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
SLFN11	91607	broad.mit.edu	37	17	33690685	33690685	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:33690685G>A	ENST00000394566.1	-	4	414	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SLFN11_ENST00000308377.4_Missense_Mutation_p.R48W	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	48						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATGCAGCCCGCATAACTCTC	0.458000													6	393					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520097	40520097	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:40520097G>A	ENST00000347077.4	+	7	1136	c.920G>A	c.(919-921)gGg>gAg	p.G307E	ZNF546_ENST00000600094.1_Missense_Mutation_p.G281E|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGAATGTGGGAAAGCCTTT	0.408000													71	158					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11363491	11363491	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:11363491G>A	ENST00000294618.7	-	3	287	c.276C>T	c.(274-276)tgC>tgT	p.C92C		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	92					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCGTGGTCCGGCATTCCCGGG	0.637000													3	44					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332573	31332573	+	Silent	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:31332573C>A	ENST00000544665.3	+	15	1793	c.1722C>A	c.(1720-1722)ggC>ggA	p.G574G	ITGAM_ENST00000287497.8_Silent_p.G573G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	573					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						GGATAGCAGGCTCCAAGCTCT	0.542000													108	260					2.13259e-42	2.45109e-42	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37325494	37325494	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:37325494T>A	ENST00000262825.5	+	5	659	c.442T>A	c.(442-444)Ttc>Atc	p.F148I	CSF2RB_ENST00000403662.3_Missense_Mutation_p.F148I|CSF2RB_ENST00000536485.1_Missense_Mutation_p.F89I|CSF2RB_ENST00000406230.1_Missense_Mutation_p.F148I	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	148	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCAGGACCACTTCCTGCTGAC	0.637000													99	184					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95995857	95995857	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:95995857G>A	ENST00000260766.3	+	7	3034	c.2400G>A	c.(2398-2400)ttG>ttA	p.L800L	PLCE1_ENST00000371375.1_Silent_p.L492L|PLCE1_ENST00000371380.2_Silent_p.L800L|PLCE1_ENST00000371385.3_Silent_p.L492L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	800					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGCTCCTTGAAGGATAAAA	0.458000													12	86					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576201	33576201	+	Silent	SNP	G	G	A	rs141717162		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:33576201G>A	ENST00000504830.1	-	19	4265	c.3930C>T	c.(3928-3930)aaC>aaT	p.N1310N	ADAMTS12_ENST00000352040.3_Silent_p.N1225N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1310	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGCCGTGGCCGTTTGTGAGCT	0.468000										HNSCC(64;0.19)			77	396					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173993199	173993199	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:173993199C>T	ENST00000457714.1	+	5	1170	c.741C>T	c.(739-741)ttC>ttT	p.F247F	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Silent_p.F287F|NLGN1_ENST00000361589.4_Silent_p.F247F|NLGN1_ENST00000545397.1_Silent_p.F247F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	264					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.F247L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACATTGGATTCTTTGGTGGTG	0.438000													50	205					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26717900	26717900	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:26717900C>T	ENST00000272371.2	-	9	933	c.807G>A	c.(805-807)ttG>ttA	p.L269L	OTOF_ENST00000403946.3_Silent_p.L269L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	269	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCATGTTCAAGCCCACCA	0.597000													36	86					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32750219	32750219	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:32750219T>A	ENST00000328834.5	+	4	653	c.337T>A	c.(337-339)Tac>Aac	p.Y113N	CNOT10_ENST00000331889.6_Missense_Mutation_p.Y113N|CNOT10_ENST00000454516.2_Missense_Mutation_p.Y173N|CNOT10_ENST00000538368.1_5'UTR	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	113					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	p.Y113H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAGCATGTTGTACTATAATCA	0.348000													49	47					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35422752	35422752	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:35422752G>A	ENST00000237536.4	-	14	4074	c.3733C>T	c.(3733-3735)Cct>Tct	p.P1245S	SOGA1_ENST00000456801.2_Missense_Mutation_p.P848S|SOGA1_ENST00000357779.3_Missense_Mutation_p.P1007S|SOGA1_ENST00000279034.5_Intron	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	1007										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTCTTGTCAGGAGCCGTGTAG	0.637000													6	12					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29923281	29923281	+	Splice_Site	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:29923281C>T	ENST00000568000.1	-	3	1505	c.504_splice	c.e3+1	p.K168_splice		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	168					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GGGGCCTCACCTTGGAGGTGC	0.672000													14	24					0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27075534	27075534	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:27075534C>T	ENST00000262395.5	+	6	759	c.630C>T	c.(628-630)caC>caT	p.H210H	TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Silent_p.H210H	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	210					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCCAGAGCCACCAGTACCAGT	0.597000													12	32					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42180639	42180639	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:42180639C>T	ENST00000401548.3	+	26	3237	c.3197C>T	c.(3196-3198)gCc>gTc	p.A1066V	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Missense_Mutation_p.A74V|MEI1_ENST00000400107.1_Missense_Mutation_p.A399V	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1066							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGCGGACAGCCCTGCGACAA	0.597000													3	60					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123305081	123305081	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:123305081A>G	ENST00000296513.2	+	5	674	c.489A>G	c.(487-489)ctA>ctG	p.L163L	ADAD1_ENST00000388725.2_Silent_p.L145L|ADAD1_ENST00000388724.2_Silent_p.L163L|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	163	DRBM.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAGCTTCTACAACTGGATG	0.358000													28	84					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295236	10295236	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:10295236G>A	ENST00000403437.2	-	39	5721	c.5627C>T	c.(5626-5628)gCg>gTg	p.A1876V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1876					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						TTTCACCTTCGCCTGTAATTT	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				115	282					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122287599	122287599	+	Silent	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:122287599T>A	ENST00000296161.4	+	3	852	c.663T>A	c.(661-663)tcT>tcA	p.S221S	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	221					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCTGCATTTCTCCTTCTGAAC	0.413000													26	47					0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836666	142836666	+	Silent	SNP	T	T	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:142836666T>G	ENST00000291009.3	+	4	412	c.372T>G	c.(370-372)ccT>ccG	p.P124P		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	124						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GCATCTGCCCTGATGATGCTG	0.468000													104	150					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130840396	130840396	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:130840396C>T	ENST00000509018.1	-	11	1382	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E393K|FNIP1_ENST00000514667.1_Missense_Mutation_p.E443K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E393K|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E108K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E393K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E393K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E393K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	393					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATTTCTCCCTCTTCCTCAACT	0.413000													35	87					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168067394	168067394	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:168067394T>A	ENST00000409195.1	+	4	801	c.712T>A	c.