	188223968	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:188223968G>A	ENST00000409998.1	-	12	1594	c.813C>T	c.(811-813)gcC>gcT	p.A271A	CALCRL_ENST00000410068.1_Silent_p.A271A|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Silent_p.A271A|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	271						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTCTAGCAATGGCATGTATAC	0.239000													5	22					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3075767	3075767	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:3075767C>T	ENST00000326266.8	+	2	394	c.98C>T	c.(97-99)tCa>tTa	p.S33L	THOC6_ENST00000575576.1_Missense_Mutation_p.S9L|THOC6_ENST00000253952.9_Missense_Mutation_p.S33L|THOC6_ENST00000574549.1_Missense_Mutation_p.S9L	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	33					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CAGAGCGTCTCACCATGTGGG	0.577000													17	76					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842969	123842969	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:123842969G>A	ENST00000369005.1	+	4	1294	c.954G>A	c.(952-954)ggG>ggA	p.G318G	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G318G|TACC2_ENST00000453444.2_Silent_p.G318G|TACC2_ENST00000334433.3_Silent_p.G318G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G318G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	318						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCAATTCAGGGGCTGCCCCAG	0.597000													28	80					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20785162	20785162	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr22:20785162C>T	ENST00000405555.3	-	5	958	c.888G>A	c.(886-888)acG>acA	p.T296T	SCARF2_ENST00000266214.5_Silent_p.T296T	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	296					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCTCGGCCACCGTGCACGGCT	0.716000													5	11					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224749422	224749422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:224749422C>A	ENST00000233055.4	-	9	978	c.876G>T	c.(874-876)caG>caT	p.Q292H		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	292						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AGAAAAATGGCTGCTCACATT	0.468000													36	312					1.90571e-15	2.77916e-15	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113326827	113326827	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:113326827T>G	ENST00000297405.5	-	48	7624	c.7380A>C	c.(7378-7380)gaA>gaC	p.E2460D	CSMD3_ENST00000352409.3_Missense_Mutation_p.E2390D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2420D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E2356D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2460	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTAGCCGTAATTCATTGGCAG	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	103					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445372	87445372	+	Silent	SNP	G	G	A	rs138168317	byFrequency	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:87445372G>A	ENST00000268616.4	-	12	2761	c.2544C>T	c.(2542-2544)ccC>ccT	p.P848P		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	848					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGTGCACGACGGGGAAGGTGG	0.657000													10	23					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892534	219892534	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:219892534C>A	ENST00000341552.5	-	13	2132	c.2049G>T	c.(2047-2049)aaG>aaT	p.K683N	CCDC108_ENST00000453220.1_Missense_Mutation_p.K683N|CCDC108_ENST00000441968.1_Missense_Mutation_p.K683N|CCDC108_ENST00000410037.1_Missense_Mutation_p.K618N|CCDC108_ENST00000409865.3_Missense_Mutation_p.K672N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	683						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCATGATCTTGCCCTTGG	0.622000													8	62					0.0477658	0.0481409	1	1	0
MYH7	4625	broad.mit.edu	37	14	23897833	23897833	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:23897833A>T	ENST00000355349.3	-	15	1616	c.1454T>A	c.(1453-1455)cTg>cAg	p.L485Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	485	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAACTGCTGCAGCTTCTCGTT	0.532000													15	114					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655028	31655028	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:31655028T>A	ENST00000340345.4	-	1	248	c.223A>T	c.(223-225)Agc>Tgc	p.S75C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	75						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGCTCACAGCTGGGAGATTTG	0.532000													25	107					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25222052	25222052	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:25222052G>T	ENST00000444203.2	+	5	1347	c.308G>T	c.(307-309)gGa>gTa	p.G103V	SNRPN_ENST00000554227.2_Missense_Mutation_p.G103V|SNRPN_ENST00000577565.1_Missense_Mutation_p.G99V|SNRPN_ENST00000390687.4_Missense_Mutation_p.G99V|SNRPN_ENST00000346403.6_Missense_Mutation_p.G99V|SNRPN_ENST00000400097.1_Missense_Mutation_p.G99V|SNRPN_ENST00000400098.1_Missense_Mutation_p.G99V|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400100.1_Missense_Mutation_p.G99V			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCACTTGCTGGAGCTGCTGGA	0.512000									Prader-Willi syndrome				24	130					6.12954e-19	9.4584e-19	1	1	0
MAGEB1	4112	broad.mit.edu	37	X	30269188	30269188	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:30269188G>T	ENST00000378981.3	+	4	899	c.578G>T	c.(577-579)tGg>tTg	p.W193L	MAGEB1_ENST00000397550.1_Missense_Mutation_p.W193L|MAGEB1_ENST00000397548.2_Missense_Mutation_p.W193L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	193	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGCAATGATTGGGACTTTCCC	0.488000													3	35					0.004672	0.00484178	1	1	0
OR4C16	219428	broad.mit.edu	37	11	55339951	55339951	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:55339951G>T	ENST00000314634.3	+	1	348	c.348G>T	c.(346-348)acG>acT	p.T116T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCATCCTCACGGCTGTTGACC	0.507000													66	255					1.02487e-32	1.74205e-32	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151962159	151962159	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:151962159C>A	ENST00000355193.2	-	8	1366	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	KMT2C_ENST00000262189.6_Missense_Mutation_p.W383L					lysine (K)-specific methyltransferase 2C									p.W383L(2)									AGGACATTGCCAACCTGCACG	0.438000													55	671					5.80444e-35	9.88809e-35	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17232375	17232375	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:17232375G>T	ENST00000261381.6	-	8	1685	c.1601C>A	c.(1600-1602)aCg>aAg	p.T534K	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	534					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCAGGACCGTATGGAAGAA	0.587000													8	53					3.09899e-07	3.69956e-07	1	1	0
WDPCP	51057	broad.mit.edu	37	2	63609160	63609160	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:63609160T>C	ENST00000409120.1	-	5	4479	c.929A>G	c.(928-930)tAt>tGt	p.Y310C	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.Y502C|WDPCP_ENST00000398544.3_Missense_Mutation_p.Y343C|WDPCP_ENST00000272321.7_Missense_Mutation_p.Y502C|WDPCP_ENST00000409199.1_Missense_Mutation_p.Y310C			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	502					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TATTGCCTCATAGATCTCATC	0.468000													9	55					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168798	142168798	+	RNA	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:142168798G>T	ENST00000454561.2	-	0	247																											GGACTCACCTGCTCCCAGGAG	0.632000													12	41					7.93312e-07	9.21343e-07	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11577566	11577566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:11577566C>A	ENST00000294484.6	+	7	1934	c.1796C>A	c.(1795-1797)tCc>tAc	p.S599Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S599Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	599	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCATCGTGTCCTGTTGCTGG	0.597000													16	102					2.32078e-09	2.94885e-09	1	1	0
TBX22	50945	broad.mit.edu	37	X	79282807	79282807	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:79282807C>A	ENST00000442340.1	+	7	981	c.491C>A	c.(490-492)aCt>aAt	p.T164N	TBX22_ENST00000373291.1_Missense_Mutation_p.T164N|TBX22_ENST00000373296.3_Missense_Mutation_p.T284N|TBX22_ENST00000373294.5_Missense_Mutation_p.T284N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	284					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTAGAGATACTGGAAGAAAC	0.308000													23	61					1.66031e-10	2.17791e-10	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32595770	32595770	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:32595770C>A	ENST00000286827.3	-	9	2418	c.1947G>T	c.(1945-1947)gtG>gtT	p.V649V	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.V649V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	649					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCCCATGGCCACTTTCGTTG	0.478000													41	132					6.45866e-13	9.00936e-13	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599626	136599626	+	Silent	SNP	C	C	A	rs139735050		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:136599626C>A	ENST00000531224.1	-	4	645	c.393G>T	c.(391-393)cgG>cgT	p.R131R	BCLAF1_ENST00000530767.1_Silent_p.R131R|BCLAF1_ENST00000527536.1_Silent_p.R131R|BCLAF1_ENST00000353331.4_Silent_p.R129R|BCLAF1_ENST00000527759.1_Silent_p.R129R|BCLAF1_ENST00000392348.2_Silent_p.R129R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	131					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCTATATGACCGGCGAGATC	0.453000													42	339					1.67305e-13	2.37246e-13	1	1	0
BRINP1	1620	broad.mit.edu	37	9	121976308	121976308	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:121976308C>G	ENST00000265922.3	-	6	1272	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	DBC1_ENST00000373964.2_Missense_Mutation_p.E271Q	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		271					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGAAACTCCTCGGCACATTGG	0.552000													31	107					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21557766	21557766	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:21557766C>A	ENST00000382592.4	-	5	2484	c.2079G>T	c.(2077-2079)ctG>ctT	p.L693L	LATS2_ENST00000542899.1_Silent_p.L693L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	693	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TCATGGCGTACAGGGCGTGAG	0.542000													26	122					2.48779e-11	3.33148e-11	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128339541	128339541	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:128339541C>T	ENST00000389524.4	+	11	1209	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	MYO7B_ENST00000428314.1_Silent_p.L386L|MYO7B_ENST00000409816.2_Silent_p.L386L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	386	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CACCAGGTCCCTGAACATTGC	0.602000													17	125					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100999382	100999382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:100999382C>A	ENST00000325455.5	-	1	1873	c.420G>T	c.(418-420)tgG>tgT	p.W140C	PGR_ENST00000263463.5_Missense_Mutation_p.W140C|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	140	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAAACAGGCACCAAGAGCTGG	0.672000													3	14					1.23904e-05	1.39483e-05	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103594	53103594	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:53103594T>A	ENST00000408890.4	+	1	246	c.230T>A	c.(229-231)cTc>cAc	p.L77H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	77										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGCACCCACCTCATCGAGGTG	0.711000													3	30					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483305	56483305	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:56483305C>T	ENST00000370765.6	-	23	5634	c.5527G>A	c.(5527-5529)Gaa>Aaa	p.E1843K	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1258					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCAGGTTTTCAACCTCACGC	0.413000													37	195					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736748	24736748	+	RNA	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:24736748C>T	ENST00000483544.1	-	0	354					NR_029451.2																						AAAAAATCCACCAGGAGGGAG	0.572000													15	42					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124857084	124857084	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:124857084T>A	ENST00000356219.3	-	21	2446	c.2291A>T	c.(2290-2292)cAg>cTg	p.Q764L	NCOR2_ENST00000397355.1_Missense_Mutation_p.Q747L|NCOR2_ENST00000405201.1_Missense_Mutation_p.Q764L|NCOR2_ENST00000404121.2_Missense_Mutation_p.Q317L|NCOR2_ENST00000404621.1_Missense_Mutation_p.Q746L|NCOR2_ENST00000429285.2_Missense_Mutation_p.Q746L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	764					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCCCATTCTGCCCTGTGTC	0.687000													12	46					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9364848	9364848	+	Splice_Site	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:9364848G>T	ENST00000378501.2	+	11	869	c.853_splice	c.e11-1	p.G285_splice	PLCB4_ENST00000378493.1_Splice_Site_p.G285_splice|PLCB4_ENST00000414679.2_Splice_Site_p.G285_splice|PLCB4_ENST00000334005.3_Splice_Site_p.G285_splice|PLCB4_ENST00000278655.4_Splice_Site_p.G285_splice|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Splice_Site_p.G285_splice	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	285					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTCCCCTAGGCCTTATATCA	0.388000													10	108					7.48243e-07	8.7295e-07	1	1	0
POTEF	728378	broad.mit.edu	37	2	130831864	130831864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:130831864C>A	ENST00000357462.5	-	15	3274	c.3181G>T	c.(3181-3183)Gag>Tag	p.E1061*	POTEF_ENST00000409914.2_Nonsense_Mutation_p.E1061*			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	1061	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCATCATACTCCTGCTTGCTG	0.537000													19	134					1.56452e-12	2.15122e-12	1	1	0
TF	7018	broad.mit.edu	37	3	133473504	133473504	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:133473504C>A	ENST00000402696.3	+	4	976	c.491C>A	c.(490-492)cCt>cAt	p.P164H	TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.P37H	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	164	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCACGTAAACCTCTTGAGAAA	0.567000													28	190					1.30897e-18	2.01179e-18	1	1	0
DERL2	51009	broad.mit.edu	37	17	5383839	5383839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:5383839C>A	ENST00000158771.4	-	5	446	c.391G>T	c.(391-393)Gtg>Ttg	p.V131L	DERL2_ENST00000572834.1_Intron|DERL2_ENST00000570848.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	131					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CGGCTCCACACATAGACGAGC	0.463000													48	129					9.22156e-22	1.46404e-21	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13602460	13602460	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:13602460C>T	ENST00000040738.5	-	10	6199	c.6064G>A	c.(6064-6066)Gct>Act	p.A2022T		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2022							DNA binding										GATGTGTGAGCAACTTCACAT	0.448000													3	43					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116497458	116497458	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:116497458C>A	ENST00000410059.1	+	9	1321	c.841C>A	c.(841-843)Ccg>Acg	p.P281T	DPP10_ENST00000393147.2_Missense_Mutation_p.P285T|DPP10_ENST00000310323.8_Missense_Mutation_p.P274T|DPP10_ENST00000409163.1_Missense_Mutation_p.P231T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	281					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAGCAGTATCCGTATCCTAA	0.423000													15	147					8.16277e-20	1.26976e-19	1	1	0
CCDC181	57821	broad.mit.edu	37	1	169391213	169391213	+	Silent	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:169391213A>C	ENST00000545005.1	-	4	963	c.456T>G	c.(454-456)ctT>ctG	p.L152L	CCDC181_ENST00000367805.3_Silent_p.L152L|CCDC181_ENST00000367806.3_Silent_p.L152L|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		CCTTGAACTTAAGTTTTCGCT	0.348000													32	155					0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77830262	77830262	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:77830262C>A	ENST00000376156.3	-	5	515	c.512G>T	c.(511-513)gGa>gTa	p.G171V	ALG8_ENST00000299626.5_Missense_Mutation_p.G171V|ALG8_ENST00000532552.2_Intron	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	171					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TAGCATTAATCCAAATAAAAA	0.323000													20	68					1.37522e-17	2.09688e-17	1	1	0
ZNF385C	201181	broad.mit.edu	37	17	40180097	40180097	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:40180097G>T	ENST00000436535.3	-	6	1138	c.1138C>A	c.(1138-1140)Cag>Aag	p.Q380K	ZNF385C_ENST00000461831.1_5'UTR					zinc finger protein 385C											lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	3		all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126)				GAATTGACCTGGAGCTGACAG	0.667000													37	58					1.49673e-21	2.36165e-21	1	1	0
LYPD3	27076	broad.mit.edu	37	19	43965824	43965824	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:43965824C>A	ENST00000244333.3	-	5	808	c.720G>T	c.(718-720)cgG>cgT	p.R240R		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	240						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GAGGGGGCAGCCGGACAAGGG	0.617000													38	89					1.47244e-24	2.40718e-24	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185800793	185800793	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:185800793G>T	ENST00000302277.6	+	4	1264	c.670G>T	c.(670-672)Gtg>Ttg	p.V224L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	224						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAAAGCGTCCGTGAAGCTAGA	0.428000													31	128					1.16021e-09	1.48646e-09	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553567	140553567	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:140553567C>A	ENST00000231137.3	+	1	1325	c.1151C>A	c.(1150-1152)tCc>tAc	p.S384Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		384	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGTGTGCTCCATCCAGGAC	0.468000													21	56					2.27731e-05	2.53766e-05	1	1	0
NEGR1	257194	broad.mit.edu	37	1	72076727	72076727	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:72076727C>A	ENST00000357731.4	-	5	1009	c.770G>T	c.(769-771)tGg>tTg	p.W257L	NEGR1_ENST00000306821.3_Missense_Mutation_p.W129L|NEGR1_ENST00000434200.1_Missense_Mutation_p.W211L	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	257	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCCTTTGTACCATTCAAAGGC	0.458000													11	146					6.40141e-05	7.04155e-05	1	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859100	67859100	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:67859100G>A	ENST00000388833.3	+	7	954	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.A247T|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.A178T	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	193					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGAGCGAGATGCCTGTAAGAT	0.567000													15	61					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28935744	28935744	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:28935744G>C	ENST00000358201.4	-	2	842	c.254C>G	c.(253-255)tCg>tGg	p.S85W	RABEP2_ENST00000544477.1_Intron|RABEP2_ENST00000357573.6_Missense_Mutation_p.S85W|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	85					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GGCCTGCAGCGAGGCCACCTC	0.612000													14	78					0	0	1	0	0
RNASE12	493901	broad.mit.edu	37	14	21058855	21058855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:21058855C>A	ENST00000556526.1	-	1	127	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|AL163195.3_ENST00000555283.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	10						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		AACAGAAGCACCAAGAAAATT	0.423000													12	301					0.00010058	0.000109698	1	1	0
WDR52	55779	broad.mit.edu	37	3	113114629	113114629	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:113114629C>G	ENST00000393845.2	-	15	1924	c.1858G>C	c.(1858-1860)Gtg>Ctg	p.V620L	WDR52_ENST00000295868.2_Missense_Mutation_p.V620L|WDR52_ENST00000475568.1_5'UTR	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	620										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AACTGACACACAGGTCCAGGA	0.353000													10	107					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50197159	50197159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:50197159C>A	ENST00000002829.3	+	2	588	c.104C>A	c.(103-105)tCa>tAa	p.S35*	SEMA3F_ENST00000413852.1_5'UTR|SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.S35*	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	35	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GTCCGGCTCTCATTCAAAGGT	0.592000													5	67					1.06961e-07	1.30317e-07	1	1	0
ESM1	11082	broad.mit.edu	37	5	54281170	54281170	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:54281170G>T	ENST00000381405.4	-	1	321	c.176C>A	c.(175-177)gCa>gAa	p.A59E	ESM1_ENST00000381403.4_Missense_Mutation_p.A59E|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	59	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TCCCCGCCCTGCAGCGCACAC	0.602000													19	85					3.51602e-12	4.80876e-12	1	1	0
ADAM2	2515	broad.mit.edu	37	8	39634647	39634647	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:39634647C>T	ENST00000265708.4	-	11	1028	c.925G>A	c.(925-927)Gtt>Att	p.V309I	ADAM2_ENST00000379853.2_Missense_Mutation_p.V183I|ADAM2_ENST00000521880.1_Missense_Mutation_p.V309I|ADAM2_ENST00000347580.4_Missense_Mutation_p.V290I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	309	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCTAAAATAACTGCAAGTGAT	0.383000													29	71					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355430	31355430	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:31355430C>A	ENST00000542188.1	-	7	1220	c.907G>T	c.(907-909)Gtc>Ttc	p.V303F	TRPM1_ENST00000397795.2_Missense_Mutation_p.V264F|TRPM1_ENST00000256552.6_Missense_Mutation_p.V286F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	264					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TATTCCAAGACGATGGACACC	0.592000													15	131					1.05317e-09	1.35157e-09	1	1	0
ANK3	288	broad.mit.edu	37	10	61834508	61834508	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:61834508C>A	ENST00000280772.1	-	37	6322	c.6131G>T	c.(6130-6132)aGt>aTt	p.S2044I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2044					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTCAGTGAACTACTCCCAAT	0.388000													28	160					5.45727e-16	8.0346e-16	1	1	0
ODF2L	57489	broad.mit.edu	37	1	86820356	86820356	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:86820356C>T	ENST00000359242.3	-	16	1905	c.1624G>A	c.(1624-1626)Gca>Aca	p.A542T	ODF2L_ENST00000394731.1_Missense_Mutation_p.A382T|ODF2L_ENST00000317336.7_Missense_Mutation_p.A542T|ODF2L_ENST00000370567.1_Missense_Mutation_p.A513T|ODF2L_ENST00000370566.3_Missense_Mutation_p.A460T|ODF2L_ENST00000294678.2_Missense_Mutation_p.A526T	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	542						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTATTTTCTGCGTCCATCTGT	0.313000													14	104					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924761	188924761	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:188924761G>T	ENST00000326866.4	+	4	1208	c.800G>T	c.(799-801)cGc>cTc	p.R267L	ZFP42_ENST00000509524.1_Missense_Mutation_p.R267L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	267					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R267H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACGCACGTGCGCATCCACACG	0.498000													8	78					3.09899e-07	3.69956e-07	1	1	0
MUSK	4593	broad.mit.edu	37	9	113510005	113510005	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:113510005T>C	ENST00000416899.2	+	7	964	c.838T>C	c.(838-840)Tac>Cac	p.Y280H	MUSK_ENST00000374448.4_Missense_Mutation_p.Y280H|MUSK_ENST00000189978.5_Missense_Mutation_p.Y280H			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	280	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCCAGGACTCTACACATGCAT	0.488000													49	145					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21205926	21205926	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:21205926C>G	ENST00000602326.1	-	18	2945	c.2362G>C	c.(2362-2364)Gtt>Ctt	p.V788L	EIF4G3_ENST00000374935.3_Missense_Mutation_p.V502L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V782L|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V272L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V788L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.V782L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V386L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	782	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTGTGTCAACAGTAAGTCCT	0.428000													77	316					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714179	60714179	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:60714179T>A	ENST00000227880.3	-	2	906	c.673A>T	c.(673-675)Agc>Tgc	p.S225C		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	225					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGCAGGAAGCTGATGTTCTGC	0.587000													28	168					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17575701	17575701	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:17575701G>A	ENST00000375460.3	+	1	109	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	23					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCTGGCGTGGAGACCCTCG	0.612000													8	75					0	0	1	0	0
IRX3	79191	broad.mit.edu	37	16	54319093	54319093	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:54319093C>A	ENST00000329734.3	-	2	1412	c.700G>T	c.(700-702)Ggg>Tgg	p.G234W		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	234	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						tcctcccccccgagctcctcc	0.657000													6	11					3.59834e-05	3.97521e-05	1	1	0
NPEPPS	9520	broad.mit.edu	37	17	45669345	45669345	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:45669345G>T	ENST00000322157.4	+	11	1521	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	NPEPPS_ENST00000530173.1_Missense_Mutation_p.E424D|NPEPPS_ENST00000544660.1_Missense_Mutation_p.E348D|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	428					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ATCCATCTGAGGTTGATGAGA	0.398000													7	47					0.000157383	0.000170924	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								5	69					0	0	1	0	0
PLSCR1	5359	broad.mit.edu	37	3	146239808	146239808	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:146239808C>T	ENST00000342435.4	-	6	798	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.E123K|PLSCR1_ENST00000448787.2_Missense_Mutation_p.E49K	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	130					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TTCTTAATTTCATATTTGTTA	0.328000													7	90					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	23847559	23847559	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:23847559C>A	ENST00000303531.7	+	1	215	c.63C>A	c.(61-63)gcC>gcA	p.A21A	PRKCB_ENST00000498058.1_Silent_p.A21A|PRKCB_ENST00000321728.7_Silent_p.A21A	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	21					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGCGCTTCGCCCGCAAAGGCG	0.697000													9	54					1.12685e-05	1.27787e-05	1	1	0