(712-714)Ttc>Atc	p.F238I	XIRP2_ENST00000409273.1_Missense_Mutation_p.F16I|XIRP2_ENST00000420519.1_Missense_Mutation_p.F271I|XIRP2_ENST00000295237.9_Missense_Mutation_p.F238I|XIRP2_ENST00000409728.1_Missense_Mutation_p.F271I|XIRP2_ENST00000409756.2_Missense_Mutation_p.F238I|XIRP2_ENST00000409043.1_Missense_Mutation_p.F238I|XIRP2_ENST00000409605.1_Missense_Mutation_p.F16I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	63					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						CTGCCGCAGCTTCTCTGCTAA	0.512000													32	99					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	801279	801279	+	Splice_Site	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:801279C>T	ENST00000283441.8	-	12	1565	c.1181_splice	c.e12-1	p.G394_splice	ZDHHC11_ENST00000424784.2_Splice_Site_p.G394_splice|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	394						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTTGTTGCAGCCTGTTTGCAA	0.383000													33	174					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038095	37038095	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:37038095A>G	ENST00000334116.7	-	6	1660	c.1050T>C	c.(1048-1050)tgT>tgC	p.C350C	ZNF529_ENST00000591340.1_Silent_p.C455C	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AGAACTTTCCACACTCCTTAC	0.368000													25	76					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44275034	44275034	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:44275034A>T	ENST00000244571.4	-	6	994	c.992T>A	c.(991-993)cTc>cAc	p.L331H	TMEM151B_ENST00000438774.2_3'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	331					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GCAGACACTGAGTGTGCGGAT	0.642000													11	23					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43345053	43345053	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:43345053C>A	ENST00000378852.3	+	6	742	c.617C>A	c.(616-618)aCa>aAa	p.T206K	API5_ENST00000420461.2_Missense_Mutation_p.T152K|API5_ENST00000534600.1_Missense_Mutation_p.T206K|API5_ENST00000531273.1_Missense_Mutation_p.T206K|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.T195K	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	206					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.L204_S208delLQTVS(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGCTTACAGACAGTGAGTGGA	0.438000													50	94					6.18754e-15	6.59756e-15	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31477249	31477249	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:31477249C>T	ENST00000408912.3	+	7	2545	c.2228C>T	c.(2227-2229)tCt>tTt	p.S743F	ARMC5_ENST00000268314.4_Missense_Mutation_p.S648F|ARMC5_ENST00000563544.1_Missense_Mutation_p.S648F|ARMC5_ENST00000538189.1_Missense_Mutation_p.S680F|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.S292F			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	648							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGCTGCTCTCTGGGAGCCCT	0.647000													4	110					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89257810	89257810	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:89257810C>T	ENST00000289746.2	+	9	1370	c.1305C>T	c.(1303-1305)caC>caT	p.H435H		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	435	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGACCCAGCACGTGCTCAGCC	0.672000													24	35					0	0	1	0	0
PDZD11	51248	broad.mit.edu	37	X	69507978	69507978	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:69507978A>C	ENST00000239666.4	-	4	349	c.217T>G	c.(217-219)Ttc>Gtc	p.F73V	PDZD11_ENST00000374454.1_Missense_Mutation_p.F73V|PDZD11_ENST00000473667.1_5'UTR	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	73	PDZ.					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						TTGGAGATGAAGATGCCTAGC	0.463000													15	19					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74863197	74863197	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:74863197G>A	ENST00000358399.3	+	14	1397	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q	GDA_ENST00000545168.1_Missense_Mutation_p.R361Q|GDA_ENST00000238018.4_Missense_Mutation_p.R435Q|GDA_ENST00000376989.3_Missense_Mutation_p.R374Q|GDA_ENST00000376986.1_Missense_Mutation_p.R357Q	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	435					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAGATGATCGAAATATTGAA	0.403000													52	124					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613683	3613683	+	RNA	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:3613683C>G	ENST00000301749.7	-	0	1660				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCTTCATGTCTTGCTCGTAA	0.592000													16	31					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135797293	135797293	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:135797293C>A	ENST00000264977.3	+	7	3246	c.2629C>A	c.(2629-2631)Caa>Aaa	p.Q877K	PPP2R3A_ENST00000492624.2_Missense_Mutation_p.Q141K|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.Q141K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.Q256K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	877					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAACTTTTTGCAAGTATGCCT	0.318000													22	80					0.00229938	0.00233902	1	1	0
MCM4	4173	broad.mit.edu	37	8	48874211	48874211	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:48874211T>C	ENST00000262105.2	+	2	415	c.206T>C	c.(205-207)tTt>tCt	p.F69S	MCM4_ENST00000523944.1_Missense_Mutation_p.F69S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	69					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACGTGCTGTTTTCCAGCCCT	0.557000													18	174					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30704714	30704714	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:30704714A>G	ENST00000471646.1	-	5	932	c.515T>C	c.(514-516)gTt>gCt	p.V172A	CRHR2_ENST00000348438.4_Missense_Mutation_p.V199A|CRHR2_ENST00000341843.4_Missense_Mutation_p.V158A|CRHR2_ENST00000506074.2_Missense_Mutation_p.V172A	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	172					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCATGGTCAACGAGCTGCAG	0.572000													4	99					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7734485	7734485	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7734485C>T	ENST00000572933.1	+	80	13772	c.12312C>T	c.(12310-12312)ggC>ggT	p.G4104G	DNAH2_ENST00000389173.2_Silent_p.G4104G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4104					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATTGCCTGGCATGGACCCCC	0.507000													170	429					0	0	1	0	0
MED30	90390	broad.mit.edu	37	8	118552148	118552148	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:118552148G>A	ENST00000297347.3	+	4	632	c.468G>A	c.(466-468)ctG>ctA	p.L156L	MED30_ENST00000522839.1_Silent_p.L121L	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	156					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			ATCAACAGCTGAAACAAATTA	0.303000													18	40					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13251361	13251361	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:13251361G>C	ENST00000262487.3	+	2	355	c.349G>C	c.(349-351)Gat>Cat	p.D117H	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	117						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TTCCAAAGCTGATATCAATGG	0.443000													7	45					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84028144	84028144	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:84028144G>A	ENST00000280241.8	-	1	44	c.45C>T	c.(43-45)tcC>tcT	p.S15S	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Silent_p.S15S|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCATCCCATCGGACCCCCGGC	0.577000													95	357					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565181	20565181	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:20565181A>G	ENST00000329697.6	-	5	826	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L	ACSM2B_ENST00000565232.1_Missense_Mutation_p.F220L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.F220L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.F141L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	220					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCACTAGTGAAGTAGATGGCA	0.512000													61	119					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67377002	67377002	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:67377002C>T	ENST00000322776.6	+	4	559	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H127Y|NDUFV1_ENST00000415352.2_Missense_Mutation_p.H129Y|NDUFV1_ENST00000532303.1_Missense_Mutation_p.H35Y	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	136					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CCATGATCCTCACAAGCTGCT	0.632000													111	311					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033334	95033334	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:95033334C>G	ENST00000557004.1	+	3	1098	c.677C>G	c.(676-678)tCa>tGa	p.S226*	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Nonsense_Mutation_p.S226*|SERPINA4_ENST00000555095.1_Nonsense_Mutation_p.S226*			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	226					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTCATTTCCTCAAGGACCACT	0.512000													39	100					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78133748	78133748	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:78133748A>T	ENST00000566780.1	+	1	439	c.73A>T	c.(73-75)Aga>Tga	p.R25*	WWOX_ENST00000406884.2_Nonsense_Mutation_p.R25*|WWOX_ENST00000355860.3_Nonsense_Mutation_p.R25*|WWOX_ENST00000408984.3_Nonsense_Mutation_p.R25*|WWOX_ENST00000539474.2_Nonsense_Mutation_p.R25*|WWOX_ENST00000402655.2_Nonsense_Mutation_p.R25*|WWOX_ENST00000569818.1_Nonsense_Mutation_p.R25*	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	25	WW 1.				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CTGGGAGGAGAGAACCACCAA	0.701000											OREG0023952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													5	181					0	0	1	0	0
PGP	283871	broad.mit.edu	37	16	2263949	2263949	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2263949C>T	ENST00000333503.7	-	2	775	c.746G>A	c.(745-747)gGc>gAc	p.G249D		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	249					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						GGGGTTGATGCCGTATTCCTG	0.647000													4	198					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252398	145252398	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:145252398G>A	ENST00000377976.1	-	1	133	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	45										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TTCCTCCTTTGGTGACTCTAA	0.498000													74	108					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145535006	145535006	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:145535006G>C	ENST00000369304.3	+	15	2084	c.1909G>C	c.(1909-1911)Gcc>Ccc	p.A637P	ITGA10_ENST00000538811.1_Missense_Mutation_p.A506P|ITGA10_ENST00000539363.1_Missense_Mutation_p.A494P	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	637					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGGGGGCAGCCATCCTGCT	0.562000													49	159					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34046371	34046371	+	Silent	SNP	C	C	A	rs114558328	by1000genomes	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:34046371C>A	ENST00000354992.2	-	4	961	c.390G>T	c.(388-390)ccG>ccT	p.P130P	LARGE_ENST00000437602.2_Silent_p.P130P|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000337431.2_Silent_p.P130P|LARGE_ENST00000397394.2_Silent_p.P130P|LARGE_ENST00000402320.1_Silent_p.P130P	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	130					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCTCCACGACCGGCTGCTGCC	0.597000													52	143					2.165e-29	2.4408e-29	1	1	0
SPECC1	92521	broad.mit.edu	37	17	20109083	20109083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:20109083C>T	ENST00000395530.2	+	2	1686	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	SPECC1_ENST00000472876.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.T574M|SPECC1_ENST00000395525.3_Missense_Mutation_p.T493M|SPECC1_ENST00000395522.2_Missense_Mutation_p.T493M|SPECC1_ENST00000395527.4_Missense_Mutation_p.T574M|SPECC1_ENST00000261503.5_Missense_Mutation_p.T574M	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	574						nucleus		p.T574M(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTGGAGCAGACGGCAGAGAGC	0.463000													53	104					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52201177	52201177	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52201177C>T	ENST00000354534.5	+	27	6085	c.5907C>T	c.(5905-5907)gcC>gcT	p.A1969A	SCN8A_ENST00000545061.1_Silent_p.A1928A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1969					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGAAAGAGCCAAAAGACAAA	0.428000													16	23					0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80091853	80091853	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:80091853C>A	ENST00000398291.3	-	6	778	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	229					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						ATGTCATAGGCACTAAGTGCA	0.398000													8	112					2.17888e-05	2.24222e-05	1	1	0
LRP1	4035	broad.mit.edu	37	12	57571369	57571369	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:57571369C>T	ENST00000243077.3	+	26	4822	c.4356C>T	c.(4354-4356)gaC>gaT	p.D1452D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1452					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D1452D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGGATTGACGCCAGGTCAG	0.657000													11	53					0	0	1	0	0
KCNS1	3787	broad.mit.edu	37	20	43726837	43726837	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:43726837C>T	ENST00000306117.1	-	4	972	c.576G>A	c.(574-576)gcG>gcA	p.A192A	KCNS1_ENST00000537075.1_Silent_p.A192A	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	192						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CGCCATAGCGCGCCAGTTCTC	0.716000													7	24					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7578419C>A	ENST00000420246.2	-	5	643	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E171*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(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)		CTCACAACCTCCGTCATGTGC	0.662000		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)			69	45					4.67498e-28	5.23716e-28	1	1	0
RIMS2	9699	broad.mit.edu	37	8	105235966	105235966	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:105235966C>T	ENST00000339750.2	+	1	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCCTCCTTCGAGGCACTGG	0.637000										HNSCC(12;0.0054)			4	26					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2881955	2881955	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2881955G>A	ENST00000382280.3	+	4	501	c.422G>A	c.(421-423)cGc>cAc	p.R141H	ZG16B_ENST00000572863.1_Missense_Mutation_p.R111H	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	141						extracellular region	sugar binding	p.R141H(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						AGCAAGGACCGCTATTTCTAT	0.537000													49	103					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52378996	52378996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52378996C>T	ENST00000257963.4	+	6	1077	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	ACVR1B_ENST00000541224.1_Nonsense_Mutation_p.R375*|ACVR1B_ENST00000426655.2_Nonsense_Mutation_p.R334*|ACVR1B_ENST00000542485.1_Nonsense_Mutation_p.R282*|ACVR1B_ENST00000415850.2_Nonsense_Mutation_p.R334*|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	334	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATTGCTCATCGAGACTTAAA	0.433000													44	32					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													6	236					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397351	5397351	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:5397351C>G	ENST00000341928.2	-	18	2887	c.2547G>C	c.(2545-2547)gaG>gaC	p.E849D	EPB41L3_ENST00000544123.1_Missense_Mutation_p.E680D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E627D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E627D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E849D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E146D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E154D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	849	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCACCACCTTCTCAGTGCTAA	0.592000													44	69					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587000													6	503					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059227	248059227	+	Silent	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:248059227G>T	ENST00000537741.1	+	3	596	c.339G>T	c.(337-339)ctG>ctT	p.L113L	OR2W3_ENST00000360358.3_Silent_p.L113L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TGGAGTGCCTGCTTCTGGCTG	0.567000													49	94					1.32667e-27	1.47686e-27	1	1	0
GYS2	2998	broad.mit.edu	37	12	21693415	21693415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:21693415G>A	ENST00000261195.2	-	14	1992	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	580					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCCTTTGGCGGCGTGACTGT	0.438000													117	267					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25262777	25262777	+	Silent	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:25262777C>A	ENST00000216962.4	+	12	1622	c.1512C>A	c.(1510-1512)atC>atA	p.I504I		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	504					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CCGATACCATCGTGGAGGTGA	0.622000													5	47					0.000673444	0.000689015	1	1	0
C9orf37	85026	broad.mit.edu	37	9	140510521	140510521	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:140510521A>G	ENST00000371417.3	-	3	671	c.131T>C	c.(130-132)aTa>aCa	p.I44T	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	44										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TACCTTATCTATAAAATGCAC	0.527000													11	29					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165378524	165378524	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:165378524G>C	ENST00000263915.3	-	6	1320	c.782C>G	c.(781-783)tCt>tGt	p.S261C	GRB14_ENST00000543549.1_Missense_Mutation_p.S174C	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	261	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATATAAACCAGATCTTCTTAG	0.313000													40	107					0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190930421	190930421	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:190930421G>C	ENST00000445281.1	+	2	167	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	OSTN_ENST00000339051.1_Missense_Mutation_p.E34Q			P61366	OSTN_HUMAN	osteocrin	34					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AACAACAACAGAGGTAATGGA	0.348000													24	61					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132215495	132215495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:132215495C>T	ENST00000260818.6	+	36	4392	c.4144C>T	c.(4144-4146)Cgt>Tgt	p.R1382C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1382							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCTCTTCAACCGTCATAAAGA	0.348000													22	170					0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056307	7056307	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:7056307C>G	ENST00000310074.7	+	2	978	c.789C>G	c.