CYP21A1P	1590	broad.mit.edu	37	6	31975463	31975463	+	RNA	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:31975463T>C	ENST00000342991.6	+	0	1386					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GCAGCGACTGTAGGAGGAGCT	0.657000													3	8					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45132908	45132908	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:45132908C>A	ENST00000457685.2	-	5	1395	c.72G>T	c.(70-72)ttG>ttT	p.L24F	ZNF334_ENST00000347606.4_Missense_Mutation_p.L62F|ZNF334_ENST00000593880.1_Missense_Mutation_p.L85F			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTCCTTGCTCCAATTTGAAAA	0.408000													4	59					1.23904e-05	1.39483e-05	1	1	0
PADI3	51702	broad.mit.edu	37	1	17601209	17601209	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:17601209T>A	ENST00000375460.3	+	11	1275	c.1235T>A	c.(1234-1236)gTc>gAc	p.V412D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	412					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AACCTGGAGGTCAGCCCTCCA	0.587000											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	43					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972832	61972832	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:61972832C>T	ENST00000329882.8	-	4	527	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	CSH1_ENST00000316193.8_Splice_Site|CSH1_ENST00000453363.3_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCCACCCTCACCCCCATCAGC	0.567000									Russell-Silver syndrome				31	142					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46965720	46965720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:46965720G>T	ENST00000374323.3	-	4	1563	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Missense_Mutation_p.L273M|SYT15_ENST00000374325.3_Missense_Mutation_p.L273M|SYT15_ENST00000374321.4_Missense_Mutation_p.L273M			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	273	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CATACCTCCAGGCTCTCGGCC	0.627000													13	81					6.31663e-08	7.74491e-08	1	1	0
APH1A	51107	broad.mit.edu	37	1	150238981	150238981	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:150238981A>C	ENST00000360244.4	-	6	1177	c.685T>G	c.(685-687)Ttc>Gtc	p.F229V	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.F159V|APH1A_ENST00000369109.3_Missense_Mutation_p.F229V	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	229					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGTGATGAAGGCCCAGAGC	0.562000													8	54					0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80190603	80190603	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:80190603G>A	ENST00000450142.2	-	17	2686	c.2420C>T	c.(2419-2421)aCt>aTt	p.T807I	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T807I|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T720I|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.T751I|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T807I	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	807	Interaction with ROCK2.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GTAAGCAGAAGTTATGCCTAC	0.363000													22	62					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945683	43945683	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:43945683G>A	ENST00000389420.3	-	1	41	c.42C>T	c.(40-42)ctC>ctT	p.L14L	ADAMTS20_ENST00000553158.1_Silent_p.L14L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	14						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAAGAGCGAGAGATGGTAGA	0.662000													19	81					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69944923	69944923	+	Splice_Site	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:69944923G>T	ENST00000370598.1	+	19	3428		c.e19-1		BAI3_ENST00000238918.8_Splice_Site	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)				TTAATTCACAGATCATGGAAT	0.353000													46	149					1.41504e-22	2.27945e-22	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100533213	100533213	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:100533213T>A	ENST00000358544.2	+	30	4906	c.4795T>A	c.(4795-4797)Tct>Act	p.S1599T	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S1574T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1599					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTGGCAGATCTGTCCTTAG	0.398000													17	150					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090976	91090976	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:91090976A>T	ENST00000373094.1	+	1	1318	c.473A>T	c.(472-474)tAt>tTt	p.Y158F	PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y158F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y158F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y158F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y158F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y158F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.Y158F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y158F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y158F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	158	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AACTCTAAATATACTCTCCCA	0.353000													25	85					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15614364	15614364	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:15614364T>A	ENST00000378076.3	-	25	2836	c.2483A>T	c.(2482-2484)cAc>cTc	p.H828L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	828					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCAATATTGTGCAGCTGTAA	0.408000													26	108					0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57858149	57858149	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:57858149G>T	ENST00000556492.1	+	2	628	c.474G>T	c.(472-474)gcG>gcT	p.A158A	NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	158						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AGGCAGCGGCGGCGAGCGATC	0.677000													14	18					1.5842e-08	1.97704e-08	1	1	0
ZNF79	7633	broad.mit.edu	37	9	130206958	130206958	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:130206958C>G	ENST00000342483.5	+	5	1385	c.979C>G	c.(979-981)Cac>Gac	p.H327D	ZNF79_ENST00000543471.1_Missense_Mutation_p.H303D	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TCAGAGGACTCACACCGGGGA	0.562000													26	121					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55943320	55943320	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:55943320G>T	ENST00000373965.2	-	14	1889	c.1495C>A	c.(1495-1497)Cca>Aca	p.P499T	PCDH15_ENST00000395445.1_Missense_Mutation_p.P499T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P492T|PCDH15_ENST00000395446.1_Missense_Mutation_p.P492T|PCDH15_ENST00000395433.1_Missense_Mutation_p.P470T|PCDH15_ENST00000395438.1_Missense_Mutation_p.P492T|PCDH15_ENST00000373955.1_Missense_Mutation_p.P492T|PCDH15_ENST00000395430.1_Missense_Mutation_p.P492T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P455T|PCDH15_ENST00000409834.1_Missense_Mutation_p.P103T|PCDH15_ENST00000373957.3_Missense_Mutation_p.P470T|PCDH15_ENST00000361849.3_Missense_Mutation_p.P492T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P492T|PCDH15_ENST00000414778.1_Missense_Mutation_p.P497T|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	492	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACGATGACTGGCTCACTTTCT	0.383000										HNSCC(58;0.16)			18	186					3.99206e-14	5.70294e-14	1	1	0
USH2A	7399	broad.mit.edu	37	1	216380639	216380639	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:216380639T>A	ENST00000366943.2	-	16	3678	c.3292A>T	c.(3292-3294)Aca>Tca	p.T1098S	USH2A_ENST00000366942.3_Missense_Mutation_p.T1098S|USH2A_ENST00000307340.3_Missense_Mutation_p.T1098S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1098	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCTCTGTTGTGTAGATTTCA	0.378000										HNSCC(13;0.011)			23	127					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220170599	220170599	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:220170599C>A	ENST00000366923.3	-	18	2536	c.2267G>T	c.(2266-2268)aGa>aTa	p.R756I	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	756	Glutamyl-tRNA synthetase.|WHEP-TRS 1.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AACAGCCACTCTATTGTAAAG	0.398000													48	132					1.07234e-20	1.68168e-20	1	1	0
ALKBH3	221120	broad.mit.edu	37	11	43940668	43940668	+	Silent	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:43940668G>C	ENST00000302708.4	+	9	1161	c.750G>C	c.(748-750)gcG>gcC	p.A250A	ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA|ALKBH3-AS1_ENST00000534287.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	250	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TGGAAGGAGCGACACAAGCTG	0.438000								Direct reversal of damage					35	106					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736692	24736692	+	RNA	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:24736692G>A	ENST00000483544.1	-	0	410					NR_029451.2																						GGCAGAAGCGGAAGCACAAGA	0.597000													26	75					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30450488	30450488	+	Silent	SNP	C	C	T	rs141277279		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:30450488C>T	ENST00000278979.3	-	6	388	c.312G>A	c.(310-312)acG>acA	p.T104T	DUSP15_ENST00000339738.5_Silent_p.T107T|DUSP15_ENST00000398083.1_Silent_p.T4T|DUSP15_ENST00000398084.2_Silent_p.T4T|DUSP15_ENST00000486996.1_Silent_p.T4T|DUSP15_ENST00000375966.4_Silent_p.T104T			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	104	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCTAGCCCCGTCACAGTCA	0.577000													5	92					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22202157	22202157	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:22202157G>A	ENST00000374695.3	-	25	3346	c.3267C>T	c.(3265-3267)atC>atT	p.I1089I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1089	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGATGCTCGGATCAGGAGGG	0.667000													24	77					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998613	144998613	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:144998613C>A	ENST00000322810.4	-	31	6064	c.5895G>T	c.(5893-5895)cgG>cgT	p.R1965R	PLEC_ENST00000345136.3_Silent_p.R1828R|PLEC_ENST00000436759.2_Silent_p.R1855R|PLEC_ENST00000527096.1_Silent_p.R1851R|PLEC_ENST00000398774.2_Silent_p.R1796R|PLEC_ENST00000357649.2_Silent_p.R1832R|PLEC_ENST00000354958.2_Silent_p.R1806R|PLEC_ENST00000356346.3_Silent_p.R1814R|PLEC_ENST00000354589.3_Silent_p.R1828R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1965	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGCCTCGGCCCGCTGCCGCG	0.751000													7	5					8.12818e-05	8.91553e-05	1	1	0
OR52A1	23538	broad.mit.edu	37	11	5173180	5173180	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:5173180G>C	ENST00000380367.1	-	2	837	c.420C>G	c.(418-420)caC>caG	p.H140Q	OR52A1_ENST00000328942.1_Missense_Mutation_p.H140Q			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	140					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACAAGCTGGTGGGTGAAGA	0.478000													14	59					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524540	51524540	+	Missense_Mutation	SNP	T	T	C	rs139742511	byFrequency	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:51524540T>C	ENST00000371117.3	-	61	10659	c.10384A>G	c.(10384-10386)Atc>Gtc	p.I3462V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3462					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGGGTAAGATAGAATAGAAA	0.408000													29	162					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56101305	56101305	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:56101305G>A	ENST00000257880.7	-	1	381	c.162C>T	c.(160-162)ttC>ttT	p.F54F	ITGA7_ENST00000555728.1_Silent_p.F54F|ITGA7_ENST00000394230.2_Silent_p.F54F|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000553804.1_Silent_p.F54F|ITGA7_ENST00000347027.6_Silent_p.F54F|ITGA7_ENST00000394229.2_Silent_p.F54F|ITGA7_ENST00000257879.6_Silent_p.F54F			Q13683	ITA7_HUMAN	integrin, alpha 7	54					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGCCACAGAGAAGCCGAAGA	0.667000													10	34					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901688	149901688	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:149901688G>A	ENST00000439741.2	-	16	2018	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.R518C	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	590	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGAGCCAACGAGAAGAGACT	0.592000													12	145					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15542344	15542344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:15542344G>A	ENST00000281513.5	-	26	3044	c.3019C>T	c.(3019-3021)Caa>Taa	p.Q1007*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.Q887*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1007										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGACAGAGTTGATCATTTCGT	0.373000													41	146					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89293148	89293148	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:89293148G>C	ENST00000433976.2	+	6	700	c.368G>C	c.(367-369)gGa>gCa	p.G123A	ZNF778_ENST00000306502.6_Missense_Mutation_p.G81A	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACGCAGTGTGGAGAAGCTTTC	0.473000													7	44					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834798	74834798	+	Splice_Site	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:74834798G>A	ENST00000370895.1	+	16	1752	c.1717_splice	c.e16+1	p.G573_splice	TNNI3K_ENST00000326637.3_Splice_Site_p.G472_splice|TNNI3K_ENST00000370891.2_Splice_Site_p.G573_splice|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.G573_splice|FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.G573_splice			Q59H18	TNI3K_HUMAN		472	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TATTGGCTCAGGTAACCtaaa	0.328000													11	69					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490888	157490888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:157490888C>A	ENST00000361835.3	-	11	2591	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	FCRL5_ENST00000356953.4_Nonsense_Mutation_p.E812*|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	812	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGAGTGCTCTGCAGTCAGA	0.552000													22	141					2.44723e-14	3.52218e-14	1	1	0
OR5M10	390167	broad.mit.edu	37	11	56344766	56344766	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:56344766C>A	ENST00000526812.2	-	1	497	c.432G>T	c.(430-432)ctG>ctT	p.L144L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L144L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCACAGTGACCAGAGAGATGC	0.438000													38	129					3.62531e-18	5.56073e-18	1	1	0
FSCN3	29999	broad.mit.edu	37	7	127240340	127240340	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:127240340A>T	ENST00000265825.5	+	6	1603	c.1384A>T	c.(1384-1386)Agc>Tgc	p.S462C	FSCN3_ENST00000420086.2_Missense_Mutation_p.E326V	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	462						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCTTCAGGGGAGCAACTTACT	0.527000													19	67					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109649	145109649	+	RNA	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:145109649C>T	ENST00000453618.1	+	0	638							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AAGAAGGTGCCCACTGTGTCC	0.423000													46	1334					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766226	77766226	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:77766226G>A	ENST00000521891.2	+	10	7517	c.7069G>A	c.(7069-7071)Gat>Aat	p.D2357N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2312N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2331N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2312N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2312	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGATGCCACTGATCAAGTGGT	0.488000										HNSCC(33;0.089)			182	300					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48435699	48435699	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:48435699C>T	ENST00000017003.2	+	10	2122	c.2073C>T	c.(2071-2073)atC>atT	p.I691I	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	691					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TGGTCTGGATCGACCCAACCT	0.627000													11	44					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6854071	6854071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:6854071G>T	ENST00000304076.2	+	25	2474	c.2380G>T	c.(2380-2382)Gga>Tga	p.G794*	VAV1_ENST00000602142.1_Nonsense_Mutation_p.G816*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.G719*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.G761*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.G784*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	816	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G816R(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TAACAAGAAGGGACAGCAAGG	0.602000													34	56					8.73648e-17	1.3037e-16	1	1	0
ICAM1	3383	broad.mit.edu	37	19	10385516	10385516	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:10385516G>C	ENST00000264832.3	+	2	468	c.143G>C	c.(142-144)tGc>tCc	p.C48S	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	48	Ig-like C2-type 1.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CTGGTGACATGCAGCACCTCC	0.572000													35	82					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509923	24509923	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:24509923G>T	ENST00000264463.4	-	7	1515	c.1008C>A	c.(1006-1008)ctC>ctA	p.L336L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	336	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTCATAGTCGAGTGGCTGTA	0.373000										HNSCC(23;0.051)			15	85					6.31663e-08	7.74491e-08	1	1	0
OR6S1	341799	broad.mit.edu	37	14	21109509	21109509	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:21109509G>C	ENST00000320704.3	-	1	341	c.342C>G	c.(340-342)ttC>ttG	p.F114L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCAACAGTAAGAACTCGGAGG	0.507000													148	85					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59276808	59276808	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:59276808T>G	ENST00000320743.3	-	12	1609	c.1323A>C	c.(1321-1323)ttA>ttC	p.L441F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L381F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	441						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGATGTATTTAAATGCCTGA	0.378000			T	ROS1	NSCLC								15	59					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204199638	204199638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:204199638C>A	ENST00000272203.3	-	18	2802	c.2486G>T	c.(2485-2487)cGg>cTg	p.R829L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R849L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	829										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGGTGCCGCCGCATTCGGTC	0.647000													3	10					0.00024832	0.000268548	1	1	0
GPR182	11318	broad.mit.edu	37	12	57389150	57389150	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:57389150C>T	ENST00000300098.1	+	2	376	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	53						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GAGCACCAAGCGCGTGGTCCT	0.592000													5	135					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046693	175046693	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:175046693A>G	ENST00000239462.4	+	2	252	c.139A>G	c.(139-141)Aag>Gag	p.K47E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	47					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCACACCTACAAGATCGATGT	0.632000													16	63					0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964675	37964675	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr22:37964675G>C	ENST00000249014.4	+	3	1444	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	342					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGAGCGGGTGGAGGTGCTGCC	0.716000													6	9					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47256408	47256408	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:47256408A>C	ENST00000319190.5	+	15	2055	c.1687A>C	c.(1687-1689)Aag>Cag	p.K563Q	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.K563Q|TTC7A_ENST00000409245.1_Missense_Mutation_p.K529Q|TTC7A_ENST00000263737.6_Missense_Mutation_p.K209Q	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	563							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAGGTACGCAAGGATGATGC	0.607000													11	68					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126242	58126242	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:58126242A>G	ENST00000357377.3	-	1	300	c.301T>C	c.(301-303)Ttt>Ctt	p.F101L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACTGCACAAAAGAACATCTGA	0.473000													22	80					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55619930	55619930	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:55619930C>T	ENST00000294383.6	-	15	1673	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	USP24_ENST00000407756.1_Silent_p.L414L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	558					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAAGGTGAGCCAGTTCCCAGA	0.433000													8	25					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47604241	47604241	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:47604241C>T	ENST00000383738.2	-	5	3648	c.1550G>A	c.(1549-1551)aGt>aAt	p.S517N	CSPG5_ENST00000264723.4_Missense_Mutation_p.S490N|CSPG5_ENST00000456150.1_Missense_Mutation_p.S352N	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	517					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTGGGGAGCACTAGGATCATC	0.473000													11	107					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926808	1926808	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:1926808G>T	ENST00000399161.2	-	10	1480	c.733C>A	c.(733-735)Cgg>Agg	p.R245R	MYT1L_ENST00000428368.2_Silent_p.R245R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	245					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R245R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCACTTTTCCGACCCAGGTTT	0.468000													24	138					5.35356e-11	7.11958e-11	1	1	0
SORCS2	57537	broad.mit.edu	37	4	7705100	7705100	+	Splice_Site	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:7705100T>A	ENST00000507866.2	+	13	1869		c.e13+2		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GATCCTCAAGTAATGGCGTCT	0.587000													7	18					0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294920	109294920	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:109294920C>A	ENST00000327419.6	+	2	964	c.561C>A	c.(559-561)ggC>ggA	p.G187G	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	187						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACACAGCTGGCGAGGGCCTTT	0.612000													17	48					9.7654e-05	0.000106809	1	1	0
PITPNM2	57605	broad.mit.edu	37	12	123480074	123480074	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:123480074C>A	ENST00000280562.5	-	13	2121	c.1916G>T	c.(1915-1917)cGg>cTg	p.R639L	PITPNM2_ENST00000542749.1_Missense_Mutation_p.R639L|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R639L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R360L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	639					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCTCAGGTGCCGACTGCTCTC	0.657000													6	47					0.0293803	0.0296888	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058012	152058012	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:152058012C>A	ENST00000368806.1	-	3	2210	c.2146G>T	c.(2146-2148)Gcc>Tcc	p.A716S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	716							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTATTCTGGGCCTCTGTTGCT	0.448000													82	212					4.59617e-45	7.98882e-45	1	1	0
MS4A14	84689	broad.mit.edu	37	11	60165336	60165336	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:60165336C>T	ENST00000300187.6	+	2	427	c.150C>T	c.(148-150)atC>atT	p.I50I	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Silent_p.I50I|MS4A14_ENST00000395005.2_Silent_p.I50I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	50						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTACCCAGATCCTGCTTGCTC	0.493000													21	77					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247385	149247385	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:149247385G>T	ENST00000407073.1	+	12	4482	c.3485G>T	c.(3484-3486)aGa>aTa	p.R1162I	MBD5_ENST00000404807.1_Missense_Mutation_p.R1395I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1162						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGGAATTCAAGAGGGGCTCGG	0.463000													19	81					4.35082e-09	5.48303e-09	1	1	0
SERPINI1	5274	broad.mit.edu	37	3	167525119	167525119	+	Silent	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:167525119A>T	ENST00000295777.5	+	6	1400	c.969A>T	c.(967-969)acA>acT	p.T323T	SERPINI1_ENST00000446050.2_Silent_p.T323T|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	323					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAAATTTGACAGGCCTCTCTG	0.303000													18	92					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128408856	128408856	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:128408856C>A	ENST00000544369.1	+	4	1242	c.631C>A	c.(631-633)Cag>Aag	p.Q211K	LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.Q211K|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.Q211K|GPR17_ENST00000486700.1_3'UTR	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	211						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.Q211E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGTCTGCCTGCAGCTGTACCG	0.647000													21	123					1.15919e-05	1.31261e-05	1	1	0
SSPO	23145	broad.mit.edu	37	7	149486421	149486421	+	RNA	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:149486421C>T	ENST00000378016.2	+	0	4397							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCTGCCTGCCGCCGGCCCTG	0.672000													7	23					0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73933372	73933372	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:73933372A>G	ENST00000328257.8	+	4	627	c.304A>G	c.(304-306)Aga>Gga	p.R102G	PPME1_ENST00000398427.4_Missense_Mutation_p.R102G			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	102					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GATTATTAGTAGAGTTCAGTG	0.358000													15	81					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086643	56086643	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:56086643G>T	ENST00000312711.1	+	1	861	c.861G>T	c.(859-861)ttG>ttT	p.L287F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGAATCCCTTGATCTATAGTT	0.353000													15	62					7.93312e-07	9.21343e-07	1	1	0
TMSB15A	11013	broad.mit.edu	37	X	101770103	101770103	+	Translation_Start_Site	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:101770103G>C	ENST00000289373.4	-	0	124					NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a						actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			large_intestine(1)|lung(1)	2						TTGACTAGAAGATAGCCTGAA	0.353000													25	87					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14345841	14345841	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:14345841G>T	ENST00000571589.1	+	14	2698	c.2526G>T	c.(2524-2526)ccG>ccT	p.P842P	MKL2_ENST00000318282.5_Silent_p.P792P|MKL2_ENST00000574045.1_Silent_p.P792P|MKL2_ENST00000341243.5_Silent_p.P831P	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	831					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAAATGCTCCGCTTCCATCCC	0.493000													21	138					1.96292e-10	2.56178e-10	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3216750	3216750	+	Silent	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:3216750A>G	ENST00000602557.1	-	22	3786	c.3231T>C	c.(3229-3231)cgT>cgC	p.R1077R	CSMD1_ENST00000537824.1_Silent_p.R1076R|CSMD1_ENST00000539096.1_Silent_p.R1076R|CSMD1_ENST00000602723.1_Silent_p.R1077R|CSMD1_ENST00000400186.3_Silent_p.R1077R|CSMD1_ENST00000542608.1_Silent_p.R1076R|CSMD1_ENST00000520002.1_Silent_p.R1077R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1077	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACCTTCTAAACGATATCCCA	0.547000													13	97					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902977	22902977	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:22902977C>T	ENST00000166244.3	+	3	499	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	EPHA8_ENST00000374644.4_Missense_Mutation_p.L143F|EPHA8_ENST00000538803.1_Missense_Mutation_p.L143F	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	143						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGCCAGTTCCTCAAAATCGA	0.612000													10	47					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873765	91873765	+	Silent	SNP	C	C	T	rs146706969		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:91873765C>T	ENST00000373094.1	+	7	4715	c.3870C>T	c.(3868-3870)tgC>tgT	p.C1290C	PCDH11X_ENST00000361655.2_Silent_p.C1272C|PCDH11X_ENST00000373088.1_Silent_p.C1253C|PCDH11X_ENST00000298274.8_Silent_p.C1253C|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000373097.1_Silent_p.C1280C|PCDH11X_ENST00000406881.1_Silent_p.C1282C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1290					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGGGCTATGCTCTGTTGATC	0.473000													92	308					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71317643	71317643	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:71317643C>A	ENST00000338099.5	-	3	2517	c.2181G>T	c.(2179-2181)atG>atT	p.M727I	FTSJD1_ENST00000434935.2_Missense_Mutation_p.M727I			Q8IYT2	FTSJ1_HUMAN		727						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAGTACCTCCATTGGCACAA	0.423000													10	55					3.86212e-05	4.2605e-05	1	1	0
FOLH1B	219595	broad.mit.edu	37	11	89402668	89402668	+	RNA	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:89402668C>A	ENST00000532352.1	+	0	905							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AACTTTTCTACACAGTTAAGA	0.363000													20	89					1.33834e-09	1.70899e-09	1	1	0
SEL1L2	80343	broad.mit.edu	37	20	13867053	13867053	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:13867053C>A	ENST00000284951.5	-	9	855	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.V261L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	261						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACTTTTTCCACTGGAACACCT	0.363000													7	65					0.00198382	0.00207829	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119029342	119029342	+	Missense_Mutation	SNP	G	G	A	rs145359289	byFrequency	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:119029342G>A	ENST00000307417.3	+	11	1607	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	ABCG4_ENST00000531739.1_Missense_Mutation_p.D415N|ABCG4_ENST00000449422.2_Missense_Mutation_p.D415N	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	415	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCATATTGGCGACGATGCCAG	0.572000													13	238					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10302141	10302141	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:10302141G>T	ENST00000403437.2	-	29	4019	c.3925C>A	c.(3925-3927)Caa>Aaa	p.Q1309K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1309					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTAGATGCTTGCTTGCTCCTT	0.363000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	67					2.65835e-16	3.94398e-16	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31339483	31339483	+	Silent	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:31339483C>G	ENST00000544665.3	+	23	2798	c.2727C>G	c.(2725-2727)ccC>ccG	p.P909P	ITGAM_ENST00000287497.8_Silent_p.P908P	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	908					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACAACATGCCCAGAACCAACA	0.537000													8	142					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404546	20404546	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:20404546A>C	ENST00000285600.4	+	1	780	c.721A>C	c.(721-723)Act>Cct	p.T241P		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTCTACATTAACTGCCCACAT	0.418000													14	151					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517594	158517594	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:158517594C>A	ENST00000302617.3	-	1	301	c.302G>T	c.(301-303)gGc>gTc	p.G101V		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGTCATGCAGCCATTGAAGGA	0.448000													36	156					2.47316e-13	3.48779e-13	1	1	0
KCNB1	3745	broad.mit.edu	37	20	47990689	47990689	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:47990689C>T	ENST00000371741.4	-	2	1574	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	470					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			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)			CCCATATTCTCCCCATTTTTC	0.438000													26	166					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23928789	23928789	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:23928789C>A	ENST00000382298.3	-	8	2550	c.1962G>T	c.(1960-1962)gtG>gtT	p.V654V	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.V654V|SACS_ENST00000476776.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	654					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTCAGAAAGCACAAATTCTA	0.537000													28	87					1.75199e-13	2.47983e-13	1	1	0
TACSTD2	4070	broad.mit.edu	37	1	59042390	59042390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:59042390C>A	ENST00000371225.2	-	1	776	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	147			E -> D (in dbSNP:rs1062964).		cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CGCACCAGCTCATCGCAGCGT	0.677000													3	27					0.004672	0.00484178	1	1	0
TXK	7294	broad.mit.edu	37	4	48114412	48114412	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:48114412G>C	ENST00000264316.4	-	4	377	c.292C>G	c.(292-294)Ccc>Gcc	p.P98A	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	98	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AAATTACAGGGTTCTCTGGGC	0.483000													45	160					0	0	1	0	0
TBC1D3	729873	broad.mit.edu	37	17	36352503	36352503	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:36352503C>A	ENST00000537432.1	-	0	345				RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.E428D|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.E273D			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTCATCAACCTCAGATGGAT	0.398000													12	67					4.36969e-10	5.64541e-10	1	1	0
FTO	79068	broad.mit.edu	37	16	53860355	53860355	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:53860355A>T	ENST00000471389.1	+	3	925	c.703A>T	c.(703-705)Aat>Tat	p.N235Y	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	235	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TCATGATGAAAATCTGGTGGA	0.448000													22	86					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048832	143048832	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:143048832C>A	ENST00000343257.2	+	23	2828	c.2741C>A	c.(2740-2742)cCt>cAt	p.P914H		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	914					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GAGGACAGGCCTGGGGCCACT	0.627000													12	77					0.000151284	0.000164765	1	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65349925	65349925	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:65349925T>A	ENST00000284037.5	+	21	3168	c.2779T>A	c.(2779-2781)Ttt>Att	p.F927I	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.F923I|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.F927I|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.F927I|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.F927I|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.F927I|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.F927I|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.F927I|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.F927I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	927					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATTGCAGGTATTTACTGGTTC	0.373000													15	182					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12028610	12028610	+	Splice_Site	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:12028610G>A	ENST00000415385.3	+	9	899		c.e9-1		MAP2K4_ENST00000353533.5_Splice_Site			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTATGTTCCAGCCTGAAAGAA	0.428000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								15	84					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49178269	49178269	+	Splice_Site	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:49178269C>A	ENST00000340334.7	-	16	1946	c.1578_splice	c.e16+1	p.W526_splice	FOLH1_ENST00000343844.4_Splice_Site_p.W233_splice|FOLH1_ENST00000256999.2_Splice_Site_p.W541_splice|FOLH1_ENST00000533034.1_Splice_Site_p.W526_splice|FOLH1_ENST00000356696.3_Splice_Site_p.W541_splice	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	541	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATTCACTTACCCAATTTTTAG	0.333000													47	158					2.5401e-28	4.26116e-28	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152057975	152057975	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:152057975T>C	ENST00000368806.1	-	3	2247	c.2183A>G	c.(2182-2184)aAt>aGt	p.N728S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	728							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGAGGCTGAATTGTCCTCATC	0.453000													85	212					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081372	3081372	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:3081372G>T	ENST00000602557.1	-	29	4921	c.4366C>A	c.(4366-4368)Ctg>Atg	p.L1456M	CSMD1_ENST00000537824.1_Missense_Mutation_p.L1455M|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1455M|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1456M|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1456M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1455M|CSMD1_ENST00000520002.1_Missense_Mutation_p.L1456M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1456	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGCCCGTCAGATTCCCTCCA	0.502000													10	41					0.00621372	0.00640504	1	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140746095	140746095	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:140746095C>T	ENST00000518069.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGGTTGGCGGGTGTGCCC	0.632000													49	155					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124141810	124141810	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:124141810G>T	ENST00000360013.3	+	15	2815	c.2688G>T	c.(2686-2688)caG>caT	p.Q896H	KALRN_ENST00000240874.3_Missense_Mutation_p.Q896H|KALRN_ENST00000460856.1_Missense_Mutation_p.Q896H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	896					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTCACCTCCAGGCTGAAGTCA	0.522000													19	60					2.35188e-11	3.15496e-11	1	1	0
TTR	7276	broad.mit.edu	37	18	29175156	29175156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:29175156G>T	ENST00000237014.3	+	3	451	c.274G>T	c.(274-276)Gaa>Taa	p.E92*		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	92					transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	ATACAAAGTGGAAATAGACAC	0.453000													15	72					2.62699e-14	3.76682e-14	1	1	0
WDR49	151790	broad.mit.edu	37	3	167272542	167272542	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:167272542C>A	ENST00000308378.3	-	6	1001	c.696G>T	c.(694-696)ggG>ggT	p.G232G	WDR49_ENST00000476376.1_Silent_p.G57G|WDR49_ENST00000453925.2_Silent_p.G285G|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	232										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTCCATCTTGCCCAACATTTA	0.353000													38	159					5.04308e-16	7.43902e-16	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25261236	25261236	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:25261236G>A	ENST00000276440.7	+	48	5133	c.5089G>A	c.(5089-5091)Gat>Aat	p.D1697N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1697						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACCGGGATCTGATGGGTAAGG	0.488000													12	62					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815305	82815305	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:82815305G>A	ENST00000265077.3	+	7	1745	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E346K|VCAN_ENST00000342785.4_Missense_Mutation_p.E394K|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	394	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CATTCCAACAGAGTTCCCTCC	0.423000													33	116					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72443027	72443027	+	Missense_Mutation	SNP	G	G	A	rs139477313		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:72443027G>A	ENST00000392627.1	+	4	2447	c.1321G>A	c.(1321-1323)Gcc>Acc	p.A441T	GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A408T|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A81T|GPRC5C_ENST00000481232.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	396						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						ACGGGCCACCGCCAACAGCCA	0.652000													6	104					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28530257	28530257	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:28530257G>T	ENST00000401766.2	-	13	2263	c.1751C>A	c.(1750-1752)tCa>tAa	p.S584*	SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.S584*			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	584					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AATGAAAGATGAGGTTCCTAT	0.398000													11	214					9.31168e-06	1.05908e-05	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163230091	163230091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:163230091G>T	ENST00000332142.5	-	15	3312	c.3213C>A	c.(3211-3213)taC>taA	p.Y1071*		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1071					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTACCATACTGTAGGCTGGGG	0.483000													17	71					4.7546e-09	5.95292e-09	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130411124	130411124	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:130411124G>A	ENST00000370904.1	-	20	3280	c.2370C>T	c.(2368-2370)tgC>tgT	p.C790C	IGSF1_ENST00000370910.1_Silent_p.C790C|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000361420.3_Silent_p.C799C|IGSF1_ENST00000370903.3_Silent_p.C804C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	799	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGGGGTGGAGCAATTGAAAG	0.507000													56	139					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765486	113765486	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:113765486G>A	ENST00000259211.6	+	4	753	c.342G>A	c.(340-342)agG>agA	p.R114R		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	114					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AGAGTGGCAGGAACTCCACCT	0.527000													11	112					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799985	67799985	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:67799985T>A	ENST00000544246.1	-	2	3279	c.2588A>T	c.(2587-2589)aAc>aTc	p.N863I	PCDH9_ENST00000377861.3_Missense_Mutation_p.N863I|PCDH9_ENST00000456367.1_Missense_Mutation_p.N863I|PCDH9_ENST00000377865.2_Missense_Mutation_p.N863I|PCDH9_ENST00000328454.5_Missense_Mutation_p.N863I	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	863					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTTTGCTTGTTCTCCTGGTT	0.458000													34	150					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27760264	27760264	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:27760264T>G	ENST00000295743.4	-	4	1482	c.1279A>C	c.(1279-1281)Acg>Ccg	p.T427P	EOMES_ENST00000449599.1_Missense_Mutation_p.T427P|EOMES_ENST00000537516.1_Missense_Mutation_p.T132P			O95936	EOMES_HUMAN	eomesodermin	427					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ATGAATTGCGTTTCTGAGAAG	0.448000													41	103					0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90491947	90491947	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:90491947G>T	ENST00000404190.1	+	4	435	c.435G>T	c.(433-435)atG>atT	p.M145I		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	145					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TGGATGAGATGGCTAAATATG	0.388000													26	222					1.77063e-15	2.58707e-15	1	1	0
FAM228A	653140	broad.mit.edu	37	2	24398404	24398404	+	Silent	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:24398404A>C	ENST00000295150.3	+	2	141	c.55A>C	c.(55-57)Aga>Cga	p.R19R	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		AGAAAAGTTAAGAGAATGGCC	0.507000													14	58					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638638	32638638	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:32638638C>A	ENST00000286827.3	-	5	1122	c.651G>T	c.(649-651)cgG>cgT	p.R217R	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.R217R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	217					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCGGACTCGCCCGCGTTTCCA	0.562000													32	104					5.60225e-13	7.84315e-13	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4737207	4737207	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:4737207G>A	ENST00000545990.2	-	5	1385	c.861C>T	c.(859-861)acC>acT	p.T287T	AKAP3_ENST00000228850.1_Silent_p.T287T	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	287					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TGTTAGCATAGGTCATGATCC	0.478000													12	49					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:140481411C>A	ENST00000288602.6	-	11	1457	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	140					1.42033e-22	2.28321e-22	1	1	0
PCDHA5	56143	broad.mit.edu	37	5	140202899	140202899	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:140202899C>A	ENST00000529859.1	+	1	1539	c.1539C>A	c.(1537-1539)agC>agA	p.S513R	PCDHA5_ENST00000529619.1_Missense_Mutation_p.S513R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S513R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.706000													40	86					4.92203e-23	7.9957e-23	1	1	0
ATP8B4	79895	broad.mit.edu	37	15	50190289	50190289	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:50190289C>A	ENST00000284509.6	-	22	2590	c.2449G>T	c.(2449-2451)Gcc>Tcc	p.A817S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A817S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	817					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACATCATTGGCTCCATCACCA	0.438000													28	69					1.68575e-08	2.09698e-08	1	1	0
ZNF768	79724	broad.mit.edu	37	16	30536818	30536818	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:30536818G>T	ENST00000380412.5	-	2	818	c.643C>A	c.(643-645)Cct>Act	p.P215T	ZNF768_ENST00000562803.1_Missense_Mutation_p.P184T	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	215					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ATCTCAAAAGGTGGCCCTATG	0.592000													26	131					3.6726e-16	5.42784e-16	1	1	0
ASXL1	171023	broad.mit.edu	37	20	31019451	31019451	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:31019451G>A	ENST00000375687.4	+	10	1372	c.948G>A	c.(946-948)gcG>gcA	p.A316A	ASXL1_ENST00000306058.5_Silent_p.A311A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	316					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTACCCATGCGGCTCAGAGCT	0.532000			"""F, N, Mis"""		"""MDS, CMML"""								5	47					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380507	147380507	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:147380507G>T	ENST00000240986.4	+	2	478	c.425G>T	c.(424-426)cGg>cTg	p.R142L	GJA8_ENST00000369235.1_Missense_Mutation_p.R142L	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	142					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AAGAAGTTCCGGCTGGAGGGG	0.622000													25	171					4.72057e-08	5.82507e-08	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157516823	157516823	+	Missense_Mutation	SNP	T	T	A	rs149292734		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:157516823T>A	ENST00000361835.3	-	3	374	c.217A>T	c.(217-219)Aat>Tat	p.N73Y	FCRL5_ENST00000368188.2_Missense_Mutation_p.N73Y|FCRL5_ENST00000368189.3_Missense_Mutation_p.N73Y|FCRL5_ENST00000356953.4_Missense_Mutation_p.N73Y|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Missense_Mutation_p.N73Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	73	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCAAGGATATTGTCTGGGGTT	0.488000													6	178					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100469273	100469273	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:100469273C>T	ENST00000200457.4	+	7	1468	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	370	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTGTGTCACCGCGGCCTCGA	0.617000													16	56					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328792	88328792	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:88328792G>T	ENST00000325089.6	+	2	1368	c.1149G>T	c.(1147-1149)caG>caT	p.Q383H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Q142H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	383	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCAACCTGCAGATCTCTGATC	0.542000													15	68					4.7546e-09	5.95292e-09	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141473584	141473584	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:141473584C>A	ENST00000389484.3	-	37	6952	c.5981G>T	c.(5980-5982)gGc>gTc	p.G1994V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1994					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGATCCAGGCCTTGGGAAAT	0.343000										TSP Lung(27;0.18)			20	149					5.35267e-07	6.3214e-07	1	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21948316	21948316	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:21948316C>A	ENST00000319481.3	-	3	348	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	OSBPL1A_ENST00000582618.1_5'UTR|OSBPL1A_ENST00000399441.4_Missense_Mutation_p.G48C	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	48					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GGTGTCCAGCCCAAGTTAGAC	0.338000													23	116					3.08376e-08	3.81752e-08	1	1	0
EGFL6	25975	broad.mit.edu	37	X	13607688	13607688	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:13607688G>C	ENST00000361306.1	+	2	345	c.88G>C	c.(88-90)Ggg>Cgg	p.G30R	EGFL6_ENST00000380602.3_Missense_Mutation_p.G30R	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	30					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAGGCATCACGGGTTGTTAGC	0.463000													18	60					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133783563	133783563	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:133783563C>A	ENST00000367895.5	+	8	992	c.528C>A	c.(526-528)gcC>gcA	p.A176A	EYA4_ENST00000525849.1_Silent_p.A153A|EYA4_ENST00000452339.2_Silent_p.A122A|EYA4_ENST00000431403.2_Silent_p.A176A|EYA4_ENST00000355167.3_Silent_p.A176A|EYA4_ENST00000430974.2_Silent_p.A122A|EYA4_ENST00000355286.6_Silent_p.A153A|EYA4_ENST00000531901.1_Silent_p.A176A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	176					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGCAGCCAGCCGTCTACACAG	0.483000													35	82					6.53348e-20	1.02044e-19	1	1	0
VTI1A	143187	broad.mit.edu	37	10	114298043	114298043	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:114298043G>A	ENST00000393077.2	+	5	497	c.381G>A	c.(379-381)agG>agA	p.R127R	VTI1A_ENST00000432306.1_Silent_p.R127R	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	127					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GGCTGGAAAGGTCATCTCGGA	0.443000			T	TCF7L2	colorectal								6	93					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44591055	44591055	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:44591055G>A	ENST00000421176.3	+	5	1640	c.1424G>A	c.(1423-1425)aGa>aAa	p.R475K	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGACATAAGAGACTCCATACT	0.428000													21	66					0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1650725	1650725	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:1650725A>G	ENST00000324015.3	+	7	711	c.634A>G	c.(634-636)Acg>Gcg	p.T212A	SERPINF2_ENST00000450523.2_Missense_Mutation_p.T148A|SERPINF2_ENST00000382061.4_Missense_Mutation_p.T212A	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	212					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GAAGGAGGCCACGGAGGGGAA	0.572000													5	35					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	857586	857586	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:857586C>A	ENST00000301698.1	+	2	583	c.583C>A	c.(583-585)Ctg>Atg	p.L195M		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	195										large_intestine(1)|lung(1)|skin(1)	3						CGGCCGTCTTCTGTCCCTGCA	0.697000													10	22					0.0135373	0.0138798	1	1	0
SULT1C3	442038	broad.mit.edu	37	2	108868909	108868909	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:108868909C>A	ENST00000329106.2	+	2	261	c.261C>A	c.(259-261)caC>caA	p.H87Q	SULT1C3_ENST00000376700.1_Missense_Mutation_p.H87Q	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	87						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TAGATAGACACGCTTTCCTTG	0.373000													8	87					0.00621372	0.00640504	1	1	0
CD300C	10871	broad.mit.edu	37	17	72540836	72540836	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:72540836G>T	ENST00000330793.1	-	2	672	c.312C>A	c.(310-312)gaC>gaA	p.D104E		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	104	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.D104E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGGTGCCTGCGTCCTCCTCTG	0.582000													18	99					2.27731e-05	2.53766e-05	1	1	0