(787-789)taC>taG	p.Y263*	TADA2B_ENST00000515646.1_Nonsense_Mutation_p.Y171*|TADA2B_ENST00000512388.1_Nonsense_Mutation_p.Y188*	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GGCCGCTGTACCAGTTCATGT	0.527000													15	56					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056369	26056369	+	Silent	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:26056369C>G	ENST00000343677.2	-	1	330	c.288G>C	c.(286-288)acG>acC	p.T96T		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	96	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGTGCCTTTCGTTTGCACCA	0.532000													50	241					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417683	55417683	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:55417683G>A	ENST00000594765.1	+	2	86	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	NCR1_ENST00000598576.1_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.A21T|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Missense_Mutation_p.A21T|NCR1_ENST00000338835.5_Missense_Mutation_p.A21T|NCR1_ENST00000291890.4_Missense_Mutation_p.A21T			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	21					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAGGATCAGCGCCCAGCAGCG	0.612000													32	56					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	891548	891548	+	Silent	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:891548T>A	ENST00000327044.6	-	5	583	c.534A>T	c.(532-534)cgA>cgT	p.R178R	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	178				R -> Q (in Ref. 1; CAB43240).		nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCACAGCTGCTCGGAACGCCT	0.602000													77	37					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783610	43783610	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:43783610G>A	ENST00000372476.3	+	17	2868	c.2789G>A	c.(2788-2790)cGg>cAg	p.R930Q	TIE1_ENST00000433781.2_Missense_Mutation_p.R575Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	930	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATTTTCTGCGGAAAAGCCGG	0.532000													190	371					0	0	1	0	0
VAMP1	6843	broad.mit.edu	37	12	6575058	6575058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:6575058C>A	ENST00000361716.3	-	3	693	c.238G>T	c.(238-240)Gag>Tag	p.E80*	VAMP1_ENST00000400911.3_Nonsense_Mutation_p.E80*|TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000535180.1_Nonsense_Mutation_p.E80*|VAMP1_ENST00000396308.3_Nonsense_Mutation_p.E80*|VAMP1_ENST00000544432.1_5'UTR			P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	80	v-SNARE coiled-coil homology.				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding	p.E80*(1)		endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GCACTGCTCTCAAATTGTGAT	0.512000											OREG0021627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	120					0.184627	0.185676	1	1	0
L2HGDH	79944	broad.mit.edu	37	14	50736050	50736050	+	Splice_Site	SNP	T	T	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:50736050T>G	ENST00000267436.4	-	7	1136		c.e7-2		L2HGDH_ENST00000421284.3_Splice_Site|L2HGDH_ENST00000261699.4_Splice_Site			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase						2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTCCTCTCCCTAGTGCAAAAT	0.383000													154	70					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087422	55087422	+	Silent	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:55087422G>T	ENST00000251377.3	+	7	1234	c.1101G>T	c.(1099-1101)ctG>ctT	p.L367L	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.L367L|LILRA2_ENST00000391737.1_Silent_p.L355L|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.L367L|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CACTGCATCTGAGATCAGAGC	0.587000													52	82					4.33383e-22	4.76452e-22	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49435775	49435775	+	Splice_Site	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:49435775T>C	ENST00000301067.7	-	29	6109		c.e29-2			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTGACCAGTCTGGAGGGCAGA	0.557000													14	2					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074734	20074734	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:20074734C>T	ENST00000351989.3	+	3	1199	c.770C>T	c.(769-771)gCc>gTc	p.A257V	DGCR8_ENST00000383024.2_Missense_Mutation_p.A257V|DGCR8_ENST00000407755.1_Missense_Mutation_p.A257V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	257	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGCCTTTGTGCCCCCAAAAAG	0.527000													4	188					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53639439	53639439	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:53639439G>A	ENST00000262135.4	-	24	3642	c.3549C>T	c.(3547-3549)gcC>gcT	p.A1183A	RPGRIP1L_ENST00000564374.1_Silent_p.A1217A|RPGRIP1L_ENST00000563746.1_Silent_p.A1229A|RPGRIP1L_ENST00000379925.3_Silent_p.A1263A	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1263			A -> G (in a patient with Meckel-Gruber like syndrome also carrying L-220 and V- 280 in TTC21B).		negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAAACATGTCGGCAAGGTCGA	0.527000													36	98					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45636953	45636953	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:45636953A>G	ENST00000273317.4	+	1	603	c.582A>G	c.(580-582)ccA>ccG	p.P194P	LIMD1_ENST00000440097.1_Silent_p.P194P|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	194					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTGACAAACCAGGAGTGTCCC	0.607000													48	49					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													6	228					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21896804	21896804	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:21896804C>G	ENST00000374840.3	+	8	1049	c.799C>G	c.(799-801)Cac>Gac	p.H267D	ALPL_ENST00000539907.1_Missense_Mutation_p.H190D|ALPL_ENST00000540617.1_Missense_Mutation_p.H212D|ALPL_ENST00000374832.1_Missense_Mutation_p.H267D|ALPL_ENST00000374830.1_5'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.H267D	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	267					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CTAGCACTCCCACTTCATCTG	0.587000													46	20					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95539278	95539278	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:95539278T>A	ENST00000295201.4	+	2	649	c.512T>A	c.(511-513)aTc>aAc	p.I171N	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	171					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCCGAGCTCATCCGGAACATT	0.607000													31	63					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74116174	74116174	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:74116174C>T	ENST00000370336.4	+	7	1053	c.895C>T	c.(895-897)Cct>Tct	p.P299S	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	299	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						TTATTTAATGCCTGGATTTAT	0.378000													33	87					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749083	2749083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:2749083C>T	ENST00000382611.6	-	3	987	c.739G>A	c.(739-741)Gac>Aac	p.D247N	IRX2_ENST00000302057.5_Missense_Mutation_p.D247N|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	247						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CACAGGGGGTCCCCGGCGCGG	0.706000													22	118					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47951284	47951284	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:47951284T>C	ENST00000426837.2	-	10	4765	c.4678A>G	c.(4678-4680)Atc>Gtc	p.I1560V	MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.I150V			P27816	MAP4_HUMAN	microtubule-associated protein 4	930					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTCATCGATCCCTGCTTCA	0.428000													3	106					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114264272	114264272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:114264272G>T	ENST00000357077.4	+	34	4275	c.4222G>T	c.(4222-4224)Gaa>Taa	p.E1408*	ANK2_ENST00000509550.1_Nonsense_Mutation_p.E584*|ANK2_ENST00000510275.2_Nonsense_Mutation_p.E60*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.E1408*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1375*|ANK2_ENST00000506722.1_Nonsense_Mutation_p.E1399*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1375					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)		TGCCTTCAAAGAAAATAGACT	0.338000													42	91					1.57019e-19	1.69466e-19	1	1	0
HGSNAT	138050	broad.mit.edu	37	8	43046738	43046738	+	Splice_Site	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:43046738C>A	ENST00000458501.2	+	12	1334	c.1334_splice	c.e12+1	p.T445_splice	HGSNAT_ENST00000521576.1_Splice_Site_p.T134_splice|HGSNAT_ENST00000379644.4_Splice_Site_p.T417_splice|HGSNAT_ENST00000297798.7_Splice_Site_p.T149_splice			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	445					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGTGCCCTACGTAAGCGAAC	0.597000													38	174					5.78141e-17	6.20188e-17	1	1	0
RIOK3	8780	broad.mit.edu	37	18	21053506	21053506	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:21053506T>A	ENST00000339486.3	+	8	1546	c.929T>A	c.(928-930)tTc>tAc	p.F310Y	RIOK3_ENST00000581585.1_Missense_Mutation_p.F294Y|RIOK3_ENST00000577501.1_Missense_Mutation_p.F310Y	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	310	Protein kinase.				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)					AAAGATGATTTCAGGTTTAAA	0.328000													22	56					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555657	35555657	+	Missense_Mutation	SNP	G	G	A	rs140042742	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:35555657G>A	ENST00000455600.1	+	3	3184	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	872						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCTGGCCCGGGGAGGTGGT	0.632000													33	58					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269361	28269361	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:28269361A>T	ENST00000405948.2	+	7	2150	c.1730A>T	c.(1729-1731)cAg>cTg	p.Q577L	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q577L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	577					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACAACCACACAGGGTTATCTG	0.388000													87	136					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722304	26722304	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:26722304C>T	ENST00000380573.3	-	2	1206	c.183G>A	c.(181-183)acG>acA	p.T61T	ADRA1A_ENST00000519229.1_Silent_p.T61T|ADRA1A_ENST00000380586.1_Silent_p.T61T|ADRA1A_ENST00000380581.2_Silent_p.T61T|ADRA1A_ENST00000358857.5_Silent_p.T61T|ADRA1A_ENST00000380572.3_Silent_p.T61T|ADRA1A_ENST00000380587.1_Silent_p.T61T|ADRA1A_ENST00000276393.4_Silent_p.T61T|ADRA1A_ENST00000380582.3_Silent_p.T61T|ADRA1A_ENST00000354550.4_Silent_p.T61T			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	61					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGTAGTAGTGCGTGACTGAGT	0.607000													9	550					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39264672	39264672	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr13:39264672G>T	ENST00000280481.7	+	1	3407	c.3191G>T	c.(3190-3192)aGc>aTc	p.S1064I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1064					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTGTTGATAGCCAGGCCCCA	0.413000													92	168					4.08182e-41	4.66118e-41	1	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024676	55024676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:55024676G>A	ENST00000324000.3	+	3	2869	c.835G>A	c.(835-837)Gga>Aga	p.G279R		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	279					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GGCTTGGCCGGGAAATATAAT	0.408000													57	142					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28914382	28914382	+	Missense_Mutation	SNP	C	C	T	rs141826629	by1000genomes	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:28914382C>T	ENST00000395503.4	+	20	2960	c.2776C>T	c.(2776-2778)Cca>Tca	p.P926S	ATP2A1_ENST00000357084.3_Missense_Mutation_p.P926S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.P801S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	926					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCTGCGGATGCCACCCTGGGT	0.617000													5	193					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910945	52910945	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52910945C>G	ENST00000252242.4	-	6	1554	c.1164G>C	c.(1162-1164)gaG>gaC	p.E388D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	388	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCGGTTCATCTCAGAGATCT	0.522000													180	100					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129674411	129674411	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:129674411C>T	ENST00000421865.2	+	32	4675	c.4626C>T	c.(4624-4626)gtC>gtT	p.V1542V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1542	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGACCCTGTCACAGGATTCT	0.597000													60	73					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043909	56043909	+	Silent	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:56043909G>C	ENST00000313033.2	+	1	881	c.795G>C	c.(793-795)ggG>ggC	p.G265G		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTTATCATGGGACAATCCTCT	0.418000													219	247					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843742	160843742	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:160843742C>A	ENST00000283243.7	-	12	2168	c.1962G>T	c.(1960-1962)gaG>gaT	p.E654D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E654D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	654					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCTCTTCATACTCTGCTTTTT	0.502000													57	112					2.12129e-23	2.34667e-23	1	1	0
STXBP5	134957	broad.mit.edu	37	6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:147685192C>T	ENST00000367481.3	+	23	2971	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.R955W(1)|p.R991W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACCAATATGCGGATAGCCAG	0.363000													6	370					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	41					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61042028	61042028	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:61042028G>C	ENST00000335613.5	-	12	1910	c.1524C>G	c.(1522-1524)taC>taG	p.Y508*		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552000													30	147					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35466208	35466208	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:35466208C>T	ENST00000229771.6	-	15	1604	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	TULP1_ENST00000322263.4_Missense_Mutation_p.V456M	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	509					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCCGCCACGCGGCCGAAC	0.667000													10	40					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17079760	17079760	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:17079760A>G	ENST00000395811.5	+	20	2819	c.2730A>G	c.(2728-2730)gaA>gaG	p.E910E	MPRIP_ENST00000444976.1_Silent_p.E872E|MPRIP_ENST00000395804.3_Silent_p.E910E|MPRIP_ENST00000341712.4_Silent_p.E910E|RP11-45M22.3_ENST00000584203.1_RNA	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	910						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGGTAAAGGAATCGGAAATAC	0.532000													77	190					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155240700	155240700	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:155240700C>T	ENST00000368361.4	-	2	384	c.69G>A	c.(67-69)cgG>cgA	p.R23R	CLK2_ENST00000361168.5_Silent_p.R23R|CLK2_ENST00000536801.1_Silent_p.R23R|CLK2_ENST00000355560.4_Silent_p.R23R			P49760	CLK2_HUMAN	CDC-like kinase 2	23						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R23R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTTTCGGCTCCGATAGTGTT	0.572000								Other conserved DNA damage response genes					59	145					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44564903	44564903	+	Splice_Site	SNP	G	G	A	rs150881172		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:44564903G>A	ENST00000591793.1	+	6	557	c.472_splice	c.e6-1	p.G158_splice	ZNF223_ENST00000588518.1_3'UTR|ZNF223_ENST00000585552.1_Splice_Site_p.G48_splice|ZNF223_ENST00000434772.3_Splice_Site_p.G48_splice			Q9UK11	ZN223_HUMAN	zinc finger protein 223	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGTTTACAGGGCATCAACCAT	0.403000													5	484					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13323202	13323202	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:13323202G>C	ENST00000360228.5	-	42	6184	c.6185C>G	c.(6184-6186)tCt>tGt	p.S2062C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S2063C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2063					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGGCACCTGAGAGTTAGGCTG	0.647000													5	36					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135153533	135153533	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:135153533C>G	ENST00000372169.2	-	21	6948	c.6766G>C	c.(6766-6768)Gtt>Ctt	p.V2256L	SETX_ENST00000224140.5_Missense_Mutation_p.V2256L|SETX_ENST00000393220.1_Missense_Mutation_p.V2256L			Q7Z333	SETX_HUMAN	senataxin	2256					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTACTGAACAGTGAGCTGT	0.428000													58	254					0	0	1	0	0
CSTF2T	23283	broad.mit.edu	37	10	53459124	53459124	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:53459124G>A	ENST00000331173.4	-	1	231	c.186C>T	c.(184-186)tgC>tgT	p.C62C	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	62	RRM.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTTGGTATTCGCAGAAGCCAT	0.537000													75	149					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121701709	121701709	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:121701709G>A	ENST00000324774.5	-	6	1487	c.659C>T	c.(658-660)cCt>cTt	p.P220L	CAMKK2_ENST00000392474.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P220L|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P220L|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P220L|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P220L|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P220L|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P220L	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	220	Protein kinase.|RP domain.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCAGCCTCCAGGAGCTGGCCG	0.612000													41	26					0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69062839	69062839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:69062839C>A	ENST00000308946.3	+	2	468	c.18C>A	c.(16-18)tgC>tgA	p.C6*	MYEOV_ENST00000441339.2_Nonsense_Mutation_p.C6*|MYEOV_ENST00000535407.1_Intron	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	6										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		tcagaatctgcgtcacataca	0.577000													16	35					6.31663e-08	6.57672e-08	1	1	0