CDH11	1009	broad.mit.edu	37	16	64982652	64982652	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:64982652C>T	ENST00000394156.3	-	13	2386	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N	CDH11_ENST00000268603.4_Intron|CDH11_ENST00000566827.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AATCTCATGTCTTCCCTGGGA	0.413000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			3	19					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641481	142641481	+	Missense_Mutation	SNP	G	G	C	rs61729056		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:142641481G>C	ENST00000355265.2	-	13	1894	c.1420C>G	c.(1420-1422)Caa>Gaa	p.Q474E		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	474					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACCTGCAGTTGAGCAACCTGG	0.537000													24	90					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1546231	1546231	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:1546231G>T	ENST00000337415.3	+	16	2748	c.2657G>T	c.(2656-2658)tGc>tTc	p.C886F	TPO_ENST00000349624.3_Silent_p.L756L|TPO_ENST00000382198.1_Silent_p.L756L|TPO_ENST00000382201.3_Silent_p.L872L|TPO_ENST00000346956.3_Silent_p.L885L|TPO_ENST00000329066.4_Silent_p.L929L|TPO_ENST00000345913.4_Silent_p.L929L|TPO_ENST00000497517.2_3'UTR			P07202	PERT_HUMAN	thyroid peroxidase	0					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCACAGGCTGCCGAGAGCCC	0.493000													5	44					3.59834e-05	3.97521e-05	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165953009	165953009	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:165953009C>T	ENST00000360093.3	-	24	4752	c.4261G>A	c.(4261-4263)Gat>Aat	p.D1421N	SCN3A_ENST00000283254.7_Missense_Mutation_p.D1421N|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1372N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1421						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TACATAATATCCATCCAGCCT	0.294000													6	73					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67940175	67940175	+	Silent	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:67940175A>C	ENST00000252336.6	+	7	2091	c.1719A>C	c.(1717-1719)ccA>ccC	p.P573P	STARD8_ENST00000374597.3_Silent_p.P573P|STARD8_ENST00000374599.3_Silent_p.P653P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	573	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.P573P(4)|p.P653P(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGGGGTGCCACCCCTCATCC	0.577000													6	28					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883427	19883427	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:19883427C>A	ENST00000300571.2	-	2	932	c.741G>T	c.(739-741)tgG>tgT	p.W247C	GPRC5B_ENST00000569847.1_Missense_Mutation_p.W247C|GPRC5B_ENST00000569479.1_Missense_Mutation_p.W247C|GPRC5B_ENST00000537135.1_Missense_Mutation_p.W273C|GPRC5B_ENST00000535671.1_Missense_Mutation_p.W247C	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	247										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCCAGGCCACCCAGATGAGCA	0.622000													6	53					0.00116845	0.00123247	1	1	0
CBWD2	150472	broad.mit.edu	37	2	114202563	114202563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:114202563G>T	ENST00000433343.2	+	5	565	c.253G>T	c.(253-255)Gag>Tag	p.E85*	CBWD2_ENST00000416503.2_Nonsense_Mutation_p.E121*|CBWD2_ENST00000259199.4_Nonsense_Mutation_p.E121*			Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	121							ATP binding|protein binding			endometrium(1)|lung(1)	2						TAGAGCTATTGAGAATTTGAT	0.328000													32	258					4.65686e-17	7.00349e-17	1	1	0
DISP2	85455	broad.mit.edu	37	15	40661361	40661361	+	Silent	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:40661361T>A	ENST00000267889.3	+	8	3135	c.3048T>A	c.(3046-3048)acT>acA	p.T1016T	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1016					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		AGCTCAACACTGCCGAGGCCC	0.587000													16	60					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91514299	91514299	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:91514299G>A	ENST00000416354.1	+	26	4534	c.4462G>A	c.(4462-4464)Gat>Aat	p.D1488N	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.D1458N|KIF20B_ENST00000371728.3_Missense_Mutation_p.D1458N|KIF20B_ENST00000260753.4_Missense_Mutation_p.D1418N			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1458					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATATAATGCTGATAGAAAGAA	0.303000													4	70					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435423	158435423	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:158435423G>T	ENST00000289451.2	+	1	152	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCAGGCTGCAGCAGCTGCTCT	0.512000													56	103					3.10996e-30	5.26301e-30	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113562934	113562934	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:113562934A>T	ENST00000297405.5	-	27	4774	c.4530T>A	c.(4528-4530)taT>taA	p.Y1510*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y1510*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y1470*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y1406*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1510	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTGCTAATATAAAAATCCG	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	77					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74078063	74078063	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:74078063C>A	ENST00000334586.5	+	8	1064	c.981C>A	c.(979-981)agC>agA	p.S327R	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	327					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GGGCCAAGAGCGGCCCCAGCC	0.652000													12	28					6.40141e-05	7.04155e-05	1	1	0
POTEM	641455	broad.mit.edu	37	14	20020026	20020026	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:20020026G>C	ENST00000551509.1	-	1	246	c.195C>G	c.(193-195)tgC>tgG	p.C65W		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	65										endometrium(4)|kidney(1)|lung(4)	9						AGCAGTGGCGGCACCACTTGC	0.597000													19	380					0	0	1	0	0
BIRC5	332	broad.mit.edu	37	17	76210845	76210845	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:76210845G>T	ENST00000301633.4	+	2	327	c.196G>T	c.(196-198)Ggc>Tgc	p.G66C	BIRC5_ENST00000374948.2_Missense_Mutation_p.G66C|BIRC5_ENST00000350051.3_Missense_Mutation_p.G66C|BIRC5_ENST00000590449.1_Missense_Mutation_p.G66C|AC087645.1_ENST00000600484.1_Missense_Mutation_p.P294H|BIRC5_ENST00000592734.1_Missense_Mutation_p.G66C	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	66					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			GGAGCTGGAAGGCTGGGAGCC	0.537000													5	29					0.000602214	0.000639593	1	1	0
AC005609.1	0	broad.mit.edu	37	5	140242942	140242942	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:140242942G>A	ENST00000502505.1	-	1	282	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron																							ACGACGCTGCGGTGCTTGGCG	0.612000													13	30					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35825576	35825576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:35825576G>T	ENST00000394395.2	+	11	927	c.754G>T	c.(754-756)Gaa>Taa	p.E252*	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Nonsense_Mutation_p.E252*|TADA2A_ENST00000417170.1_Nonsense_Mutation_p.E252*|TADA2A_ENST00000225396.6_Nonsense_Mutation_p.E252*	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	252					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GGACCTGTATGAAACAATGAG	0.423000													9	78					0.000442599	0.000473335	1	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52004786	52004786	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:52004786C>A	ENST00000291707.3	-	1	257	c.202G>T	c.(202-204)Gac>Tac	p.D68Y		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	68	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTTACATGGTCCCCTGCCCGG	0.592000													32	79					2.81731e-10	3.67061e-10	1	1	0
USH1G	124590	broad.mit.edu	37	17	72916420	72916420	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:72916420C>G	ENST00000319642.1	-	2	693	c.511G>C	c.(511-513)Gag>Cag	p.E171Q		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	171					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TCGGAACGCTCGGCCAGCTCG	0.706000													5	45					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247151164	247151164	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:247151164C>T	ENST00000339986.7	-	4	800	c.653G>A	c.(652-654)gGc>gAc	p.G218D	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	218					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAAGGCTTTGCCACATTTTTT	0.353000													33	109					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64421820	64421820	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:64421820G>A	ENST00000262043.3	+	16	4676	c.4336G>A	c.(4336-4338)Gtg>Atg	p.V1446M	PHF3_ENST00000393387.1_Missense_Mutation_p.V1446M			Q92576	PHF3_HUMAN	PHD finger protein 3	1446					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCTTCCTGGCGTGTTGATTGG	0.443000													16	183					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103130346	103130346	+	Splice_Site	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:103130346A>G	ENST00000428762.1	-	60	9765	c.9605_splice	c.e60-1	p.S3202_splice	RELN_ENST00000343529.5_Splice_Site_p.S3202_splice|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Splice_Site_p.S3202_splice	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3202					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGTGTTGCACTGAAAGAAC	0.512000													11	44					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36460277	36460277	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:36460277A>C	ENST00000265748.2	+	12	2308	c.2087A>C	c.(2086-2088)aAg>aCg	p.K696T	ANLN_ENST00000396068.2_Missense_Mutation_p.K659T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	696					cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATTGTTCGGAAGGAAGATGTT	0.353000													36	172					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95347055	95347055	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:95347055G>T	ENST00000371483.4	+	4	879	c.823G>T	c.(823-825)Gac>Tac	p.D275Y	FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Missense_Mutation_p.D259Y	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		GTCCCAGCAGGACTTCCGGCT	0.547000													37	92					3.21399e-22	5.11317e-22	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51900723	51900723	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:51900723G>A	ENST00000268919.4	+	1	485	c.329G>A	c.(328-330)cGt>cAt	p.R110H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	110					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGGACCAGCGTACCGCCACG	0.607000													31	94					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17844222	17844222	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:17844222G>T	ENST00000324096.4	+	6	3160	c.3009G>T	c.(3007-3009)tgG>tgT	p.W1003C	MAP1S_ENST00000544059.2_Missense_Mutation_p.W977C|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1003	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						AGCAGCATTGGGACCGTGACC	0.622000													5	17					0.00116845	0.00123247	1	1	0
DCUN1D5	84259	broad.mit.edu	37	11	102933091	102933091	+	Silent	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:102933091T>C	ENST00000260247.5	-	8	1053	c.711A>G	c.(709-711)tcA>tcG	p.S237S	DCUN1D5_ENST00000531543.1_Silent_p.S152S	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	237										NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		GTTCTTGCTATGATGTCTGAC	0.378000													22	89					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102595581	102595581	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:102595581C>G	ENST00000330847.1	+	4	1176	c.1132C>G	c.(1132-1134)Ctg>Gtg	p.L378V	NR4A3_ENST00000338488.4_Missense_Mutation_p.L367V|NR4A3_ENST00000395097.2_Missense_Mutation_p.L367V			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	367					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TACAGATAGTCTGAAAGGGAG	0.428000			T	EWSR1	extraskeletal myxoid chondrosarcoma								9	100					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187529274	187529274	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:187529274A>T	ENST00000261023.3	+	20	2253	c.1979A>T	c.(1978-1980)aAg>aTg	p.K660M	ITGAV_ENST00000374907.3_Missense_Mutation_p.K624M|ITGAV_ENST00000433736.2_Missense_Mutation_p.K614M|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	660					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTGATTGTTAAGGCTCAGAAT	0.418000													29	267					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320309	247320309	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:247320309G>T	ENST00000340684.6	-	4	567	c.429C>A	c.(427-429)ccC>ccA	p.P143P	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000543802.2_Silent_p.P205P	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P143P(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TACATTCATAGGGTTTCTCTC	0.438000													38	140					2.59497e-14	3.72785e-14	1	1	0
SERPINB11	89778	broad.mit.edu	37	18	61390622	61390622	+	RNA	SNP	G	G	T	rs34618823		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:61390622G>T	ENST00000544088.1	+	0	1230				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGCAAGCTTGCCTCTCCCTA	0.488000													32	120					1.60099e-16	2.38445e-16	1	1	0
S100A12	6283	broad.mit.edu	37	1	153346389	153346389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:153346389G>A	ENST00000368737.3	-	3	310	c.193C>T	c.(193-195)Caa>Taa	p.Q65*		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	65	EF-hand 2.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TGTTCATCTTGATTAGCATCC	0.438000													38	147					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14083597	14083597	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:14083597G>A	ENST00000254325.4	-	9	1506	c.1272C>T	c.(1270-1272)gcC>gcT	p.A424A		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	424					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			AAGACTGGCTGGCACTGCCCA	0.706000													9	23					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47104811	47104811	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:47104811G>A	ENST00000377107.2	+	17	2554	c.2200G>A	c.(2200-2202)Gct>Act	p.A734T	USP11_ENST00000218348.3_Missense_Mutation_p.A777T			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	777					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GATGAAGAAGGCTCCCGTGCG	0.592000													32	35					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698792	17698792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:17698792G>T	ENST00000399080.2	-	1	914	c.891C>A	c.(889-891)taC>taA	p.Y297*		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	297										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTGGGACCAGTAAATGTTTG	0.313000													20	136					8.10497e-08	9.90608e-08	1	1	0
SACS	26278	broad.mit.edu	37	13	23915638	23915638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:23915638C>A	ENST00000382298.3	-	10	2965	c.2377G>T	c.(2377-2379)Gat>Tat	p.D793Y	SACS_ENST00000402364.1_Missense_Mutation_p.D43Y|SACS_ENST00000382292.3_Missense_Mutation_p.D793Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	793					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAGTCAAATCCTCTGAAAAA	0.358000													13	104					4.3838e-07	5.20112e-07	1	1	0
TFAP2B	7021	broad.mit.edu	37	6	50786681	50786681	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:50786681A>C	ENST00000263046.4	+	1	243	c.77A>C	c.(76-78)tAt>tCt	p.Y26S	TFAP2B_ENST00000393655.3_Missense_Mutation_p.Y26S			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	26					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAAGATATCTATGAGGTGAGT	0.443000													13	55					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49068419	49068419	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:49068419T>A	ENST00000376265.2	-	35	4133	c.4072A>T	c.(4072-4074)Aca>Tca	p.T1358S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.T1347S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.T1293S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1358					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTTATCTGTGTGCCATCCTGA	0.532000													82	67					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3075773	3075773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:3075773G>T	ENST00000326266.8	+	2	400	c.104G>T	c.(103-105)tGt>tTt	p.C35F	THOC6_ENST00000575576.1_Missense_Mutation_p.C11F|THOC6_ENST00000253952.9_Missense_Mutation_p.C35F|THOC6_ENST00000574549.1_Missense_Mutation_p.C11F	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	35					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GTCTCACCATGTGGGAAGTTT	0.587000													18	78					6.44725e-10	8.30165e-10	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48604733	48604733	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:48604733A>T	ENST00000342988.3	+	12	2093	c.1555A>T	c.(1555-1557)Aaa>Taa	p.K519*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.K423*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.K519*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	519	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.S517fs*7(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ACAGAGCATCAAAGAAACACC	0.488000													29	80					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24771966	24771966	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:24771966G>T	ENST00000221166.5	+	1	1442	c.660G>T	c.(658-660)ctG>ctT	p.L220L	NEFM_ENST00000518131.1_Silent_p.L220L|NEFM_ENST00000437366.2_Silent_p.L220L|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	220	Coil 1B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGTGGAGCTGGACAAGAAGG	0.652000													5	35					0.014758	0.0150512	1	1	0
WNK2	65268	broad.mit.edu	37	9	96054672	96054672	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:96054672C>T	ENST00000297954.4	+	22	5130	c.5130C>T	c.(5128-5130)gtC>gtT	p.V1710V	WNK2_ENST00000427277.2_Silent_p.V1285V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Silent_p.V37V|WNK2_ENST00000395477.2_Silent_p.V1673V|WNK2_ENST00000349097.3_Silent_p.V1322V			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1710					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCCCAGCGTCCCCCAGGTAA	0.557000													12	137					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721151	222721151	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:222721151G>T	ENST00000343410.6	-	1	294	c.236C>A	c.(235-237)gCt>gAt	p.A79D		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	79					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTACCGGGCAGCGATGCGGCG	0.517000													18	74					2.48551e-13	3.49879e-13	1	1	0
ABCA8	10351	broad.mit.edu	37	17	66881424	66881424	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:66881424G>T	ENST00000269080.2	-	25	3479	c.3342C>A	c.(3340-3342)ttC>ttA	p.F1114L	ABCA8_ENST00000586539.1_Missense_Mutation_p.F1154L|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1154L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1114						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CGAAGATACTGAACGCAAATC	0.358000													30	70					1.30897e-18	2.01179e-18	1	1	0
GPR125	166647	broad.mit.edu	37	4	22438236	22438236	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:22438236C>A	ENST00000334304.5	-	9	1383	c.1114G>T	c.(1114-1116)Gca>Tca	p.A372S	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.A146S|GPR125_ENST00000502482.1_Missense_Mutation_p.A372S	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	372					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGCAGATATGCAGTAATGCCT	0.458000													16	62					3.52763e-06	4.06628e-06	1	1	0
NPTX2	4885	broad.mit.edu	37	7	98249012	98249012	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:98249012C>A	ENST00000265634.3	+	2	649	c.484C>A	c.(484-486)Ctc>Atc	p.L162I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	162					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCGCGAGGTGCTCCAGCAGCG	0.637000													29	93					8.16721e-17	1.22112e-16	1	1	0
MDM4	4194	broad.mit.edu	37	1	204513695	204513695	+	Silent	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:204513695A>T	ENST00000367182.3	+	9	867	c.705A>T	c.(703-705)acA>acT	p.T235T	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000454264.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	235					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CAGATACTACAGATGACTTGT	0.368000			A		"""GBM, bladder, retinoblastoma"""								19	82					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936514	4936514	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:4936514C>A	ENST00000322013.3	-	1	408	c.380G>T	c.(379-381)cGc>cTc	p.R127L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCACAAAGCGGTCAAAGGC	0.507000													14	41					4.3838e-07	5.20112e-07	1	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94685949	94685949	+	Splice_Site	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:94685949C>A	ENST00000260526.6	-	3	388		c.e3-1		ARHGAP29_ENST00000370217.3_Splice_Site	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29						Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTAAAACAGTCtttaaaaaga	0.303000													10	53					1.58986e-06	1.84367e-06	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112697	248112697	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:248112697G>T	ENST00000357191.3	+	1	538	c.538G>T	c.(538-540)Gtc>Ttc	p.V180F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTCTGTGATGTCCCAGCAAT	0.473000													31	123					8.16721e-17	1.22112e-16	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130282322	130282322	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:130282322G>A	ENST00000358511.6	+	2	506	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	COL6A6_ENST00000453409.2_Missense_Mutation_p.V159M	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	159	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAAGACGGAGTGAAAATCAT	0.493000													8	82					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153751843	153751843	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:153751843C>A	ENST00000271857.2	+	9	2913	c.2153C>A	c.(2152-2154)gCa>gAa	p.A718E	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.A637E			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	637					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTGGAATGGCAGCCCTAGTT	0.622000													13	137					0.000219431	0.000237975	1	1	0
NUP153	9972	broad.mit.edu	37	6	17632986	17632986	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:17632986C>T	ENST00000262077.2	-	17	2553	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	NUP153_ENST00000537253.1_Missense_Mutation_p.E883K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	852					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CAGCTTCCCTCGGGTTTCTTG	0.458000													32	150					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899422	133899422	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:133899422T>A	ENST00000220616.4	+	9	1845	c.1805T>A	c.(1804-1806)gTa>gAa	p.V602E	TG_ENST00000377869.1_Missense_Mutation_p.V602E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	602					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGAAACGGTACTCAGCTCC	0.488000													83	92					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960237	33960237	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:33960237C>A	ENST00000361328.3	+	8	2446	c.2293C>A	c.(2293-2295)Ccc>Acc	p.P765T		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	765					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGAGAGAAGCCCTATAAATG	0.443000													34	165					2.20262e-25	3.61624e-25	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40604114	40604114	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:40604114T>C	ENST00000342449.3	-	25	3067	c.2989A>G	c.(2989-2991)Atg>Gtg	p.M997V	BRWD1_ENST00000333229.2_Missense_Mutation_p.M997V|BRWD1_ENST00000380800.3_Missense_Mutation_p.M997V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTAAGATCCATTTTTCTCCAT	0.308000													10	56					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237801687	237801687	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:237801687C>G	ENST00000366574.2	+	45	7140	c.6823C>G	c.(6823-6825)Caa>Gaa	p.Q2275E	RYR2_ENST00000542537.1_Missense_Mutation_p.Q2259E|RYR2_ENST00000360064.6_Missense_Mutation_p.Q2273E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2275	4 X approximate repeats.				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			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)			TTGTGGACTGCAAAGTTGCCA	0.423000													44	198					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116539939	116539939	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:116539939C>G	ENST00000410059.1	+	17	1975	c.1495C>G	c.(1495-1497)Cca>Gca	p.P499A	DPP10_ENST00000393147.2_Missense_Mutation_p.P503A|DPP10_ENST00000310323.8_Missense_Mutation_p.P492A|DPP10_ENST00000409163.1_Missense_Mutation_p.P449A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	499					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCCAAGGGTCCCAGTGGTCAG	0.343000													29	87					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339325	79339325	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:79339325C>T	ENST00000419573.3	-	5	915	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R214Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	214	IQ.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.R214Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGCCAGCCCCGCAGGAAGCT	0.627000													12	59					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98666432	98666432	+	Silent	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:98666432A>T	ENST00000261574.5	+	22	2523	c.2343A>T	c.(2341-2343)tcA>tcT	p.S781S	IPO5_ENST00000490680.1_Silent_p.S763S|IPO5_ENST00000539640.1_Silent_p.S638S	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	763					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AACCAGATTCAGACGTCCTCT	0.368000													31	139					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18875119	18875119	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:18875119G>A	ENST00000406451.3	+	20	2637	c.2487G>A	c.(2485-2487)caG>caA	p.Q829Q	HDAC9_ENST00000401921.1_Silent_p.Q788Q|HDAC9_ENST00000441542.2_Silent_p.Q832Q|HDAC9_ENST00000432645.2_Silent_p.Q829Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	829	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTACCCAGCAGGCCTTTTATG	0.458000													12	63					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17131234	17131234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:17131234C>A	ENST00000285071.4	-	4	672	c.218G>T	c.(217-219)aGc>aTc	p.S73I	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.S73I	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	73					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGCCCCGGGCTGCTGGACTC	0.612000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				15	62					4.7546e-09	5.95292e-09	1	1	0
APOB	338	broad.mit.edu	37	2	21234025	21234025	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:21234025C>T	ENST00000233242.1	-	26	5842	c.5715G>A	c.(5713-5715)atG>atA	p.M1905I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1905					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCGATGGTCATGGTAAACG	0.478000													60	216					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83159101	83159101	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:83159101G>A	ENST00000566620.1	+	4	768	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	CDH13_ENST00000428848.3_Intron|CDH13_ENST00000565636.1_Missense_Mutation_p.G160S|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.G207S|CDH13_ENST00000446376.2_Missense_Mutation_p.G160S|CDH13_ENST00000431540.3_Missense_Mutation_p.G160S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	160	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAGAGATGTTGGCAAGGTAAG	0.413000													5	33					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330149	125330149	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:125330149T>C	ENST00000304865.2	-	1	689	c.608A>G	c.(607-609)gAa>gGa	p.E203G		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AATAGGTGCTTCTGTCATCTG	0.428000													20	58					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569939	248569939	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:248569939G>A	ENST00000366474.1	+	1	644	c.644G>A	c.(643-645)aGc>aAc	p.S215N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ATCACCATGAGCTTTCCCTTC	0.542000													14	110					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111420388	111420388	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:111420388G>T	ENST00000375614.2	+	3	765	c.429G>T	c.(427-429)gtG>gtT	p.V143V	LAYN_ENST00000436913.2_Intron|LAYN_ENST00000375615.3_Silent_p.V151V|LAYN_ENST00000525126.1_Silent_p.V151V|LAYN_ENST00000528924.1_Intron|LAYN_ENST00000533265.1_Silent_p.V143V	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	151	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AGGTCTGCGTGGTCATGTACC	0.547000													23	95					4.26978e-12	5.80871e-12	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171504572	171504572	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:171504572G>A	ENST00000367742.3	+	13	2121	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	PRRC2C_ENST00000426496.2_Missense_Mutation_p.E625K|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E627K|PRRC2C_ENST00000338920.4_Missense_Mutation_p.E625K			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	625	Glu-rich.						protein C-terminus binding										AGCAGAGGAGGAACCCGTTTT	0.423000													8	72					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162274751	162274751	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:162274751G>C	ENST00000389554.3	+	3	1204	c.887G>C	c.(886-888)gGg>gCg	p.G296A	TBR1_ENST00000410035.1_Missense_Mutation_p.G9A	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCCAACACTGGGGCTCACTGG	0.473000													24	47					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765912	18765912	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:18765912G>T	ENST00000304081.4	-	4	691	c.591C>A	c.(589-591)acC>acA	p.T197T	NT5C1B_ENST00000359846.2_Silent_p.T257T|NT5C1B_ENST00000600945.1_Silent_p.T257T|NT5C1B-RDH14_ENST00000532967.1_Silent_p.T257T	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGTCCAGCTGGGTGGAGGCGG	0.662000													7	18					8.12818e-05	8.91553e-05	1	1	0
NRBP1	29959	broad.mit.edu	37	2	27660166	27660166	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:27660166C>G	ENST00000233557.3	+	11	1674	c.842C>G	c.(841-843)tCa>tGa	p.S281*	NRBP1_ENST00000379863.3_Nonsense_Mutation_p.S289*|NRBP1_ENST00000379852.3_Nonsense_Mutation_p.S281*			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	281	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GGAGAGTCCTCATATGTGCCA	0.473000													14	41					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74481227	74481227	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:74481227G>A	ENST00000437994.2	+	15	2181	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	CD109_ENST00000422508.2_Missense_Mutation_p.D507N|CD109_ENST00000287097.5_Missense_Mutation_p.D584N	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	584						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACACAGCCTGACTCCATAGT	0.358000													19	67					0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70408788	70408788	+	Silent	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:70408788C>G	ENST00000264434.2	-	3	709	c.330G>C	c.(328-330)ctG>ctC	p.L110L	C2orf42_ENST00000470096.1_5'UTR|C2orf42_ENST00000420306.1_Silent_p.L110L	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	110										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GTCCAGAGCTCAGCTGAGTGA	0.562000													23	92					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151859670	151859670	+	Silent	SNP	G	G	A	rs149510534	byFrequency	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:151859670G>A	ENST00000355193.2	-	43	11210	c.10992C>T	c.(10990-10992)gtC>gtT	p.V3664V	KMT2C_ENST00000262189.6_Silent_p.V3664V					lysine (K)-specific methyltransferase 2C																		TGGATGGGCCGACTGGTTCCA	0.517000													42	181					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103277449	103277449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:103277449C>T	ENST00000520539.1	-	53	8086	c.7480G>A	c.(7480-7482)Gat>Aat	p.D2494N	UBR5_ENST00000521922.1_Missense_Mutation_p.D2487N|UBR5_ENST00000518205.1_Missense_Mutation_p.D222N|UBR5_ENST00000220959.4_Missense_Mutation_p.D2493N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2494	Asp/Glu-rich (acidic).|HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCATCTGTATCATCTAAATCC	0.428000													39	87					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154227664	154227664	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:154227664C>T	ENST00000428931.1	+	17	2113	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	UBAP2L_ENST00000271877.7_Missense_Mutation_p.S660F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S649F|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S649F	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	649					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATTCACCTTCCACTTCTAGC	0.458000													16	165					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103277369	103277369	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:103277369C>G	ENST00000520539.1	-	53	8166	c.7560G>C	c.(7558-7560)aaG>aaC	p.K2520N	UBR5_ENST00000521922.1_Missense_Mutation_p.K2513N|UBR5_ENST00000518205.1_Missense_Mutation_p.K248N|UBR5_ENST00000220959.4_Missense_Mutation_p.K2519N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2520	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCTGTGTTCTTGCCAGGCC	0.343000													52	115					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113347559	113347559	+	Splice_Site	SNP	G	G	A	rs61754528		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:113347559G>A	ENST00000297405.5	-	45	7408	c.7165_splice	c.e45+1	p.H2388_splice	CSMD3_ENST00000352409.3_Splice_Site_p.H2318_splice|CSMD3_ENST00000343508.3_Splice_Site_p.H2348_splice|CSMD3_ENST00000455883.2_Splice_Site_p.H2284_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2388	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATACCAACCGTGATAACTGA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	100					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74283816	74283816	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:74283816C>A	ENST00000295897.4	+	12	1529	c.1440C>A	c.(1438-1440)gtC>gtA	p.V480V	ALB_ENST00000401494.3_Silent_p.V365V|ALB_ENST00000503124.1_Silent_p.V330V|ALB_ENST00000415165.2_Silent_p.V288V|ALB_ENST00000509063.1_Silent_p.V480V|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	480	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TATCCGTGGTCCTGAACCAGT	0.433000											OREG0007698	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ALB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	17	83					4.7546e-09	5.95292e-09	1	1	0
SCML2	10389	broad.mit.edu	37	X	18323300	18323300	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:18323300C>A	ENST00000251900.4	-	7	681	c.522G>T	c.(520-522)gtG>gtT	p.V174V		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	174					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GTTTCATCCCCACTTTAAAAT	0.358000													26	184					4.26978e-12	5.80871e-12	1	1	0
RAD54L2	23132	broad.mit.edu	37	3	51696660	51696660	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:51696660A>T	ENST00000409535.1	+	22	3753	c.3628A>T	c.(3628-3630)Atg>Ttg	p.M1210L	RAD54L2_ENST00000296477.3_Missense_Mutation_p.M904L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1210						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGCCCAACTTATGGACAGCAG	0.622000													11	52					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572808	140572808	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:140572808T>C	ENST00000239446.4	+	1	867	c.683T>C	c.(682-684)gTa>gCa	p.V228A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTCTACTGTACGCATCGTT	0.552000													37	92					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747196	10747196	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:10747196G>T	ENST00000586078.1	+	15	1540	c.1431G>T	c.(1429-1431)tgG>tgT	p.W477C	SLC44A2_ENST00000407327.4_Missense_Mutation_p.W475C|SLC44A2_ENST00000335757.5_Missense_Mutation_p.W477C	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	477					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCTACTACTGGGCCCTGCGCA	0.657000													33	54					6.50621e-10	8.36358e-10	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26875473	26875473	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:26875473T>A	ENST00000381340.3	-	5	798	c.382A>T	c.(382-384)Agc>Tgc	p.S128C	ITPR2_ENST00000242737.5_Missense_Mutation_p.S128C	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	128	MIR 1.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TATTTGTTGCTTTTTATATGC	0.358000													47	99					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539612	133539612	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:133539612G>T	ENST00000409261.1	-	14	5145	c.4772C>A	c.(4771-4773)cCa>cAa	p.P1591Q	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1591Q|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1591							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AATGTCTTGTGGTGTTCTCCG	0.428000													22	86					6.33239e-15	9.18256e-15	1	1	0
FBXO47	494188	broad.mit.edu	37	17	37101262	37101262	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:37101262A>T	ENST00000378079.2	-	7	943	c.744T>A	c.(742-744)aaT>aaA	p.N248K		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	248										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATCTTGCCTGATTCACCATTG	0.403000													9	191					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766141	27766141	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:27766141G>T	ENST00000451261.2	+	5	1528	c.1129G>T	c.(1129-1131)Gcc>Tcc	p.A377S		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTGAATCCCGCCAATACCTA	0.408000													7	41					1.26484e-09	1.61782e-09	1	1	0
RXFP2	122042	broad.mit.edu	37	13	32376335	32376335	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:32376335G>A	ENST00000298386.2	+	18	2129	c.2058G>A	c.(2056-2058)ttG>ttA	p.L686L	RXFP2_ENST00000380314.1_Silent_p.L662L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	686						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACAGTGCTTTGAATCCAATCC	0.328000													25	77					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78113486	78113486	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:78113486T>C	ENST00000269349.3	-	6	790	c.569A>G	c.(568-570)gAt>gGt	p.D190G		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	190	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CAACATTTCATCAGCTTCATC	0.328000													13	65					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904587	88904587	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:88904587A>G	ENST00000556553.1	+	12	2084	c.1525A>G	c.(1525-1527)Att>Gtt	p.I509V	SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000356583.5_Missense_Mutation_p.I509V|SPATA7_ENST00000393545.4_Missense_Mutation_p.I541V			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	541					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TGTGAATGTCATTGAAGGTGA	0.383000													12	162					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191805	5191805	+	Silent	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:5191805A>T	ENST00000274181.7	+	8	1353	c.1215A>T	c.(1213-1215)gcA>gcT	p.A405A	ADAMTS16_ENST00000511368.1_Silent_p.A405A	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	405	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGGATTTGCACCCATAAGTG	0.383000													70	126					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18393628	18393628	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:18393628C>A	ENST00000338745.6	-	10	3369	c.1635G>T	c.(1633-1635)ctG>ctT	p.L545L	SATB1_ENST00000454909.2_Silent_p.L545L|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.L545L	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	545					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTTCTCCCACAGGGTTCTGT	0.507000													24	65					4.4004e-07	5.21278e-07	1	1	0
CEP170	9859	broad.mit.edu	37	1	243349344	243349344	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:243349344C>A	ENST00000366542.1	-	10	1354	c.1303G>T	c.(1303-1305)Ggt>Tgt	p.G435C	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	435						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTGGAACACCATGCCCCCCT	0.443000													12	54					2.80697e-09	3.54323e-09	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57769371	57769371	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:57769371C>A	ENST00000371030.2	+	1	3297	c.3297C>A	c.(3295-3297)ccC>ccA	p.P1099P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1099						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTGGGTACCCAACTGGGAGC	0.647000													13	71					0.0167234	0.0170331	1	1	0
SALL1	6299	broad.mit.edu	37	16	51175681	51175681	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:51175681C>A	ENST00000440970.1	-	2	592	c.161G>T	c.(160-162)aGc>aTc	p.S54I	SALL1_ENST00000251020.4_Missense_Mutation_p.S151I|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	151					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			gctgctgctgctgctTGGGGC	0.637000													7	35					0.0293803	0.0296888	1	1	0
CTSA	5476	broad.mit.edu	37	20	44521860	44521860	+	Splice_Site	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr20:44521860G>T	ENST00000372484.3	+	7	938	c.654_splice	c.e7-1	p.G219_splice	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372459.2_Splice_Site_p.G201_splice|CTSA_ENST00000354880.5_Splice_Site_p.G202_splice|CTSA_ENST00000191018.5_Splice_Site_p.G201_splice	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	201					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GTTTCACAGGGGCTGGCTGTG	0.552000													6	47					5.9392e-07	6.97132e-07	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11049486	11049486	+	RNA	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:11049486C>A	ENST00000470054.1	-	0	622									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATTGCCAACCTGCACG	0.448000													30	313					2.19358e-23	3.57094e-23	1	1	0
GNAT3	346562	broad.mit.edu	37	7	80091624	80091624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:80091624C>A	ENST00000398291.3	-	7	818	c.725G>T	c.(724-726)aGa>aTa	p.R242I	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	242					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTCATGCATTCTATTCTGTTA	0.333000													12	53					2.27111e-07	2.72817e-07	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70371066	70371066	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:70371066C>A	ENST00000377844.4	-	7	2202	c.1443G>T	c.(1441-1443)ctG>ctT	p.L481L	KLHL1_ENST00000545028.1_Silent_p.L288L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	481					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GATTTGTTCTCAGATCATATT	0.403000													10	195					1.08611e-07	1.31701e-07	1	1	0
DNAJC3	5611	broad.mit.edu	37	13	96439306	96439306	+	Silent	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:96439306A>T	ENST00000602402.1	+	11	1371	c.1254A>T	c.(1252-1254)gcA>gcT	p.A418A	DNAJC3_ENST00000376795.6_Silent_p.A367A	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	418	J.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GAAAATTAGCACTGCAGTGGC	0.353000													34	121					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974765	49974765	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:49974765C>A	ENST00000555099.1	+	1	823	c.791C>A	c.(790-792)cCc>cAc	p.P264H		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P264H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCTACTTTACCCATTGATAAA	0.408000													51	153					2.01807e-28	3.39282e-28	1	1	0
PVRL4	81607	broad.mit.edu	37	1	161049394	161049394	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:161049394C>T	ENST00000368012.3	-	2	727	c.425G>A	c.(424-426)cGg>cAg	p.R142Q		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	142	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CACTCGGAGCCGCAGCCGCGC	0.672000													3	27					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594426	70594426	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:70594426C>G	ENST00000260126.3	-	7	2481	c.1775G>C	c.(1774-1776)aGc>aCc	p.S592T	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.S592T|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S537T	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	592	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CACCCCAGTGCTAAGATTACC	0.413000													40	115					0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21896619	21896619	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:21896619C>A	ENST00000379484.5	+	9	1169	c.1070C>A	c.(1069-1071)aCa>aAa	p.T357K		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	357	Cys-rich.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TTATAGCATACATGTCTTCCT	0.313000													12	138					1.61879e-10	2.12708e-10	1	1	0
TTN	7273	broad.mit.edu	37	2	179458345	179458345	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:179458345C>T	ENST00000589042.1	-	298	58906	c.58682G>A	c.(58681-58683)gGa>gAa	p.G19561E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17920E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10496E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16993E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10688E|TTN_ENST00000359218.5_Missense_Mutation_p.G10621E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17920	Ig-like 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCACTTATTCCATACAGATT	0.333000													8	40					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136104	40136104	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:40136104G>T	ENST00000278198.2	-	2	3702	c.1739C>A	c.(1738-1740)cCc>cAc	p.P580H	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P580H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P580H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P580H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	580					regulation of axonogenesis	integral to membrane	protein binding	p.P580R(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTTTCCATGGGTGTGTCTCC	0.453000													37	118					4.65686e-17	7.00349e-17	1	1	0
HR	55806	broad.mit.edu	37	8	21985314	21985314	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:21985314G>A	ENST00000381418.4	-	3	2121	c.641C>T	c.(640-642)cCc>cTc	p.P214L	HR_ENST00000312841.8_Missense_Mutation_p.P214L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	214							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGCCAACCTGGGAATGCTCGG	0.562000													47	113					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260542	30260542	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:30260542C>A	ENST00000378982.2	+	1	486	c.290C>A	c.(289-291)gCc>gAc	p.A97D		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	97										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TCCTCCCAGGCCTCAACATCC	0.483000													10	25					0.00621372	0.00640504	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237387	140237387	+	Missense_Mutation	SNP	T	T	G	rs251364	by1000genomes	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:140237387T>G	ENST00000307360.5	+	1	1754	c.1754T>G	c.(1753-1755)gTt>gGt	p.V585G	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCGGTGGTTGCGGGTCAC	0.662000													4	48					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114322231	114322231	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:114322231G>T	ENST00000335678.6	+	1	762	c.530G>T	c.(529-531)tGg>tTg	p.W177L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	177	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TTCCTGCAGTGGAAGTGGCTG	0.652000													4	12					0.184627	0.184627	1	1	0
PALLD	23022	broad.mit.edu	37	4	169433403	169433403	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:169433403G>A	ENST00000261509.6	+	2	959	c.748G>A	c.(748-750)Gca>Aca	p.A250T	PALLD_ENST00000333488.4_Missense_Mutation_p.A127T|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.A250T	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	250					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCAGGACTTGGCAGTGCCACA	0.592000									Pancreatic Cancer, Familial Clustering of				16	113					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137481528	137481528	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:137481528C>T	ENST00000254900.5	-	24	3689	c.3318G>A	c.(3316-3318)ttG>ttA	p.L1106L		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1106					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTTAAATAGCAAATGATCCT	0.408000													15	62					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087760	175087760	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:175087760G>T	ENST00000239462.4	+	11	2563	c.2450G>T	c.(2449-2451)tGg>tTg	p.W817L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	817	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACTGTCTCCTGGGACCCGGTG	0.532000													24	127					9.57634e-11	1.2648e-10	1	1	0
LMAN2L	81562	broad.mit.edu	37	2	97373562	97373562	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:97373562C>T	ENST00000264963.4	-	7	815	c.793G>A	c.(793-795)Gat>Aat	p.D265N	LMAN2L_ENST00000377079.4_Missense_Mutation_p.D276N|LMAN2L_ENST00000537039.1_Missense_Mutation_p.D127N|LMAN2L_ENST00000534882.1_Missense_Mutation_p.D120N|LMAN2L_ENST00000426463.2_Missense_Mutation_p.D131N	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	265	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GAAATGACATCATGATTATCT	0.408000													38	143					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917192	54917192	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:54917192C>T	ENST00000293373.6	+	19	1972	c.1893C>T	c.(1891-1893)caC>caT	p.H631H	NCKAP1L_ENST00000545638.2_Silent_p.H581H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	631					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TACCTAAGCACTGTGCCACTA	0.468000													60	192					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68910479	68910479	+	Silent	SNP	G	G	T	rs61771495		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:68910479G>T	ENST00000262340.5	-	4	386	c.333C>A	c.(331-333)ccC>ccA	p.P111P		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	111					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TATTCTTGCAGGGATCTGGGA	0.413000													13	100					4.36969e-10	5.64541e-10	1	1	0
CWH43	80157	broad.mit.edu	37	4	48996821	48996821	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:48996821G>T	ENST00000226432.4	+	5	880	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	CWH43_ENST00000513409.1_Missense_Mutation_p.D206Y	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	233					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TCCAGGGCCAGATCCTAACCC	0.512000													20	94					2.4624e-09	3.11337e-09	1	1	0
CHSY1	22856	broad.mit.edu	37	15	101775446	101775446	+	Missense_Mutation	SNP	G	G	C	rs139411585	by1000genomes	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:101775446G>C	ENST00000254190.3	-	2	1132	c.657C>G	c.(655-657)tgC>tgG	p.C219W		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	219					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCCCCCATGCAGAAGTTCT	0.602000													8	51					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	19992763	19992763	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:19992763C>T	ENST00000289753.1	+	1	984	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	173					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GGGCCACGCACGGCCACCCGT	0.711000													8	37					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5083425	5083425	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:5083425C>T	ENST00000312251.3	-	2	410	c.391G>A	c.(391-393)Gac>Aac	p.D131N	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.D131N	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	131					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ACACGGCAGTCGGCCGCCCGC	0.741000													5	9					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114441989	114441989	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:114441989C>A	ENST00000375478.3	-	6	1486	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	NXPE4_ENST00000424261.2_Missense_Mutation_p.G152C	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		AAATGCTGGCCCAGGGAAATA	0.453000													56	214					2.73381e-35	4.67785e-35	1	1	0
DHCR24	1718	broad.mit.edu	37	1	55319778	55319778	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:55319778C>G	ENST00000371269.3	-	7	1248	c.1150G>C	c.(1150-1152)Gtg>Ctg	p.V384L	DHCR24_ENST00000537443.1_Missense_Mutation_p.V168L|DHCR24_ENST00000535035.1_Missense_Mutation_p.V343L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	384		Cleavage; by caspase (Potential).			anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						ATGTCCTGCACCACGTGGTGC	0.627000													5	40					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89180020	89180020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:89180020C>A	ENST00000286614.6	-	4	868	c.587G>T	c.(586-588)aGc>aTc	p.S196I	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	196					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AAAGGGAGAGCTGTCCCCATG	0.448000													31	87					6.07407e-21	9.54497e-21	1	1	0