PKD1	5310	broad.mit.edu	37	16	2168022	2168022	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2168022C>T	ENST00000262304.4	-	5	1179	c.971G>A	c.(970-972)cGc>cAc	p.R324H	PKD1_ENST00000423118.1_Missense_Mutation_p.R324H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	324	PKD 1.		R -> L (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCACATAGCGATGCGAGGC	0.711000													10	12					0	0	1	0	0
ATP5J	522	broad.mit.edu	37	21	27097539	27097539	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr21:27097539T>C	ENST00000400093.3	-	3	978	c.287A>G	c.(286-288)gAa>gGa	p.E96G	ATP5J_ENST00000457143.2_Missense_Mutation_p.E104G|ATP5J_ENST00000400099.1_Missense_Mutation_p.E96G|ATP5J_ENST00000284971.3_Missense_Mutation_p.E96G|ATP5J_ENST00000400087.3_Missense_Mutation_p.E96G|ATP5J_ENST00000400090.3_Missense_Mutation_p.E96G|ATP5J_ENST00000400094.1_Missense_Mutation_p.E96G	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	96					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						AGACGTACCTTCAAATTTGAA	0.378000													3	171					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													5	325					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16616784	16616784	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:16616784G>A	ENST00000306320.9	-	1	383	c.297C>T	c.(295-297)ttC>ttT	p.F99F	FAM134B_ENST00000509048.1_5'UTR|RP11-260E18.1_ENST00000499131.1_RNA	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	99					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TGGCAGCGACGAAGCCGAGCA	0.726000													7	31					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117857223	117857223	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:117857223G>T	ENST00000227752.3	+	1	161	c.41G>T	c.(40-42)aGc>aTc	p.S14I	IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000541785.1_5'UTR|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	14						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCGCTCCTCAGCCTCCGTCTT	0.706000													2	1					1	1	1	1	0
PGP	283871	broad.mit.edu	37	16	2264251	2264251	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2264251G>C	ENST00000333503.7	-	1	557	c.528C>G	c.(526-528)ttC>ttG	p.F176L		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	176					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						TCATGTAGCTGAAGTGCGGGT	0.697000													6	25					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100182223	100182223	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:100182223C>T	ENST00000325103.6	-	17	1879	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	HPS1_ENST00000361490.4_Missense_Mutation_p.R549H|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	549					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCAGTGGTGCGGTCCACATA	0.562000									Hermansky-Pudlak syndrome				66	181					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152956769	152956769	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:152956769C>T	ENST00000253122.5	+	3	881	c.405C>T	c.(403-405)taC>taT	p.Y135Y	SLC6A8_ENST00000430077.2_Silent_p.Y20Y	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	135					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCCTGGGCTACGCCTCCATGG	0.602000													3	25					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17412027	17412027	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:17412027G>A	ENST00000247706.3	-	2	638	c.399C>T	c.(397-399)ccC>ccT	p.P133P	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	133							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ctgcgctgccgGGGGCCAAGC	0.716000													9	14					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56394429	56394429	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:56394429C>T	ENST00000370754.5	-	66	17318	c.17319G>A	c.(17317-17319)gaG>gaA	p.E5773E	DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Silent_p.E3181E|DST_ENST00000421834.2_Silent_p.E3507E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Intron|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Silent_p.E5595E|DST_ENST00000446842.2_Silent_p.E5269E			Q03001	DYST_HUMAN	dystonin	5593					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)			TCTCTTGAATCTCAATGTACC	0.433000													74	215					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59115302	59115302	+	Silent	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:59115302C>A	ENST00000589222.1	+	18	1883	c.1815C>A	c.(1813-1815)ggC>ggA	p.G605G	BCAS3_ENST00000588874.1_Silent_p.G376G|BCAS3_ENST00000390652.5_Silent_p.G620G|BCAS3_ENST00000407086.3_Silent_p.G605G|BCAS3_ENST00000585744.1_Silent_p.G391G|BCAS3_ENST00000588462.1_Silent_p.G620G|BCAS3_ENST00000408905.3_Silent_p.G605G|RP11-264B14.1_ENST00000588604.1_RNA			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	620						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTTGCTATGGCACCTTAGTGG	0.478000													252	113					8.49039e-111	9.82221e-111	1	1	0
TINAG	27283	broad.mit.edu	37	6	54254654	54254654	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:54254654A>G	ENST00000259782.4	+	11	1458	c.1362A>G	c.(1360-1362)gtA>gtG	p.V454V		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	454					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTCGAGGAGTAAATGAGTCCG	0.403000													7	274					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21968242	21968242	+	Splice_Site	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			26	30					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897782	61897782	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:61897782C>T	ENST00000427159.2	-	19	2734	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	697					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCCCCCTCATCCTCATTAAAT	0.498000													56	143					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2273119	2273119	+	Missense_Mutation	SNP	G	G	T	rs146945400		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:2273119G>T	ENST00000290974.2	-	12	2790	c.2451C>A	c.(2449-2451)gaC>gaA	p.D817E	ZFYVE28_ENST00000508471.1_Missense_Mutation_p.D122E|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.D747E|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.D787E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	817					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CACAGGCCTCGTCTGGCACCC	0.662000													6	16					1.49906e-05	1.55166e-05	1	1	0
TXK	7294	broad.mit.edu	37	4	48096216	48096216	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:48096216G>T	ENST00000264316.4	-	8	672	c.587C>A	c.(586-588)aCg>aAg	p.T196K	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2.					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						GGCAGCCTCCGTACTTCTACA	0.373000													20	63					1.01871e-10	1.07329e-10	1	1	0
LRRN2	10446	broad.mit.edu	37	1	204587388	204587388	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:204587388C>A	ENST00000367175.1	-	1	3945	c.1733G>T	c.(1732-1734)gGa>gTa	p.G578V	LRRN2_ENST00000367176.3_Missense_Mutation_p.G578V|LRRN2_ENST00000367177.3_Missense_Mutation_p.G578V			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	578					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCTGTGGGTTCCCCGAGGCAG	0.647000													15	53					1.02788e-11	1.08943e-11	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25488772	25488772	+	RNA	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr15:25488772G>A	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						GGTCGATGATGAGAACCTTAT	0.512000													151	337					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645700	215645700	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:215645700G>T	ENST00000260947.4	-	4	1032	c.898C>A	c.(898-900)Cct>Act	p.P300T	BARD1_ENST00000449967.2_Missense_Mutation_p.P156T|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	300					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCTTCTCAGGAGTCACTACT	0.383000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				46	138					3.54909e-21	3.87771e-21	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50463980	50463980	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:50463980A>T	ENST00000404971.1	-	19	4952	c.3613T>A	c.(3613-3615)Ttg>Atg	p.L1205M	NRXN1_ENST00000405472.3_Missense_Mutation_p.L1157M|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.L1165M|NRXN1_ENST00000342183.5_Missense_Mutation_p.L130M|NRXN1_ENST00000401710.1_Missense_Mutation_p.L183M|NRXN1_ENST00000406859.3_Missense_Mutation_p.L1165M|NRXN1_ENST00000406316.2_Missense_Mutation_p.L1165M|NRXN1_ENST00000402717.3_Missense_Mutation_p.L1157M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1165	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCGCACCAATACGGCTTCT	0.438000													27	74					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17427072	17427072	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:17427072C>A	ENST00000302539.4	-	27	3496	c.3371G>T	c.(3370-3372)aGa>aTa	p.R1124I	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1123I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1123	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGATGAAAATCTGTTCAGGAT	0.512000													64	146					2.69673e-31	3.05976e-31	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100533240	100533240	+	Splice_Site	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:100533240T>A	ENST00000395996.1	+	31	4998		c.e31+2		VPS13B_ENST00000358544.2_Splice_Site|VPS13B_ENST00000357162.2_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						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)			TATTTACCAGTAAGTTTATTT	0.393000													70	100					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85769770	85769770	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:85769770G>A	ENST00000306434.3	+	7	974	c.851G>A	c.(850-852)gGa>gAa	p.G284E	MAT2A_ENST00000409017.1_Missense_Mutation_p.G221E	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	284					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCCTTTTCAGGAAAGGATTAT	0.493000													41	76					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136418927	136418927	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:136418927C>T	ENST00000264160.4	+	18	2381	c.2011C>T	c.(2011-2013)Cta>Tta	p.L671L	R3HDM1_ENST00000409478.1_Silent_p.L543L|R3HDM1_ENST00000329971.3_Silent_p.L542L|R3HDM1_ENST00000410054.1_Silent_p.L616L|R3HDM1_ENST00000409606.1_Silent_p.L672L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	671							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CAATTCACATCTAAACCAACC	0.458000													55	110					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539813	55539813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:55539813C>A	ENST00000220676.1	+	4	3519	c.3371C>A	c.(3370-3372)tCa>tAa	p.S1124*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1124					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATATGTAATTCATCCACTAAT	0.418000													39	92					9.8876e-21	1.07368e-20	1	1	0