NOD2	64127	broad.mit.edu	37	16	50753905	50753905	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:50753905C>A	ENST00000300589.2	+	7	2805	c.2700C>A	c.(2698-2700)tcC>tcA	p.S900S		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	900					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCAACACCTCCTTGCAGTTCC	0.587000													19	108					1.45105e-14	2.09234e-14	1	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37125163	37125163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:37125163C>A	ENST00000421307.1	-	20	1664	c.1242G>T	c.(1240-1242)atG>atT	p.M414I	LRRFIP2_ENST00000440230.1_Missense_Mutation_p.M182I|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.M414I|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.M230I|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.M182I|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.M158I	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	414					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AAAATTCTGCCATCTGTTCCT	0.368000													20	134					8.04996e-18	1.22985e-17	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113563042	113563042	+	Silent	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:113563042A>T	ENST00000297405.5	-	27	4666	c.4422T>A	c.(4420-4422)ggT>ggA	p.G1474G	CSMD3_ENST00000352409.3_Silent_p.G1474G|CSMD3_ENST00000343508.3_Silent_p.G1434G|CSMD3_ENST00000455883.2_Silent_p.G1370G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1474	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCTGGTGGACCGTCCCAGA	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			31	89					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131926382	131926382	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:131926382C>G	ENST00000403834.3	-	14	1802	c.1629G>C	c.(1627-1629)atG>atC	p.M543I	MED23_ENST00000354577.4_Missense_Mutation_p.M543I|MED23_ENST00000368053.4_Missense_Mutation_p.M543I|MED23_ENST00000368060.3_Missense_Mutation_p.M537I|MED23_ENST00000368058.1_Missense_Mutation_p.M543I|MED23_ENST00000539158.1_Intron|MED23_ENST00000545957.1_Missense_Mutation_p.M178I|MED23_ENST00000540546.1_Missense_Mutation_p.M543I|MED23_ENST00000368068.3_Missense_Mutation_p.M537I			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	537					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GAACATACCTCATTTTGGCAT	0.363000													14	61					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154226537	154226537	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:154226537C>T	ENST00000428931.1	+	15	1993	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	UBAP2L_ENST00000271877.7_Missense_Mutation_p.S620L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S609L|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S609L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	609					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCTCTTCATCACCCCAAAAG	0.458000													14	71					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689623	74689623	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:74689623G>A	ENST00000233616.4	-	4	1455	c.1293C>T	c.(1291-1293)ccC>ccT	p.P431P	MOGS_ENST00000452063.2_Silent_p.P325P|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	431					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AAAGAGGTACGGGTGGAAAGA	0.567000													8	121					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208893	1208893	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:1208893G>A	ENST00000304460.10	+	2	291	c.235G>A	c.(235-237)Gtc>Atc	p.V79I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	79					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATCCTGCTGGTCCTGGAGGG	0.672000													59	100					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210485	28210485	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:28210485C>G	ENST00000284984.2	-	9	2771	c.2317G>C	c.(2317-2319)Gct>Cct	p.A773P		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	773	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTGCCATCAGCAGCTTTGATG	0.463000													9	61					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089089	86089089	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:86089089T>C	ENST00000330753.4	+	2	1998	c.1231T>C	c.(1231-1233)Tgg>Cgg	p.W411R	FLRT2_ENST00000554746.1_Missense_Mutation_p.W411R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	411					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATTCCTGACTGGGATGGCAG	0.502000													34	75					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464364	5464364	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:5464364G>A	ENST00000296564.7	+	13	5139	c.4917G>A	c.(4915-4917)ctG>ctA	p.L1639L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1639	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTGCTCCTCTGATAGCTACAC	0.522000													15	232					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4011183	4011183	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:4011183C>A	ENST00000404826.2	+	12	1939	c.1800C>A	c.(1798-1800)gaC>gaA	p.D600E	SDK1_ENST00000389531.3_Missense_Mutation_p.D600E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	600	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCACACATGACCCCCGGGTTT	0.512000													4	36					0.150653	0.151046	1	1	0
GRHL3	57822	broad.mit.edu	37	1	24664266	24664266	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:24664266C>A	ENST00000361548.4	+	6	1057	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	GRHL3_ENST00000356046.2_Missense_Mutation_p.S230Y|GRHL3_ENST00000350501.5_Missense_Mutation_p.S276Y|GRHL3_ENST00000236255.4_Missense_Mutation_p.S281Y|GRHL3_ENST00000342072.4_Missense_Mutation_p.S183Y	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	276					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GCCTTGTCCTCCAACAAAGTC	0.592000													18	57					1.67942e-08	2.09248e-08	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34190286	34190286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:34190286G>T	ENST00000373381.4	-	18	2891	c.2715C>A	c.(2713-2715)gaC>gaA	p.D905E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	865	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGACAGTGGTCTGACTGCA	0.527000													5	63					0.00116845	0.00123247	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50686846	50686846	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:50686846G>A	ENST00000008391.3	+	3	809	c.581G>A	c.(580-582)gGt>gAt	p.G194D	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	194							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AATGGCCAAGGTGGAGTGATA	0.393000													9	48					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34400279	34400279	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:34400279G>C	ENST00000374789.3	-	25	4214	c.3889C>G	c.(3889-3891)Cag>Gag	p.Q1297E	PARD3_ENST00000545693.1_Missense_Mutation_p.Q1281E|PARD3_ENST00000346874.4_Missense_Mutation_p.Q1260E|PARD3_ENST00000374790.3_Missense_Mutation_p.Q1237E|PARD3_ENST00000545260.1_Missense_Mutation_p.Q1207E|PARD3_ENST00000374794.3_Missense_Mutation_p.Q1185E|PARD3_ENST00000374788.3_Missense_Mutation_p.Q1294E|PARD3_ENST00000350537.4_Missense_Mutation_p.Q1251E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1297					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTCTTCATCTGCTGCTCCTTC	0.602000													25	86					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642956	1642956	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:1642956G>T	ENST00000399682.1	-	1	412	c.368C>A	c.(367-369)tCc>tAc	p.S123Y		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	123	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCACAGGAGCCACAGCC	0.662000													20	88					4.26978e-12	5.80871e-12	1	1	0
ZNF614	80110	broad.mit.edu	37	19	52519340	52519340	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:52519340A>T	ENST00000270649.6	-	5	2055	c.1511T>A	c.(1510-1512)aTt>aAt	p.I504N	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCCTGTGTGAATTCTCTGATG	0.418000													15	210					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766144	77766144	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:77766144G>A	ENST00000521891.2	+	10	7435	c.6987G>A	c.(6985-6987)acG>acA	p.T2329T	ZFHX4_ENST00000455469.2_Silent_p.T2284T|ZFHX4_ENST00000518282.1_Silent_p.T2303T|ZFHX4_ENST00000050961.6_Silent_p.T2284T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2284						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGATTACGCATCAGAAAA	0.418000										HNSCC(33;0.089)			13	334					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133428310	133428310	+	Silent	SNP	G	G	A	rs141349945	byFrequency	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:133428310G>A	ENST00000266880.7	-	13	1482	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	CHFR_ENST00000315585.7_Silent_p.Y433Y|CHFR_ENST00000443047.2_Silent_p.Y382Y|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Silent_p.Y474Y|CHFR_ENST00000450056.2_Silent_p.Y462Y|CHFR_ENST00000537522.1_Silent_p.Y96Y			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	474					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GAGGGCACACGTAATCCTGGA	0.662000													14	95					0	0	1	0	0
TFDP2	7029	broad.mit.edu	37	3	141692893	141692893	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:141692893C>A	ENST00000499676.2	-	8	1151	c.480G>T	c.(478-480)ctG>ctT	p.L160L	TFDP2_ENST00000397991.4_Silent_p.L192L|TFDP2_ENST00000486111.1_Silent_p.L160L|TFDP2_ENST00000479040.1_Silent_p.L159L|TFDP2_ENST00000477292.1_Silent_p.L84L|TFDP2_ENST00000467072.1_Silent_p.L160L|TFDP2_ENST00000495310.1_Silent_p.L123L|TFDP2_ENST00000489671.1_Silent_p.L220L|TFDP2_ENST00000310282.6_Silent_p.L160L|TFDP2_ENST00000317104.7_Silent_p.L144L	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	220					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CACTTACCTCCAGATTCTGAC	0.303000													16	121					2.35188e-11	3.15496e-11	1	1	0
IGFBP7	3490	broad.mit.edu	37	4	57906997	57906997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:57906997C>T	ENST00000295666.4	-	2	611	c.578G>A	c.(577-579)tGg>tAg	p.W193*	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Nonsense_Mutation_p.W193*	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	193	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACCTTGTTCCAGATGAGGAC	0.512000													8	38					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183699692	183699692	+	Splice_Site	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:183699692G>A	ENST00000295113.4	-	6	1471	c.861_splice	c.e6-1	p.R288_splice		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	288	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			ATATCCCAGCGCTGTGAAATT	0.428000													19	96					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358479	112358479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:112358479G>T	ENST00000206423.3	-	2	1227	c.274C>A	c.(274-276)Cca>Aca	p.P92T	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.P92T	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	92										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GAGCGGGCTGGCGGCTCTGTT	0.607000													38	124					9.85521e-28	1.64968e-27	1	1	0
IRX6	79190	broad.mit.edu	37	16	55361260	55361260	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:55361260C>A	ENST00000290552.7	+	3	1688	c.356C>A	c.(355-357)gCa>gAa	p.A119E	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TCCAGCCTGGCACAACCAGGA	0.512000													7	63					5.18039e-06	5.93587e-06	1	1	0
UBAP2L	9898	broad.mit.edu	37	1	154226440	154226440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:154226440C>T	ENST00000428931.1	+	15	1896	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.Q588*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.Q577*|UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.Q577*	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	577					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGGCCCAATTCAGTCGACAAC	0.463000													16	98					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135351	126135351	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:126135351G>T	ENST00000299308.3	+	7	1759	c.1751G>T	c.(1750-1752)gGg>gTg	p.G584V	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G96V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	584						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTGACTTAGGGCAGCTGACC	0.577000													9	68					0.000442599	0.000473335	1	1	0
C6orf106	64771	broad.mit.edu	37	6	34574444	34574444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:34574444C>T	ENST00000374023.3	-	4	992	c.749G>A	c.(748-750)tGg>tAg	p.W250*	C6orf106_ENST00000374021.1_Nonsense_Mutation_p.W176*|C6orf106_ENST00000374026.3_Nonsense_Mutation_p.W184*	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	250										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AGCAGGAGCCCATGTGTCAGG	0.483000													23	81					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40349073	40349073	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:40349073C>T	ENST00000316891.5	-	1	105	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	TRIT1_ENST00000441669.2_Missense_Mutation_p.A31T|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000544981.1_Missense_Mutation_p.A31T|TRIT1_ENST00000541099.1_5'UTR|TRIT1_ENST00000372818.1_Missense_Mutation_p.A31T|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	31					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGCCCGTGGCCCCGAGAATC	0.657000													3	28					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791230	50791230	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:50791230C>A	ENST00000263046.4	+	3	385	c.219C>A	c.(217-219)gaC>gaA	p.D73E	TFAP2B_ENST00000393655.3_Missense_Mutation_p.D64E|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	64	Gln/Pro-rich (transactivation domain).		P -> R (in CHAR).		nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGTCGTCGGACTTCCAGCCGC	0.687000													8	48					0.00307968	0.00321758	1	1	0
MTMR10	54893	broad.mit.edu	37	15	31266646	31266646	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:31266646C>G	ENST00000435680.1	-	5	442	c.345G>C	c.(343-345)aaG>aaC	p.K115N	MTMR10_ENST00000563714.1_Missense_Mutation_p.K33N|MTMR10_ENST00000425768.1_Missense_Mutation_p.K115N	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	115							phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TCTGCTTCCTCTTGTGGTCGT	0.299000													8	42					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103468781	103468781	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr13:103468781A>C	ENST00000602836.1	+	2	396	c.396A>C	c.(394-396)caA>caC	p.Q132H	BIVM_ENST00000419638.1_Missense_Mutation_p.N161T|BIVM_ENST00000257336.1_Missense_Mutation_p.N161T|BIVM_ENST00000448849.2_5'UTR	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										ATTCTAGGCAATGCAAAGAAA	0.323000													7	65					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116371756	116371756	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:116371756G>A	ENST00000397752.3	+	3	1435	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	MET_ENST00000318493.6_Missense_Mutation_p.R412H|MET_ENST00000436117.2_Missense_Mutation_p.R412H|MET_ENST00000495962.1_3'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	412	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGTGAAGCGCGCCGTGATGAA	0.418000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				6	112					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96047361	96047361	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:96047361C>T	ENST00000295225.5	+	6	600	c.465C>T	c.(463-465)ctC>ctT	p.L155L	KCNIP3_ENST00000360990.3_Silent_p.L133L|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.L129L	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	155	EF-hand 2.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGGTTGGCCTCTCCATCCTGC	0.522000													9	49					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509092	106509092	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:106509092G>T	ENST00000359195.3	+	2	1396	c.1086G>T	c.(1084-1086)agG>agT	p.R362S	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R362S|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R362S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	362					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCAAGTTCAGGGTCAAGATCA	0.567000													24	130					7.92952e-12	1.07495e-11	1	1	0
USP26	83844	broad.mit.edu	37	X	132161322	132161322	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:132161322C>T	ENST00000511190.1	-	6	1396	c.927G>A	c.(925-927)gtG>gtA	p.V309V	USP26_ENST00000406273.1_Silent_p.V309V|USP26_ENST00000370832.1_Silent_p.V309V	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	309					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GAGACTGTAACACTGCATTCA	0.378000													21	87					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106935	168106935	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:168106935A>T	ENST00000409195.1	+	9	9122	c.9033A>T	c.(9031-9033)gaA>gaT	p.E3011D	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3011D|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2789D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2836					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAAGAAGAAATAACACATA	0.343000													32	128					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594530	11594530	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:11594530G>T	ENST00000294484.6	+	18	3606	c.3468G>T	c.(3466-3468)gaG>gaT	p.E1156D	PTCHD2_ENST00000304391.6_Missense_Mutation_p.G43W|PTCHD2_ENST00000389575.3_Missense_Mutation_p.E1156D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1156					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTTGCCCGAGGGCTCAGTCC	0.627000													7	48					0.000442599	0.000473335	1	1	0
EDA2R	60401	broad.mit.edu	37	X	65819693	65819693	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:65819693A>T	ENST00000374719.3	-	6	583	c.527T>A	c.(526-528)cTg>cAg	p.L176Q	EDA2R_ENST00000396050.1_Missense_Mutation_p.L176Q|EDA2R_ENST00000253392.5_Missense_Mutation_p.L197Q|EDA2R_ENST00000456230.2_Missense_Mutation_p.L176Q|EDA2R_ENST00000450752.1_Missense_Mutation_p.L197Q|EDA2R_ENST00000451436.2_Missense_Mutation_p.L52Q	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	176					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CTCAAACTGCAGCAAACCTCC	0.522000													5	11					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938889	2938889	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:2938889G>A	ENST00000378404.2	+	1	844	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	213						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGGGTCTCGTGGACGACATCA	0.642000													18	54					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141283881	141283881	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:141283881C>A	ENST00000389484.3	-	48	8772	c.7801G>T	c.(7801-7803)Ggg>Tgg	p.G2601W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2601	LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATACAAGTCCCATCTGCACAG	0.418000										TSP Lung(27;0.18)			8	85					0.00307968	0.00321758	1	1	0
DDX59	83479	broad.mit.edu	37	1	200613583	200613583	+	Silent	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:200613583T>A	ENST00000331314.6	-	8	1872	c.1659A>T	c.(1657-1659)tcA>tcT	p.S553S	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	553	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AGAGTCTTTTTGAATTATTAT	0.363000													32	128					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615363	158615363	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:158615363A>T	ENST00000368148.3	-	28	4098	c.3918T>A	c.(3916-3918)agT>agA	p.S1306R	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1306R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1306					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)					CACCAATGCTACTGATCCAGT	0.438000													83	158					0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140012311	140012311	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:140012311G>T	ENST00000302014.6	-	2	887	c.258C>A	c.(256-258)gtC>gtA	p.V86V	CD14_ENST00000401743.2_Silent_p.V86V	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	86					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAGCCTTGACCGTGTCAG	0.647000													11	41					4.68919e-08	5.79563e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179458185	179458185	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:179458185C>G	ENST00000589042.1	-	299	58974	c.58750G>C	c.(58750-58752)Gat>Cat	p.D19584H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D17943H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10519H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17016H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10711H|TTN_ENST00000359218.5_Missense_Mutation_p.D10644H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17943	Ig-like 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGGCTGATCAGGTGCATCA	0.353000													11	68					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66878832	66878832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:66878832G>A	ENST00000269080.2	-	28	3753	c.3616C>T	c.(3616-3618)Caa>Taa	p.Q1206*	ABCA8_ENST00000586539.1_Nonsense_Mutation_p.Q1246*|ABCA8_ENST00000430352.2_Nonsense_Mutation_p.Q1246*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1206						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCTGGATTTTGACACACATCA	0.343000													6	125					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71007820	71007820	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:71007820C>A	ENST00000393567.2	-	34	5291	c.5141G>T	c.(5140-5142)gGa>gTa	p.G1714V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1714										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGGCACTGTCCACACTGAAT	0.488000													7	203					1.12685e-05	1.27787e-05	1	1	0
RGS8	85397	broad.mit.edu	37	1	182617329	182617329	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:182617329C>A	ENST00000483095.2	-	6	560	c.303G>T	c.(301-303)ctG>ctT	p.L101L	RGS8_ENST00000258302.4_Silent_p.L119L|RGS8_ENST00000367557.4_Silent_p.L101L|RGS8_ENST00000367556.1_Silent_p.L101L			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	101	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CCTTAGAGACCAGTTTTGCAG	0.532000													67	285					4.10029e-35	7.00049e-35	1	1	0
C7orf10	79783	broad.mit.edu	37	7	40277289	40277289	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:40277289G>T	ENST00000309930.5	+	7	585	c.561G>T	c.(559-561)tcG>tcT	p.S187S	C7orf10_ENST00000335693.4_Silent_p.S187S|C7orf10_ENST00000401647.2_Silent_p.S187S	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	187							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CTGTTGCCTCGGCTGTTTCTG	0.428000													24	69					7.92952e-12	1.07495e-11	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413182	105413182	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:105413182T>A	ENST00000333244.5	-	7	8725	c.8606A>T	c.(8605-8607)cAa>cTa	p.Q2869L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2869						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GACCTCCAGTTGGGCGGAGGG	0.632000													62	180					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22360105	22360105	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:22360105T>G	ENST00000263160.3	+	1	463	c.26T>G	c.(25-27)tTg>tGg	p.L9W		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	9					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAAAGGATTTTGGCCCCAGGA	0.443000													14	95					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648375	11648375	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:11648375C>A	ENST00000262442.3	+	31	6441	c.6373C>A	c.(6373-6375)Cag>Aag	p.Q2125K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2125K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2125	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGAAGCTCCAGGCTGAGGA	0.517000													22	80					3.6726e-16	5.42784e-16	1	1	0
AZIN1	51582	broad.mit.edu	37	8	103845432	103845432	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:103845432G>A	ENST00000337198.5	-	9	1919	c.756C>T	c.(754-756)atC>atT	p.I252I	AZIN1_ENST00000347770.4_Silent_p.I252I	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	252					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			ACAGAGGGCTGATAACATGAT	0.343000													16	134					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2924702	2924702	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:2924702C>A	ENST00000381130.2	+	1	49	c.49C>A	c.(49-51)Ctt>Att	p.L17I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	17						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGCAGATGACCTTGGAGTGGG	0.507000													18	91					1.50039e-11	2.01976e-11	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767000	77767000	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:77767000G>A	ENST00000521891.2	+	10	8291	c.7843G>A	c.(7843-7845)Gaa>Aaa	p.E2615K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2570K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2589K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2570K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2570						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATCACCCCGGAACAGCTGGA	0.428000										HNSCC(33;0.089)			39	65					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249818	61249818	+	Missense_Mutation	SNP	G	G	A	rs143171724	byFrequency	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:61249818G>A	ENST00000338608.2	+	3	270	c.145G>A	c.(145-147)Gta>Ata	p.V49I	RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.V49I	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	49																	GGGCAGTCACGTAGGCACCGG	0.612000											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	54					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847565	123847565	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:123847565G>T	ENST00000531945.1	-	1	923	c.834C>A	c.(832-834)tcC>tcA	p.S278S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		CTGCCTCACTGGAGCGAGGCT	0.592000													25	180					7.07758e-08	8.66413e-08	1	1	0
ELOVL7	79993	broad.mit.edu	37	5	60063713	60063713	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:60063713C>A	ENST00000505959.1	-	7	760	c.234G>T	c.(232-234)tgG>tgT	p.W78C	ELOVL7_ENST00000438340.1_Missense_Mutation_p.W91C|ELOVL7_ENST00000508821.1_Missense_Mutation_p.W91C|ELOVL7_ENST00000425382.1_Missense_Mutation_p.W91C			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	91					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AACCTATACCCCAGCCAGACA	0.393000													18	108					1.56452e-12	2.15122e-12	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416596	105416596	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:105416596A>T	ENST00000333244.5	-	7	5311	c.5192T>A	c.(5191-5193)cTt>cAt	p.L1731H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1731						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCTCGGGAAGGGGGCCCTC	0.632000													10	257					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377622	77377622	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:77377622G>T	ENST00000451710.3	-	26	4202	c.3965C>A	c.(3964-3966)aCa>aAa	p.T1322K	TRPM6_ENST00000449912.2_Missense_Mutation_p.T1317K|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1322K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1317K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.T1322K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1322					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						ACTACTTTGTGTTTCTTGCCT	0.473000													74	226					3.54697e-40	6.13745e-40	1	1	0
SLC35G3	146861	broad.mit.edu	37	17	33521101	33521101	+	Silent	SNP	G	G	T	rs139668128	byFrequency	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:33521101G>T	ENST00000297307.5	-	1	311	c.226C>A	c.(226-228)Cga>Aga	p.R76R		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	76	DUF6 1.					integral to membrane		p.R76*(1)									AAGAGGCATCGCCAGATGAGC	0.632000													44	232					2.68985e-26	4.4446e-26	1	1	0
DNAJC21	134218	broad.mit.edu	37	5	34929952	34929952	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:34929952G>C	ENST00000382021.2	+	1	255	c.28G>C	c.(28-30)Gtg>Ctg	p.V10L	DNAJC21_ENST00000303525.7_Missense_Mutation_p.V10L|DNAJC21_ENST00000342382.4_Missense_Mutation_p.V10L	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	10	J.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GGCGCTGGGGGTGCGGCGCGA	0.751000													7	15					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089090	86089090	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:86089090G>T	ENST00000330753.4	+	2	1999	c.1232G>T	c.(1231-1233)tGg>tTg	p.W411L	FLRT2_ENST00000554746.1_Missense_Mutation_p.W411L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	411					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATTCCTGACTGGGATGGCAGA	0.507000													33	74					1.36161e-19	2.10954e-19	1	1	0
POTEG	404785	broad.mit.edu	37	14	19553637	19553637	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:19553637G>T	ENST00000409832.3	+	1	273	c.221G>T	c.(220-222)gGg>gTg	p.G74V		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	74										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGTGCAGGGGGAGCAGCAAG	0.587000													93	481					7.28744e-38	1.25814e-37	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20432667	20432667	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:20432667C>A	ENST00000331849.4	+	5	858	c.711C>A	c.(709-711)ccC>ccA	p.P237P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	237					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCGGGGCCCCCAAGATGGTCG	0.557000													11	47					3.07112e-06	3.54537e-06	1	1	0