TTLL9	164395	broad.mit.edu	37	20	30497542	30497542	+	Silent	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:30497542G>T	ENST00000375938.4	+	6	574	c.321G>T	c.(319-321)ctG>ctT	p.L107L	TTLL9_ENST00000535842.1_Silent_p.L107L|TTLL9_ENST00000375921.2_Silent_p.L57L|TTLL9_ENST00000375934.4_Silent_p.L89L|TTLL9_ENST00000375922.4_Silent_p.L57L|TTLL9_ENST00000310998.4_Silent_p.L57L			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	107	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCACCCAGCTGACCCGGAAGA	0.632000													16	53					1.5739e-10	1.6484e-10	1	1	0
CCAR1	55749	broad.mit.edu	37	10	70531028	70531028	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:70531028A>G	ENST00000265872.6	+	18	2483	c.2364A>G	c.(2362-2364)aaA>aaG	p.K788K	CCAR1_ENST00000543719.1_Silent_p.K773K|CCAR1_ENST00000535016.1_Silent_p.K773K	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	788	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GTATATACAAATCATTACTGT	0.308000													54	118					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48263803	48263803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:48263803C>T	ENST00000225964.5	-	49	3998	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1294	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCAGTCTCCATGTTGCAG	0.552000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						50	98					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33260945	33260945	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr15:33260945T>C	ENST00000334528.9	-	4	2287	c.2288A>G	c.(2287-2289)tAt>tGt	p.Y763C	FMN1_ENST00000561249.1_Missense_Mutation_p.Y888C|FMN1_ENST00000559047.1_Missense_Mutation_p.Y986C	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	986	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTAGTCCAATATAAAGGCTT	0.463000													86	169					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171406608	171406608	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:171406608T>C	ENST00000356327.5	-	14	1467	c.1397A>G	c.(1396-1398)aAg>aGg	p.K466R	PLD1_ENST00000351298.4_Missense_Mutation_p.K466R|PLD1_ENST00000340989.4_Missense_Mutation_p.K466R|PLD1_ENST00000342215.6_Missense_Mutation_p.K466R	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	466	Catalytic.|PLD phosphodiesterase 1.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GATGACAAGCTTCTCATGGTG	0.498000													20	109					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823124	48823124	+	Missense_Mutation	SNP	G	G	A	rs146274793	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:48823124G>A	ENST00000505658.1	+	8	926	c.737G>A	c.(736-738)cGt>cAt	p.R246H	LUC7L3_ENST00000544170.1_Missense_Mutation_p.R170H|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R246H|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R246H			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	246	Arg/Ser-rich.|Glu-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						CGTGATGAGCGTCTAAAAAAG	0.363000													14	26					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63997583	63997583	+	RNA	SNP	A	A	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:63997583A>C	ENST00000534988.1	-	0	99																											AAAAAAAAAAACCCGCCCAGC	0.532000													5	1					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41749528	41749528	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:41749528G>A	ENST00000226382.2	-	2	626	c.267C>T	c.(265-267)caC>caT	p.H89H		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	89					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TGAGGCCGCCGTGGTCCGTGA	0.577000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				53	147					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31385103	31385103	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:31385103C>T	ENST00000328111.2	+	14	1809	c.1488C>T	c.(1486-1488)tgC>tgT	p.C496C	DNMT3B_ENST00000348286.2_Silent_p.C476C|DNMT3B_ENST00000201963.3_Silent_p.C488C|DNMT3B_ENST00000344505.4_Silent_p.C476C|DNMT3B_ENST00000443239.3_Silent_p.C434C|DNMT3B_ENST00000353855.2_Silent_p.C476C|DNMT3B_ENST00000456297.2_Silent_p.C400C|DNMT3B_ENST00000375623.4_3'UTR	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	496	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGAGCTGCTGCCGGTGAGCAC	0.572000													3	63					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25374506	25374506	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr13:25374506T>C	ENST00000255324.5	+	13	1644	c.1592T>C	c.(1591-1593)gTt>gCt	p.V531A	RNF17_ENST00000381921.1_Missense_Mutation_p.V531A|RNF17_ENST00000255325.5_Missense_Mutation_p.V532A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	531					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTCCTAGAGTTGTTGATACC	0.328000													53	159					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29654896	29654896	+	Missense_Mutation	SNP	G	G	A	rs138347786		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:29654896G>A	ENST00000334018.6	+	15	1483	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	EMID1_ENST00000404820.3_Missense_Mutation_p.R434Q|EMID1_ENST00000404755.3_Missense_Mutation_p.R411Q	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	430						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						ACCAACTACCGGATCGTGGCC	0.716000													23	47					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515625	70515625	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:70515625C>G	ENST00000381269.2	-	7	3019	c.2266G>C	c.(2266-2268)Gcc>Ccc	p.A756P	SLC8A3_ENST00000533541.1_Missense_Mutation_p.A113P|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A754P|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A754P|SLC8A3_ENST00000216568.7_Missense_Mutation_p.A127P|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A753P|SLC8A3_ENST00000394330.2_Missense_Mutation_p.A113P|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A750P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	756					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCGAAGCAGGCCCAGCCGTGG	0.582000													8	27					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6632162	6632162	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:6632162C>G	ENST00000315579.5	+	16	2922	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S663C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	708					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AAAGGGGACTCTGCCAGGTAT	0.542000													34	86					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7415500	7415500	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7415500C>T	ENST00000322644.6	+	26	4728	c.4329C>T	c.(4327-4329)gcC>gcT	p.A1443A		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1443					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGGAAGCAGCCGCACACGGTG	0.617000													25	47					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395542	160395542	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:160395542C>T	ENST00000320767.2	+	1	595	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	136					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CTGAGGACATCACCAGAATGT	0.488000													34	99					0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824419	70824419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:70824419C>T	ENST00000258111.4	+	3	1078	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	207					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CATGAAGAAGCGCAAGTTCTC	0.552000													54	15					0	0	1	0	0
PPT1	5538	broad.mit.edu	37	1	40542559	40542559	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:40542559T>A	ENST00000433473.3	-	8	1217	c.753A>T	c.(751-753)caA>caT	p.Q251H	PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000530076.1_Missense_Mutation_p.Q32H|PPT1_ENST00000449045.2_Missense_Mutation_p.Q148H	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	251					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTCCTTGGCTTGGCCACTTC	0.463000													20	200					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	83					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62207599	62207599	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:62207599C>G	ENST00000394997.1	+	12	2054	c.1789C>G	c.(1789-1791)Caa>Gaa	p.Q597E	HIF1A_ENST00000539097.1_Missense_Mutation_p.Q620E|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000337138.4_Missense_Mutation_p.Q596E|HIF1A_ENST00000323441.6_Missense_Mutation_p.Q596E|HIF1A_ENST00000557538.1_Missense_Mutation_p.Q537E			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	596	ID.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CGCAAGTCCTCAAAGCACAGT	0.448000													55	106					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077308	81077308	+	Missense_Mutation	SNP	C	C	T	rs139034682		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:81077308C>T	ENST00000566488.1	+	3	1700	c.737C>T	c.(736-738)aCg>aTg	p.T246M	ATMIN_ENST00000299575.4_Missense_Mutation_p.T402M|ATMIN_ENST00000564241.1_Missense_Mutation_p.T246M|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	402	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTAGGGAACACGTGTCAAAAG	0.403000													76	140					0	0	1	0	0
DBI	1622	broad.mit.edu	37	2	120128364	120128364	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:120128364G>A	ENST00000542275.1	+	3	443	c.359G>A	c.(358-360)tGg>tAg	p.W120*	DBI_ENST00000535757.1_Nonsense_Mutation_p.W76*|DBI_ENST00000393103.2_Nonsense_Mutation_p.W60*|DBI_ENST00000409094.1_Nonsense_Mutation_p.W76*|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000355857.3_Nonsense_Mutation_p.W59*|DBI_ENST00000311521.4_Nonsense_Mutation_p.W76*|DBI_ENST00000535617.1_Nonsense_Mutation_p.W101*	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	59					transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						TGGGATGCCTGGAATGAGCTG	0.423000													15	48					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70614215	70614215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:70614215delT	ENST00000370952.3	-	14	1737	c.1658delA	c.(1657-1659)gcfs	p.D553fs		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	553										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTGTAAGAGGTCATTATTTTG	0.353													133	279	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152084694	152084696	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:152084694_152084696delCTC	ENST00000368804.1	-	2	996_998	c.997_999delGAG	c.(997-999)del	p.E333del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	333	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctctcctcctgctgc	0.709													11	24	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43452301	43452302	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:43452301_43452302insT	ENST00000282388.3	-	2	934_935	c.641_642insA	c.(640-642)tatfs	p.Y214fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	214					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGTTGTGGATGAAGTGGCAGCG	0.693													11	21	---	---	---	---					
TGFBR2	7048	broad.mit.edu	37	3	30691918	30691920	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:30691918_30691920delTGA	ENST00000295754.5	+	3	802_804	c.420_422delTGA	c.(418-423)tct>tc	p.SD140del	TGFBR2_ENST00000359013.4_In_Frame_Del_p.SD165del	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	140					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCTGTAGCTCTGATGAGTGCAAT	0.419													61	101	---	---	---	---					
C3orf52	79669	broad.mit.edu	37	3	111812254	111812260	+	Frame_Shift_Del	DEL	AAGATGC	AAGATGC	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:111812254_111812260delAAGATGC	ENST00000264848.5	+	2	245_251	c.186_192delAAGATGC	c.(184-192)ggfs	p.GRC62fs	C3orf52_ENST00000431717.2_Frame_Shift_Del_p.GRC62fs|C3orf52_ENST00000430855.1_Frame_Shift_Del_p.GRC62fs	NM_024616.2	NP_078892.2	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	62						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATGTGGTTGGAAGATGCAAACTGTGGA	0.435													38	174	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187549454	187549454	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:187549454delG	ENST00000441802.2	-	9	4873	c.4664delC	c.(4663-4665)agfs	p.T1555fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1555	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGGTCATTCGTGTCGCTGAC	0.502										HNSCC(5;0.00058)			15	24	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187557332	187557333	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:187557332_187557333insA	ENST00000441802.2	-	6	4238_4239	c.4029_4030insT	c.(4027-4032)ataatgfs	p.M1344fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1344	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGATCCATTCAATATGGAGTC	0.441										HNSCC(5;0.00058)			35	81	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs34838882	by1000genomes	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(157-162)gcccgc>gcGCCccgc	p.53_54AR>APR	KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	53	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													5	6	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150924382	150924382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:150924382delA	ENST00000261800.5	-	9	6318	c.6306delT	c.(6304-6306)aafs	p.N2102fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2102	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAACAGCCCCATTTGTCCCCA	0.428													86	90	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41792294	41792294	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:41792294delC	ENST00000396930.3	-	18	3987	c.3444delG	c.(3442-3444)aafs	p.K1150fs	KAT6A_ENST00000406337.1_Frame_Shift_Del_p.K1150fs|KAT6A_ENST00000265713.2_Frame_Shift_Del_p.K1150fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1150	Poly-Lys.				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										ATCCCTTTTTCTTTTTCAAAG	0.443													9	797	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124384892	124384893	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:124384892_124384893insT	ENST00000287394.5	-	3	461_462	c.354_355insA	c.(352-357)aaaagafs	p.R119fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTGCTCTTCTTTTTTTTTAT	0.267													21	259	---	---	---	---					
MFSD3	113655	broad.mit.edu	37	8	145736030	145736031	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:145736030_145736031insT	ENST00000301327.4	+	3	1140_1141	c.880_881insT	c.(880-882)agcfs	p.S294fs		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	294	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTCGGGGGCCTAGCCTGTCAG	0.624													8	462	---	---	---	---					
C9orf117	286207	broad.mit.edu	37	9	130475482	130475482	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:130475482delT	ENST00000373295.2	+	8	1528	c.1488delT	c.(1486-1488)ccfs	p.P496fs	C9orf117_ENST00000373293.5_Intron|C9orf117_ENST00000464092.1_Intron	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	496										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACAGCAGCCCTGAGGTGAGGG	0.647													34	47	---	---	---	---					
TRIM51	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctfs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	141						intracellular	zinc ion binding										AGGAGCTCCTAAAAAAAATGC	0.403													17	84	---	---	---	---					
EXPH5	23086	broad.mit.edu	37	11	108384257	108384258	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:108384257_108384258insT	ENST00000265843.4	-	6	2086_2087	c.1976_1977insA	c.(1975-1977)aaafs	p.K659fs	EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.K583fs|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.K652fs|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.K471fs	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	659					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)		AGGCAGGCTTATTTGGAAAAAT	0.441													7	180	---	---	---	---					
LINC00381	100874151	broad.mit.edu	37	13	74993520	74993535	+	RNA	DEL	CTTCCTTCCTTCCTTT	CTTCCTTCCTTCCTTT	-	rs71870153	by1000genomes	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr13:74993520_74993535delCTTCCTTCCTTCCTTT	ENST00000423629.1	+	0	56					NR_047005.1																						ccctcccttccttccttccttcctttcttccttcct	0.542													4	2	---	---	---	---					
ZNF549	256051	broad.mit.edu	37	19	58048899	58048900	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:58048899_58048900delCT	ENST00000376233.3	+	4	708_709	c.527_528delCT	c.(526-528)cfs	p.P176fs	ZNF549_ENST00000240719.3_Frame_Shift_Del_p.P163fs|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCAAAATTCCTCTGTCAGACA	0.475													27	59	---	---	---	---					
EEF1A2	1917	broad.mit.edu	37	20	62126260	62126264	+	Frame_Shift_Del	DEL	TTCCT	TTCCT	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:62126260_62126264delTTCCT	ENST00000217182.3	-	4	680_684	c.515_519delAGGAA	c.(514-519)afs	p.KE172fs	EEF1A2_ENST00000298049.7_Frame_Shift_Del_p.KE172fs	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	172						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			AGGCGCTGACTTCCTTGACGATCTC	0.605													14	147	---	---	---	---					
FAM120C	54954	broad.mit.edu	37	X	54209173	54209190	+	In_Frame_Del	DEL	CAGCGCTGACAAGTAGCC	CAGCGCTGACAAGTAGCC	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:54209173_54209190delCAGCGCTGACAAGTAGCC	ENST00000375180.2	-	1	498_515	c.442_459delGGCTACTTGTCAGCGCTG	c.(442-459)del	p.GYLSAL148del	FAM120C_ENST00000477084.1_In_Frame_Del_p.GYLSAL148del|FAM120C_ENST00000328235.4_In_Frame_Del_p.GYLSAL148del|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	148										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGCCTGGCACAGCGCTGACAAGTAGCCCAGCATGGCG	0.711													7	18	---	---	---	---