SLITRK4	139065	broad.mit.edu	37	X	142717435	142717435	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:142717435G>A	ENST00000381779.4	-	2	1715	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	SLITRK4_ENST00000338017.4_Missense_Mutation_p.P497L|SLITRK4_ENST00000356928.1_Missense_Mutation_p.P497L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	497						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCTAGCTAAGGGTGCTCCGGA	0.453000													62	158					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149771736	149771736	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:149771736C>T	ENST00000451292.1	+	22	3733	c.3625C>T	c.(3625-3627)Ctg>Ttg	p.L1209L	TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000504761.2_Silent_p.L1172L|TCOF1_ENST00000439160.2_Silent_p.L1134L|TCOF1_ENST00000445265.2_Silent_p.L1095L|TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000513346.1_Silent_p.L1171L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1172					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCACACGCTGGGTGAGGG	0.612000													4	38					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187593	37187593	+	RNA	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:37187593G>C	ENST00000425901.2	+	0	1435					NR_033753.2																						CCATTCAGGAGACCCCAACTT	0.498000													57	106					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496403	24496403	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:24496403G>A	ENST00000284224.8	-	6	1429	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.I384I|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	384					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTGGAGCACCGATCATCTGTA	0.393000													26	261					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19954930	19954930	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:19954930G>T	ENST00000396085.1	+	7	1501	c.1140G>T	c.(1138-1140)ggG>ggT	p.G380G	NAV2_ENST00000349880.4_Silent_p.G380G|NAV2_ENST00000396087.3_Silent_p.G403G|NAV2_ENST00000540292.1_Silent_p.G334G|NAV2_ENST00000527559.2_Silent_p.G332G|NAV2_ENST00000360655.4_Silent_p.G316G	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	403						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCCTCCTGGGCCTGAGGCCC	0.602000													56	167					1.95512e-22	3.13634e-22	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27476021	27476021	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:27476021T>G	ENST00000356183.4	-	34	5507	c.5492A>C	c.(5491-5493)gAc>gCc	p.D1831A	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1831A	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1831						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGCCTGGGGGTCTTCTCTCTG	0.682000													17	63					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057630	56057630	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:56057630G>T	ENST00000313022.2	-	1	936	c.909C>A	c.(907-909)gtC>gtA	p.V303V		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTCTCTGCATGACTCTAATGA	0.348000													43	190					3.4345e-17	5.18542e-17	1	1	0
HK2	3099	broad.mit.edu	37	2	75104414	75104414	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:75104414C>T	ENST00000290573.2	+	8	1597	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	HK2_ENST00000409174.1_Missense_Mutation_p.R305C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	333	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAACACCGGTCGCTTTGAGAC	0.552000													20	228					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24576715	24576715	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:24576715T>A	ENST00000535378.1	-	11	2230	c.1588A>T	c.(1588-1590)Ata>Tta	p.I530L	KIAA0319_ENST00000430948.2_Missense_Mutation_p.I494L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.I539L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.I539L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.I539L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	539	PKD 3.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGCAAAGTTATGGTGTGATTT	0.502000													101	421					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109784516	109784516	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:109784516C>T	ENST00000399132.1	-	21	1641	c.1111G>A	c.(1111-1113)Gga>Aga	p.G371R	COL25A1_ENST00000399127.1_Missense_Mutation_p.G367R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G371R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	371						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCACCTCTTCCAGGAGGCCCT	0.493000													5	58					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156616747	156616747	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:156616747G>T	ENST00000329117.4	+	3	582	c.246G>T	c.(244-246)ctG>ctT	p.L82L	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.L82L	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	82	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGACTTTCCTGTCCCGGGGCC	0.716000													6	30					0.0215528	0.0218651	1	1	0
PTGFR	5737	broad.mit.edu	37	1	78959189	78959189	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:78959189T>C	ENST00000370756.3	+	2	998	c.761T>C	c.(760-762)aTa>aCa	p.I254T	PTGFR_ENST00000370757.3_Missense_Mutation_p.I254T|PTGFR_ENST00000370758.1_Missense_Mutation_p.I254T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	254					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CTCCTGGCGATAATGTGTGTC	0.398000													19	72					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196646761	196646761	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:196646761G>T	ENST00000367429.4	+	5	823	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	CFH_ENST00000359637.2_Intron|CFH_ENST00000439155.2_Missense_Mutation_p.D195Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	195	Sushi 3.				complement activation, alternative pathway	extracellular space		p.D195H(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGTTCAGACGATGGTTTTTG	0.343000													55	171					3.84483e-29	6.47817e-29	1	1	0
SLC17A7	57030	broad.mit.edu	37	19	49939900	49939900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:49939900C>A	ENST00000221485.3	-	2	392	c.221G>T	c.(220-222)tGc>tTc	p.C74F	SLC17A7_ENST00000600601.1_Missense_Mutation_p.C7F|SLC17A7_ENST00000543531.1_Missense_Mutation_p.C62F	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	74					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		AAAGCTGATGCAGAAGCCCAG	0.647000													21	72					9.57634e-11	1.2648e-10	1	1	0
RASSF7	8045	broad.mit.edu	37	11	561835	561835	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:561835G>T	ENST00000397583.3	+	2	500	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	RASSF7_ENST00000397582.3_Missense_Mutation_p.G23W|RASSF7_ENST00000344375.4_Missense_Mutation_p.G23W|RASSF7_ENST00000454668.2_Missense_Mutation_p.G23W|RASSF7_ENST00000431809.1_Missense_Mutation_p.G23W|RASSF7_ENST00000524468.1_Intron	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	23	Ras-associating.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGTCTGTGGGGTCTCAGA	0.637000													8	48					0.000157383	0.000170924	1	1	0
TRAF2	7186	broad.mit.edu	37	9	139793300	139793300	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:139793300C>A	ENST00000359662.3	+	2	153	c.108C>A	c.(106-108)gcC>gcA	p.A36A	TRAF2_ENST00000247668.2_Silent_p.A36A|TRAF2_ENST00000536468.1_Silent_p.A36A			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	36					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGTGCTCCGCCTGCAGAAACG	0.657000													9	43					0.000274275	0.000295373	1	1	0
CYGB	114757	broad.mit.edu	37	17	74533529	74533529	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:74533529G>T	ENST00000293230.5	-	1	458	c.96C>A	c.(94-96)gcC>gcA	p.A32A	CYGB_ENST00000589342.1_Silent_p.A32A|CYGB_ENST00000589145.1_Intron|PRCD_ENST00000592432.1_Intron	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	32	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						CATAGAGCCGGGCCCACATAG	0.701000													8	31					0.0477658	0.0481409	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1271043	1271043	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:1271043G>A	ENST00000447027.1	+	31	13000	c.12942G>A	c.(12940-12942)ctG>ctA	p.L4314L	MUC5B_ENST00000529681.1_Silent_p.L4311L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4311	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTCCAGTGCTGACAAGCACAG	0.617000													7	160					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89499364	89499364	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:89499364C>A	ENST00000336596.2	+	15	2759	c.2534C>A	c.(2533-2535)cCc>cAc	p.P845H	EPHA3_ENST00000494014.1_Missense_Mutation_p.P845H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	845	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGACTGCCACCCCCCATGGAC	0.473000										TSP Lung(6;0.00050)			7	77					3.09899e-07	3.69956e-07	1	1	0
OR6B1	135946	broad.mit.edu	37	7	143701373	143701373	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:143701373C>A	ENST00000408922.2	+	1	352	c.284C>A	c.(283-285)aCa>aAa	p.T95K		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATCTCTTTCACACTCTGTATG	0.483000													47	191					1.81118e-26	2.99916e-26	1	1	0
MFSD11	79157	broad.mit.edu	37	17	74772621	74772621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:74772621C>T	ENST00000588460.1	+	12	3225	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	MFSD11_ENST00000586622.1_Nonsense_Mutation_p.Q395*|MFSD11_ENST00000355954.3_Nonsense_Mutation_p.Q343*|MFSD11_ENST00000336509.4_Nonsense_Mutation_p.Q395*|MFSD11_ENST00000590514.1_Nonsense_Mutation_p.Q395*|MFSD11_ENST00000593181.1_Nonsense_Mutation_p.Q343*|MFSD11_ENST00000590070.1_3'UTR	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	395						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAAGTTTGTTCAGGTAACCTC	0.423000													33	163					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607149	21607149	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:21607149A>G	ENST00000392288.2	+	4	1797	c.1688A>G	c.(1687-1689)cAt>cGt	p.H563R	ZNF493_ENST00000355504.4_Missense_Mutation_p.H435R|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTTACTACACATAAGAGAATT	0.353000													5	97					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202347	248202347	+	Missense_Mutation	SNP	C	C	A	rs143360089		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:248202347C>A	ENST00000366479.2	+	1	874	c.778C>A	c.(778-780)Cgt>Agt	p.R260S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TACCTATGTACGTCCAAGATC	0.493000													30	192					1.50538e-07	1.81684e-07	1	1	0
C6orf10	10665	broad.mit.edu	37	6	32261340	32261340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:32261340C>A	ENST00000375015.4	-	26	1307	c.1107G>T	c.(1105-1107)aaG>aaT	p.K369N	C6orf10_ENST00000447241.2_Missense_Mutation_p.K370N|C6orf10_ENST00000442822.2_Missense_Mutation_p.K361N|C6orf10_ENST00000375007.4_Missense_Mutation_p.K368N|C6orf10_ENST00000527965.1_Missense_Mutation_p.K354N|C6orf10_ENST00000533191.1_Missense_Mutation_p.K368N			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	370						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCATCTCACTCTTCTCTACCT	0.488000													53	266					7.77372e-23	1.26016e-22	1	1	0
PRAME	23532	broad.mit.edu	37	22	22890891	22890891	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr22:22890891G>A	ENST00000543184.1	-	5	1990	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	PRAME_ENST00000405655.3_Silent_p.A376A|PRAME_ENST00000398741.1_Silent_p.A376A|PRAME_ENST00000539862.1_Silent_p.A360A|PRAME_ENST00000402697.1_Silent_p.A376A|PRAME_ENST00000398743.2_Silent_p.A376A|PRAME_ENST00000424204.2_Silent_p.A360A	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	376					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGGTGGCAGAGGCTCTCTCCA	0.587000													27	132					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570230	53570230	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:53570230T>A	ENST00000025008.5	-	15	2682	c.2159A>T	c.(2158-2160)gAc>gTc	p.D720V	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D720V|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D720V	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	720					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGAATCCAAGTCTAAAGAAAC	0.333000													20	100					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235950500	235950500	+	Splice_Site	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:235950500C>A	ENST00000389794.3	-	14	5036	c.4862_splice	c.e14+1	p.R1621_splice	LYST_ENST00000389793.2_Splice_Site_p.R1621_splice|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1621					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTTCCTACCTCTGTCCAGA	0.398000													31	157					3.1745e-13	4.46052e-13	1	1	0
THEG	51298	broad.mit.edu	37	19	362233	362233	+	Silent	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:362233T>C	ENST00000342640.4	-	8	1149	c.1107A>G	c.(1105-1107)ccA>ccG	p.P369P	THEG_ENST00000346878.2_Silent_p.P345P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	369					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACACTTTTCTGGTGATGCTT	0.552000													29	112					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123994449	123994449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:123994449G>T	ENST00000456829.2	+	10	1353	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	VWA5A_ENST00000392748.1_Nonsense_Mutation_p.E368*|VWA5A_ENST00000360334.4_Nonsense_Mutation_p.E368*|VWA5A_ENST00000392744.4_Nonsense_Mutation_p.E384*|VWA5A_ENST00000449321.1_Nonsense_Mutation_p.E368*|VWA5A_ENST00000361352.5_Nonsense_Mutation_p.E368*	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	368	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGGGGGCACTGAAATCTTGGC	0.522000													5	66					1.23904e-05	1.39483e-05	1	1	0
GUCY2D	3000	broad.mit.edu	37	17	7919269	7919269	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:7919269G>C	ENST00000254854.4	+	17	3218	c.3068G>C	c.(3067-3069)aGc>aCc	p.S1023T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1023					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GTGAACTTGAGCACTGTGGGG	0.682000													3	9					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55050192	55050192	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:55050192G>C	ENST00000330807.5	-	4	550	c.413C>G	c.(412-414)cCt>cGt	p.P138R	ALAS2_ENST00000396198.3_Intron|ALAS2_ENST00000335854.4_Intron	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	138					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AAACTCACCAGGCATATTGTT	0.532000													3	23					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													7	94					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149524884	149524884	+	RNA	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:149524884A>T	ENST00000378016.2	+	0	14795							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACGTGGCAGCAGGTGGCCCCG	0.642000													5	21					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90149268	90149268	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:90149268C>A	ENST00000405460.2	+	80	17468	c.17372C>A	c.(17371-17373)aCa>aAa	p.T5791K	GPR98_ENST00000425867.2_Missense_Mutation_p.T1452K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5791					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGGAAAAGTACATGTAAATTA	0.373000													8	47					1.06961e-07	1.30317e-07	1	1	0
MBLAC1	255374	broad.mit.edu	37	7	99725205	99725205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:99725205C>A	ENST00000398075.2	+	2	586	c.187C>A	c.(187-189)Cgc>Agc	p.R63S		NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	63							hydrolase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						AGAGTCCCCGCGCGGGAGTGG	0.786000													4	2					0.184627	0.184627	1	1	0
NLRP11	204801	broad.mit.edu	37	19	56313043	56313043	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:56313043C>T	ENST00000443188.1	-	7	2776	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	NLRP11_ENST00000360133.3_Missense_Mutation_p.R635Q|NLRP11_ENST00000589093.1_Missense_Mutation_p.R689Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.R590Q|NLRP11_ENST00000589824.2_Missense_Mutation_p.R635Q	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	689							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGTCAGGCTCCGATTACGAGC	0.448000													28	65					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111731269	111731269	+	Splice_Site	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:111731269C>A	ENST00000524880.1	-	9	1558		c.e9+1		ALG9_ENST00000398006.2_Splice_Site|ALG9_ENST00000527228.1_Splice_Site|ALG9_ENST00000531154.1_Splice_Site			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTTTTACTTACCTGATGATGA	0.458000													11	47					1.08611e-07	1.31701e-07	1	1	0
HYAL4	23553	broad.mit.edu	37	7	123514855	123514855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:123514855G>T	ENST00000223026.4	+	4	1633	c.995G>T	c.(994-996)gGa>gTa	p.G332V	HYAL4_ENST00000476325.1_Missense_Mutation_p.G332V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	332					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GCTGCCTTGGGAGCTGCAGGC	0.373000													12	57					1.52009e-12	2.09762e-12	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94055338	94055338	+	Missense_Mutation	SNP	G	G	A	rs72659316		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:94055338G>A	ENST00000297268.6	+	45	3443	c.2972G>A	c.(2971-2973)gGt>gAt	p.G991D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	991			G -> V (in OI3).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCCTGCTGGTGCTGTTGGC	0.453000										HNSCC(75;0.22)			21	85					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237880564	237880564	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:237880564T>A	ENST00000366574.2	+	72	10707	c.10390T>A	c.(10390-10392)Tct>Act	p.S3464T	RYR2_ENST00000542537.1_Missense_Mutation_p.S3448T|RYR2_ENST00000360064.6_Missense_Mutation_p.S3462T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3464					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			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)			CATGCAGACCTCTCTGATTGT	0.493000													8	40					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372484	175372484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:175372484G>T	ENST00000367674.1	-	4	1476	c.768C>A	c.(766-768)taC>taA	p.Y256*	TNR_ENST00000263525.2_Nonsense_Mutation_p.Y256*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	256	Cys-rich.|EGF-like 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTCGCCAGTGTAGGGCTCTT	0.627000													18	63					1.02788e-11	1.39098e-11	1	1	0
TLL1	7092	broad.mit.edu	37	4	166946540	166946540	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:166946540A>G	ENST00000061240.2	+	9	1762	c.1115A>G	c.(1114-1116)tAc>tGc	p.Y372C	TLL1_ENST00000513213.1_Missense_Mutation_p.Y372C|TLL1_ENST00000507499.1_Missense_Mutation_p.Y372C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	372	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TACCCTTCTTACACACACTGC	0.398000													37	110					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43579653	43579653	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:43579653G>A	ENST00000452443.2	-	6	694	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	230					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CGTTGCTGTTGATCTGCAGAG	0.592000													21	63					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70497656	70497656	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:70497656G>A	ENST00000288078.6	+	3	445	c.213G>A	c.(211-213)ctG>ctA	p.L71L	FUK_ENST00000378912.2_Silent_p.L71L|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.L71L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	71						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTGAACACCTGAGTGCCCGGG	0.642000													4	22					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997352	144997352	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr8:144997352C>G	ENST00000322810.4	-	31	7325	c.7156G>C	c.(7156-7158)Gct>Cct	p.A2386P	PLEC_ENST00000345136.3_Missense_Mutation_p.A2249P|PLEC_ENST00000436759.2_Missense_Mutation_p.A2276P|PLEC_ENST00000527096.1_Missense_Mutation_p.A2272P|PLEC_ENST00000398774.2_Missense_Mutation_p.A2217P|PLEC_ENST00000357649.2_Missense_Mutation_p.A2253P|PLEC_ENST00000354958.2_Missense_Mutation_p.A2227P|PLEC_ENST00000356346.3_Missense_Mutation_p.A2235P|PLEC_ENST00000354589.3_Missense_Mutation_p.A2249P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2386	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTTCTCAGCCTCGATGCGT	0.652000													17	38					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113610085	113610085	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:113610085G>C	ENST00000200135.3	-	12	1747	c.1603C>G	c.(1603-1605)Ccc>Gcc	p.P535A		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	535					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCCAACTGGGGAAGTTTTTGA	0.473000													17	98					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118942386	118942386	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:118942386T>A	ENST00000300793.6	+	6	756	c.714T>A	c.(712-714)agT>agA	p.S238R	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	239					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CAGCCCTAAGTGACCCTTCTC	0.552000													14	62					0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59982963	59982963	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:59982963G>A	ENST00000265036.5	-	2	207	c.140C>T	c.(139-141)gCc>gTc	p.A47V	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.A20V|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.A47V	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	47	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CACAGCTTCGGCCGCTGTGAA	0.507000													14	159					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95574290	95574290	+	Silent	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:95574290C>A	ENST00000526495.1	-	18	2868	c.2577G>T	c.(2575-2577)cgG>cgT	p.R859R	DICER1_ENST00000343455.3_Silent_p.R859R|DICER1_ENST00000541352.1_Silent_p.R859R|DICER1_ENST00000393063.1_Silent_p.R859R|DICER1_ENST00000527414.1_Silent_p.R859R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	859					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTTTTTCAAGCCGAAGAATAT	0.353000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				7	96					0.0293803	0.0296888	1	1	0
CYP21A2	1589	broad.mit.edu	37	6	32008281	32008281	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:32008281C>T	ENST00000418967.2	+	8	1196	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	CYP21A2_ENST00000435122.2_Silent_p.L316L	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	345	Steroid-binding (By similarity).			N -> I (in Ref. 10; AAA59985).	glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						TGCCCTTGCTCAATGCCACCA	0.677000													12	43					0	0	1	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31525456	31525456	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:31525456G>A	ENST00000376148.4	+	3	500	c.386G>A	c.(385-387)gGa>gAa	p.G129E	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.G129E	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	129					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						TCCGCCATGGGAATAAAGAAT	0.572000													6	56					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128026	56128026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:56128026G>T	ENST00000303039.3	+	1	336	c.304G>T	c.(304-306)Gga>Tga	p.G102*		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CACCCAACTGGGAGGGTTCTT	0.413000													29	130					9.80776e-20	1.52258e-19	1	1	0
RIOK3	8780	broad.mit.edu	37	18	21042969	21042969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr18:21042969G>T	ENST00000339486.3	+	2	722	c.105G>T	c.(103-105)ttG>ttT	p.L35F	RIOK3_ENST00000577501.1_Missense_Mutation_p.L35F|RIOK3_ENST00000581585.1_Missense_Mutation_p.L35F	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	35					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTTGTTCTTTGGCTGATGTAA	0.343000													40	115					2.26627e-22	3.62792e-22	1	1	0
DECR2	26063	broad.mit.edu	37	16	455026	455026	+	Splice_Site	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:455026T>G	ENST00000219481.5	+	2	287		c.e2+2		DECR2_ENST00000397710.1_Splice_Site|DECR2_ENST00000424398.2_Splice_Site	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal							peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TTTCATGCGGTGAGACTGCTC	0.557000													7	107					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20000071	20000071	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:20000071A>G	ENST00000395529.3	+	2	159	c.107A>G	c.(106-108)aAg>aGg	p.K36R	SPECC1_ENST00000395527.4_Missense_Mutation_p.K36R|SPECC1_ENST00000261503.5_Missense_Mutation_p.K36R|SPECC1_ENST00000472876.1_Intron	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	36						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGAGTTCTAAGTCTTCAACT	0.602000													17	134					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580413	120580413	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:120580413C>G	ENST00000300648.6	-	44	5739	c.5727G>C	c.(5725-5727)aaG>aaC	p.K1909N		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1909					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACAACAATCTTCCAGACAT	0.617000													15	68					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000196	56000196	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:56000196C>A	ENST00000313264.4	-	1	541	c.466G>T	c.(466-468)Gca>Tca	p.A156S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAAGCCATTGCAGCCAAGAGA	0.423000													56	213					2.40265e-35	4.12036e-35	1	1	0
BROX	148362	broad.mit.edu	37	1	222902980	222902980	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:222902980G>C	ENST00000340934.5	+	10	1181	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	BROX_ENST00000537020.1_Missense_Mutation_p.E259Q|BROX_ENST00000539697.1_Missense_Mutation_p.E227Q	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	259	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TTACCATGGTGAGACTTTATT	0.348000													12	46					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863631	55863631	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:55863631T>A	ENST00000388975.3	-	10	1390	c.1274A>T	c.(1273-1275)aAg>aTg	p.K425M		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	425					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTGTCTTTCTTTGTATCGGT	0.383000													30	115					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28848898	28848898	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:28848898C>T	ENST00000357727.2	+	9	1511	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L	CREB5_ENST00000409603.1_Missense_Mutation_p.P341L|CREB5_ENST00000396299.2_Missense_Mutation_p.P341L|CREB5_ENST00000396298.2_Missense_Mutation_p.P235L|CREB5_ENST00000396300.2_Missense_Mutation_p.P367L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	374					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P374L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GACGAGGATCCGGACGAGAGG	0.597000													9	94					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64468761	64468761	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr14:64468761C>T	ENST00000358025.3	+	29	3978	c.3748C>T	c.(3748-3750)Cat>Tat	p.H1250Y	SYNE2_ENST00000554584.1_Missense_Mutation_p.H1250Y|SYNE2_ENST00000344113.4_Missense_Mutation_p.H1250Y|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1250					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGGGATTTCATCTCATTGA	0.413000													11	190					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156352641	156352641	+	Silent	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:156352641T>C	ENST00000400992.2	+	8	1487	c.1119T>C	c.(1117-1119)tcT>tcC	p.S373S	RHBG_ENST00000255013.3_Silent_p.S336S|RHBG_ENST00000368246.2_Silent_p.S405S|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000368249.1_Silent_p.S405S|RHBG_ENST00000451864.2_Silent_p.S327S			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	405					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TGTTTGCCTCTGTGGGCGGGG	0.522000											OREG0013870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	118					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158451030	158451030	+	Splice_Site	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:158451030C>A	ENST00000409339.3	-	17	2173	c.2060_splice	c.e17+1	p.S687_splice	NCAPG2_ENST00000356309.3_Splice_Site_p.S687_splice|NCAPG2_ENST00000541468.1_Splice_Site_p.S188_splice|NCAPG2_ENST00000409423.1_Splice_Site_p.S687_splice|NCAPG2_ENST00000449727.2_Splice_Site_p.S687_splice|NCAPG2_ENST00000275830.10_Splice_Site_p.S479_splice			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	687					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GAGCAAATACCTGAATGGGGG	0.393000													5	28					0.00116845	0.00123247	1	1	0
P2RY8	286530	broad.mit.edu	37	X	1585188	1585188	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:1585188G>A	ENST00000381297.4	-	2	474	c.264C>T	c.(262-264)caC>caT	p.H88H		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	88						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGAATACCCAGTGGTGGCGGT	0.547000			T	CRLF2	"""B-ALL, Downs associated ALL"""								16	26					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671199	49671199	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:49671199C>A	ENST00000561648.1	-	4	1917	c.1864G>T	c.(1864-1866)Gca>Tca	p.A622S	ZNF423_ENST00000567169.1_Missense_Mutation_p.A505S|ZNF423_ENST00000563137.2_Missense_Mutation_p.A562S|ZNF423_ENST00000535559.1_Missense_Mutation_p.A505S|ZNF423_ENST00000262383.2_Missense_Mutation_p.A622S|ZNF423_ENST00000562871.1_Missense_Mutation_p.A562S|ZNF423_ENST00000562520.1_Missense_Mutation_p.A562S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	622					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGGCGCTTGCTGAGAGCCGC	0.567000													18	74					2.4624e-09	3.11337e-09	1	1	0
GRSF1	2926	broad.mit.edu	37	4	71693715	71693715	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:71693715C>A	ENST00000254799.6	-	6	1106	c.989G>T	c.(988-990)cGa>cTa	p.R330L	GRSF1_ENST00000439371.1_Missense_Mutation_p.R168L|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212L|GRSF1_ENST00000502323.1_Missense_Mutation_p.R168L	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	330					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GACATGTGTTCGAACTTCATT	0.353000													26	93					6.36457e-07	7.45924e-07	1	1	0
OR52M1	119772	broad.mit.edu	37	11	4566861	4566861	+	Silent	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:4566861G>A	ENST00000360213.1	+	1	441	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCGTTTGGGGCTTGTTTCTC	0.532000													15	53					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19520855	19520855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:19520855C>A	ENST00000507958.1	-	12	2413	c.1423G>T	c.(1423-1425)Ggt>Tgt	p.G475C	CDH18_ENST00000511273.1_Missense_Mutation_p.G475C|CDH18_ENST00000382275.1_Missense_Mutation_p.G475C|CDH18_ENST00000502796.1_Missense_Mutation_p.G475C|CDH18_ENST00000506372.1_Missense_Mutation_p.G475C|CDH18_ENST00000274170.4_Missense_Mutation_p.G475C			Q13634	CAD18_HUMAN	cadherin 18, type 2	475	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACTCTAATACCCACTGTGACA	0.383000													71	199					1.63007e-36	2.80796e-36	1	1	0
LSP1	4046	broad.mit.edu	37	11	1904770	1904770	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:1904770G>C	ENST00000406638.2	+	4	1594	c.292G>C	c.(292-294)Gct>Cct	p.A98P	LSP1_ENST00000311604.3_Missense_Mutation_p.A160P|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.A288P|LSP1_ENST00000405957.2_Missense_Mutation_p.A98P	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	160					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGCCGCAGGGGCTGAGGAGGA	0.622000													4	18					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48218926	48218926	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:48218926C>T	ENST00000302506.3	-	8	1099	c.691G>A	c.(691-693)Gag>Aag	p.E231K	CDC25A_ENST00000351231.3_Missense_Mutation_p.E191K	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	231					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGGGTCTCCTCCTCATTCTAA	0.448000													10	55					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52551014	52551014	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:52551014G>A	ENST00000321725.6	+	42	4454	c.4378G>A	c.(4378-4380)Gcc>Acc	p.A1460T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1460	EGF-like 11.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.A1460T(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGACCCCTGCGCCCACGGCCA	0.657000													10	81					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71655254	71655254	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:71655254C>T	ENST00000226328.4	+	12	1845	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	RUFY3_ENST00000536664.1_Missense_Mutation_p.R412C|RUFY3_ENST00000417478.2_Missense_Mutation_p.R488C|RUFY3_ENST00000381006.3_Missense_Mutation_p.R428C|RUFY3_ENST00000502653.1_Missense_Mutation_p.R375C	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	428					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ACTAAACAGTCGCTTGGAAGA	0.348000													28	128					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125447491	125447491	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr10:125447491G>T	ENST00000284674.1	+	3	882	c.829G>T	c.(829-831)Gtg>Ttg	p.V277L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	277					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCACTGGGGGGTGCTGTCCAA	0.572000													13	70					6.72482e-11	8.91242e-11	1	1	0
SMARCC1	6599	broad.mit.edu	37	3	47814416	47814416	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:47814416G>A	ENST00000254480.5	-	2	325	c.206C>T	c.(205-207)gCg>gTg	p.A69V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	69					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AGGAGCATCCGCATGAACATA	0.458000													5	85					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28122412	28122412	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:28122412C>G	ENST00000535992.1	-	2	362	c.16G>C	c.(16-18)Gtt>Ctt	p.V6L	RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_Missense_Mutation_p.V6L|PTHLH_ENST00000201015.4_Missense_Mutation_p.V6L|PTHLH_ENST00000354417.3_Missense_Mutation_p.V6L|PTHLH_ENST00000539239.1_Missense_Mutation_p.V6L|PTHLH_ENST00000395872.1_Missense_Mutation_p.V6L|PTHLH_ENST00000538310.1_Missense_Mutation_p.V6L|PTHLH_ENST00000545234.1_Missense_Mutation_p.V6L			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	6					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CACTGCTGAACCAGTCTCCGC	0.662000													2	6					0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37125164	37125164	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:37125164A>T	ENST00000421307.1	-	20	1663	c.1241T>A	c.(1240-1242)aTg>aAg	p.M414K	LRRFIP2_ENST00000440230.1_Missense_Mutation_p.M182K|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.M414K|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.M230K|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.M182K|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.M158K	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	414					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AAATTCTGCCATCTGTTCCTC	0.363000													22	135					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510527	71510527	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr4:71510527C>T	ENST00000396073.3	+	9	3665	c.3384C>T	c.(3382-3384)acC>acT	p.T1128T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1128					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAGAGGGACCAATGTACAGG	0.418000													22	57					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159166834	159166834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:159166834C>A	ENST00000368125.4	+	7	1093	c.936C>A	c.(934-936)taC>taA	p.Y312*	CADM3_ENST00000368124.4_Nonsense_Mutation_p.Y346*|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	312	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGCCTACTACACCCTCAATG	0.488000													12	94					1.08611e-07	1.31701e-07	1	1	0
FAM184A	79632	broad.mit.edu	37	6	119345391	119345391	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:119345391T>G	ENST00000338891.7	-	2	1190	c.747A>C	c.(745-747)gaA>gaC	p.E249D	FAM184A_ENST00000368475.4_Missense_Mutation_p.E129D|FAM184A_ENST00000352896.5_Missense_Mutation_p.E129D|FAM184A_ENST00000522284.1_Missense_Mutation_p.E129D|FAM184A_ENST00000521531.1_Missense_Mutation_p.E249D|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	249										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCAACTTGCCTTCATAATCCT	0.413000													20	69					0	0	1	0	0
DNAJC8	22826	broad.mit.edu	37	1	28541501	28541501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:28541501G>A	ENST00000263697.4	-	3	213	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	63	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GGATCTATCTGAAGAACCTGG	0.294000													8	33					0	0	1	0	0
RFC5	5985	broad.mit.edu	37	12	118457469	118457469	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:118457469C>T	ENST00000392542.2	+	4	633	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	RFC5_ENST00000229043.3_5'UTR|RFC5_ENST00000454402.2_Missense_Mutation_p.H55Y	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	55					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGACTGCCACACTTGCTTCT	0.502000													37	115					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17409325	17409325	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:17409325G>T	ENST00000380647.3	+	16	2734	c.2650G>T	c.(2650-2652)Gga>Tga	p.G884*	CNTLN_ENST00000425824.1_Nonsense_Mutation_p.G884*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.G884*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	884						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TCAAACTTTGGGAACAATTAT	0.358000													14	151					1.15088e-07	1.39336e-07	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89499398	89499398	+	Silent	SNP	G	G	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:89499398G>T	ENST00000336596.2	+	15	2793	c.2568G>T	c.(2566-2568)ctG>ctT	p.L856L	EPHA3_ENST00000494014.1_Silent_p.L856L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	856	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTATCAGCTGATGCTGGACT	0.502000										TSP Lung(6;0.00050)			8	92					0.00448238	0.00467041	1	1	0
IL36G	56300	broad.mit.edu	37	2	113742478	113742478	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:113742478G>A	ENST00000259205.4	+	5	431	c.362G>A	c.(361-363)cGt>cAt	p.R121H	IL36G_ENST00000376489.2_Missense_Mutation_p.R86H	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	121					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.R121H(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTTTTCTACCGTGCCAAGACT	0.512000													6	159					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237309	42237309	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr6:42237309T>C	ENST00000541110.1	-	5	588	c.20A>G	c.(19-21)tAc>tGc	p.Y7C	TRERF1_ENST00000354325.2_Missense_Mutation_p.Y7C|TRERF1_ENST00000372917.4_Missense_Mutation_p.Y7C|TRERF1_ENST00000372922.4_Missense_Mutation_p.Y7C|TRERF1_ENST00000340840.2_Missense_Mutation_p.Y7C			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	7					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTGGTCTTGTACAGTTGCTG	0.483000													7	56					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235993607	235993607	+	Silent	SNP	C	C	A	rs144446737		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:235993607C>A	ENST00000389794.3	-	3	285	c.111G>T	c.(109-111)acG>acT	p.T37T	LYST_ENST00000389793.2_Silent_p.T37T|LYST_ENST00000536965.1_Silent_p.T37T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	37					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGCCATGTGCGTCTCCTCCT	0.458000													15	54					2.94398e-08	3.65035e-08	1	1	0
KCND2	3751	broad.mit.edu	37	7	119915129	119915129	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:119915129T>A	ENST00000331113.4	+	1	1408	c.443T>A	c.(442-444)cTg>cAg	p.L148Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	148					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCCGAGCGCCTGCAGGACGAC	0.612000													27	121					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776814	164776814	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:164776814C>A	ENST00000264382.3	-	12	1397	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	445	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTTTCCCCTCTCATAGGTTG	0.363000										HNSCC(35;0.089)			8	47					0.000274275	0.000295373	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28302279	28302279	+	Silent	SNP	C	C	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:28302279C>T	ENST00000284987.5	-	7	2272	c.2151G>A	c.(2149-2151)caG>caA	p.Q717Q	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	717	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ACTTGTCATACTGCAGCTTTG	0.458000													74	249					0	0	1	0	0
MINOS1	440574	broad.mit.edu	37	1	19950001	19950002	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:19950001_19950002insG	ENST00000322753.6	+	3	202_203	c.146_147insG	c.(145-147)aggfs	p.R49fs	MINOS1_ENST00000486890.1_3'UTR|MINOS1-NBL1_ENST00000602662.1_Intron	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	CA151_HUMAN	mitochondrial inner membrane organizing system 1	49						integral to membrane|mitochondrion											GGTTCTGGCATGGGATTAGGAA	0.391													61	210	---	---	---	---					
LCE3E	353145	broad.mit.edu	37	1	152538464	152538464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:152538464delC	ENST00000368789.1	-	2	276	c.221delG	c.(220-222)gcfs	p.G74fs		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	74					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CTGACCACTGCCCCTGTCACA	0.647													30	207	---	---	---	---					
CFH	3075	broad.mit.edu	37	1	196642253	196642253	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr1:196642253delG	ENST00000367429.4	+	2	444	c.204delG	c.(202-204)aafs	p.K68fs	CFH_ENST00000359637.2_Frame_Shift_Del_p.K68fs|CFH_ENST00000439155.2_Frame_Shift_Del_p.K68fs|CFH_ENST00000496761.1_3'UTR	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	68	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATGCAGGAAGGGAGAATGGG	0.368													25	179	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	RNA	DEL	G	G	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303													4	4	---	---	---	---					
IGKV1-12	28940	broad.mit.edu	37	2	89339815	89339815	+	RNA	DEL	C	C	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:89339815delC	ENST00000480492.1	-	0	303																											AGATCCACTGCCGCTGAACCT	0.507													19	179	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163236406	163236406	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr2:163236406delC	ENST00000332142.5	-	14	3187	c.3088delG	c.(3088-3090)aafs	p.E1030fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1030					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGTTCCACTTCCCCGTAGGTG	0.507													32	229	---	---	---	---					
DALRD3	55152	broad.mit.edu	37	3	49053379	49053380	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:49053379_49053380delAG	ENST00000440857.1	-	11	1670_1671	c.968_969delCT	c.(967-969)tfs	p.S323fs	DALRD3_ENST00000395462.4_Intron|DALRD3_ENST00000313778.5_Intron|DALRD3_ENST00000341949.4_Intron|DALRD3_ENST00000441576.2_Intron|WDR6_ENST00000395474.3_3'UTR			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	0					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AATAGAGTGTAGAGTGTCCTGG	0.550													19	82	---	---	---	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs76346895		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:75790810_75790811insT	ENST00000422325.1	-	3	456_457	c.134_135insA	c.(133-135)actfs	p.T45fs	ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN	zinc finger protein 717	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													2	4	---	---	---	---					
ROPN1	54763	broad.mit.edu	37	3	123699285	123699285	+	Frame_Shift_Del	DEL	G	G	-	rs138364183		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:123699285delG	ENST00000479867.1	-	2	292	c.44delC	c.(43-45)cgfs	p.P15fs	ROPN1_ENST00000184183.4_Frame_Shift_Del_p.P15fs|ROPN1_ENST00000495093.1_Frame_Shift_Del_p.P15fs|ROPN1_ENST00000484329.1_Frame_Shift_Del_p.P15fs|ROPN1_ENST00000405845.3_Frame_Shift_Del_p.P15fs|ROPN1_ENST00000459660.1_Frame_Shift_Del_p.P15fs			Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	15	RIIa.				signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		CAGCATCTTCGGCAGCTCCGG	0.527													21	113	---	---	---	---					
RASA2	5922	broad.mit.edu	37	3	141292848	141292848	+	Frame_Shift_Del	DEL	C	C	-	rs137996961		TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr3:141292848delC	ENST00000286364.3	+	14	1457	c.1422delC	c.(1420-1422)tgfs	p.C474fs	RASA2_ENST00000452898.1_Frame_Shift_Del_p.C474fs			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	474	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GTATGAGCTGCCCCACTGTAA	0.338													10	58	---	---	---	---					
RASA1	5921	broad.mit.edu	37	5	86627277	86627278	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:86627277_86627278insT	ENST00000456692.2	+	2	236_237	c.121_122insT	c.(121-123)ttcfs	p.F41fs	RASA1_ENST00000506290.1_Frame_Shift_Ins_p.F52fs|RASA1_ENST00000512763.1_Frame_Shift_Ins_p.F51fs|RASA1_ENST00000274376.6_Frame_Shift_Ins_p.F218fs	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	218					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTCCTTTGTACTTTCATTTCTT	0.386													36	144	---	---	---	---					
JADE2	23338	broad.mit.edu	37	5	133897979	133897980	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr5:133897979_133897980insA	ENST00000395003.1	+	7	953_954	c.774_775insA	c.(772-777)ccagcgfs	p.A259fs	PHF15_ENST00000282605.4_Frame_Shift_Ins_p.A259fs|PHF15_ENST00000402835.1_Frame_Shift_Ins_p.A259fs|PHF15_ENST00000361895.2_Frame_Shift_Ins_p.A259fs	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		259					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTCTGCCCCAAGCGAGGAGG	0.629													22	77	---	---	---	---					
C7orf66	154907	broad.mit.edu	37	7	108524502	108524502	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:108524502delG	ENST00000379007.2	-	1	142	c.88delC	c.(88-90)ttfs	p.L30fs		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	30						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						AGCATTGCAAGGCAACTGAGG	0.393													14	65	---	---	---	---					
PPP1R3A	5506	broad.mit.edu	37	7	113518262	113518262	+	Frame_Shift_Del	DEL	C	C	-	rs148408134	byFrequency	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:113518262delC	ENST00000284601.3	-	4	2953	c.2885delG	c.(2884-2886)gtfs	p.G962fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	962					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTCTCAATACCCTGGATTTC	0.403													17	183	---	---	---	---					
OR9A4	130075	broad.mit.edu	37	7	141619203	141619203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:141619203delT	ENST00000548136.1	+	1	587	c.528delT	c.(526-528)aafs	p.N176fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGTGAACAATTTTTTTTGTG	0.383													7	283	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151970890	151970891	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr7:151970890_151970891insT	ENST00000355193.2	-	7	1129_1130	c.911_912insA	c.(910-912)catfs	p.H304fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.H304fs					lysine (K)-specific methyltransferase 2C																		AATGATACATCTGGGTACATTT	0.436													9	362	---	---	---	---					
PTPRD	5789	broad.mit.edu	37	9	8521421	8521421	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr9:8521421delC	ENST00000381196.4	-	17	1360	c.817delG	c.(817-819)cafs	p.A273fs	PTPRD_ENST00000355233.5_Frame_Shift_Del_p.A273fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.A260fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.A270fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.A263fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.A263fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.A273fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.A273fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.A273fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.A270fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.A260fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	273	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGATCTTCTGCCCCCAACATC	0.453										TSP Lung(15;0.13)			25	208	---	---	---	---					
DCDC1	341019	broad.mit.edu	37	11	30914518	30914519	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:30914518_30914519insA	ENST00000597505.1	-	34	4918_4919	c.4919_4920insT	c.(4918-4920)agafs	p.R1640fs	DCDC1_ENST00000406071.2_Frame_Shift_Ins_p.R378fs			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTTGGATTCCATTTCTTGGAT	0.386													26	83	---	---	---	---					
MAML2	84441	broad.mit.edu	37	11	95712545	95712546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:95712545_95712546insC	ENST00000524717.1	-	5	4321_4322	c.3037_3038insG	c.(3037-3039)agtfs	p.S1013fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1013					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGGAGCCACTGCCCTCTGGGAA	0.540			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								8	40	---	---	---	---					
ELMOD1	55531	broad.mit.edu	37	11	107518310	107518310	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr11:107518310delG	ENST00000265840.7	+	7	802	c.537delG	c.(535-537)ctfs	p.L179fs	ELMOD1_ENST00000443271.2_Frame_Shift_Del_p.L179fs|ELMOD1_ENST00000531234.1_Frame_Shift_Del_p.L173fs	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	179	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TGGGACTTCTGGGACTGTACA	0.413													12	49	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													9	293	---	---	---	---					
CHSY1	22856	broad.mit.edu	37	15	101775437	101775437	+	Frame_Shift_Del	DEL	C	C	-	rs74545602	byFrequency	TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr15:101775437delC	ENST00000254190.3	-	2	1141	c.666delG	c.(664-666)ggfs	p.G222fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	222					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCACGCCAGGCCCCCCCATGC	0.612													7	64	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58594169	58594170	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr16:58594169_58594170insC	ENST00000317147.5	-	17	2408_2409	c.2076_2077insG	c.(2074-2079)atcaaafs	p.IK692fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.IK692fs|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.IK692fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	692					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGTCCTTTTGGCATAACTCCAG	0.431													22	151	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577052	7577052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr17:7577052delG	ENST00000420246.2	-	8	1018	c.886delC	c.(886-888)acfs	p.H297fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	297	Interaction with HIPK1 (By similarity).		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K291fs*48(8)|p.0?(8)|p.H296Y(4)|p.H296fs*49(2)|p.?(2)|p.H296N(2)|p.L265_K305del41(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(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)		AGCTCGTGGTGAGGCTCCCCT	0.557		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)			23	48	---	---	---	---					
RASIP1	54922	broad.mit.edu	37	19	49232628	49232628	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr19:49232628delG	ENST00000222145.4	-	5	1603	c.1399delC	c.(1399-1401)ggfs	p.R467fs		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	467					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TCAGCCTCCCGCAGCAGGAGG	0.741													2	4	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11180911	11180911	+	RNA	DEL	G	G	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:11180911delG	ENST00000603265.1	+	0	231																											CGTACTGCTTGGGGTCCCTTC	0.463													10	438	---	---	---	---					
MSANTD2P1	100130310	broad.mit.edu	37	21	24474081	24474082	+	RNA	INS	-	-	A			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:24474081_24474082insA	ENST00000421604.1	+	0	297																											CAGATGGCGGCACCATGGAGGA	0.485													11	34	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35257749	35257749	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chr21:35257749delC	ENST00000381318.3	+	38	5054	c.4766delC	c.(4765-4767)tcfs	p.S1589fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.S1584fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.S1589fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.S1528fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1589	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATAGTCCGTTCCCAAAGGGCA	0.517													21	108	---	---	---	---					
CXorf21	80231	broad.mit.edu	37	X	30578220	30578220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:30578220delG	ENST00000378962.3	-	3	575	c.253delC	c.(253-255)agfs	p.Q85fs		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	85										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GGGTTTGTCTGCAGCACTGTG	0.458													49	265	---	---	---	---					
DMD	1756	broad.mit.edu	37	X	32382785	32382785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:32382785delG	ENST00000357033.4	-	36	5274	c.5068delC	c.(5068-5070)acfs	p.H1690fs	DMD_ENST00000378677.2_Frame_Shift_Del_p.H1686fs	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1690	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGTGATGTGGTCCACATTC	0.363													17	113	---	---	---	---					
DMD	1756	broad.mit.edu	37	X	32383258	32383258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8511-01A-11D-2393-08	TCGA-55-8511-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6201ec98-4000-4ed2-b045-c5228a3e2d12	9c287af3-d2fd-4dca-b2e0-0e92407f58d9	g.chrX:32383258delC	ENST00000357033.4	-	35	5110	c.4904delG	c.(4903-4905)gafs	p.G1635fs	DMD_ENST00000378677.2_Frame_Shift_Del_p.G1631fs	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1635	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAAGGCCTCTCCTACCTCTGT	0.443													11	95	---	---	---	---					
